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2024-04-20 18:15:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012305 4671 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens adaptor-related protein complex 2, alpha 2 subunit
(AP2A2), transcript variant 2, mRNA.
ACCESSION NM_012305
VERSION NM_012305.3 GI:338827683
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4671)
AUTHORS Martins-de-Souza,D., Guest,P.C., Mann,D.M., Roeber,S., Rahmoune,H.,
Bauder,C., Kretzschmar,H., Volk,B., Baborie,A. and Bahn,S.
TITLE Proteomic analysis identifies dysfunction in cellular transport,
energy, and protein metabolism in different brain regions of
atypical frontotemporal lobar degeneration
JOURNAL J. Proteome Res. 11 (4), 2533-2543 (2012)
PUBMED 22360420
REMARK GeneRIF: A protein encoded by this locus was found to be
differentially expressed in postmortem brains from patients with
atypical frontotemporal lobar degeneration.
REFERENCE 2 (bases 1 to 4671)
AUTHORS Masuyama,N., Kuronita,T., Tanaka,R., Muto,T., Hirota,Y.,
Takigawa,A., Fujita,H., Aso,Y., Amano,J. and Tanaka,Y.
TITLE HM1.24 is internalized from lipid rafts by clathrin-mediated
endocytosis through interaction with alpha-adaptin
JOURNAL J. Biol. Chem. 284 (23), 15927-15941 (2009)
PUBMED 19359243
REMARK GeneRIF: Clathrin-dependent endocytosis of human CD317 from the
cell surface lipid rafts is mediated by direct interaction with
alpha-adaptin.
REFERENCE 3 (bases 1 to 4671)
AUTHORS Chaudhuri,R., Mattera,R., Lindwasser,O.W., Robinson,M.S. and
Bonifacino,J.S.
TITLE A basic patch on alpha-adaptin is required for binding of human
immunodeficiency virus type 1 Nef and cooperative assembly of a
CD4-Nef-AP-2 complex
JOURNAL J. Virol. 83 (6), 2518-2530 (2009)
PUBMED 19129443
REMARK GeneRIF: The mutation of lysine-297 and arginine-340 on the
alpha-adaptin specifically inhibits the ability of Nef to bind AP-2
and downregulate CD4.
REFERENCE 4 (bases 1 to 4671)
AUTHORS Stove,V., Van de Walle,I., Naessens,E., Coene,E., Stove,C., Plum,J.
and Verhasselt,B.
TITLE Human immunodeficiency virus Nef induces rapid internalization of
the T-cell coreceptor CD8alphabeta
JOURNAL J. Virol. 79 (17), 11422-11433 (2005)
PUBMED 16103193
REMARK Erratum:[J Virol. 2005 Oct;79(20):13195]
REFERENCE 5 (bases 1 to 4671)
AUTHORS Lu,W. and Ziff,E.B.
TITLE PICK1 interacts with ABP/GRIP to regulate AMPA receptor trafficking
JOURNAL Neuron 47 (3), 407-421 (2005)
PUBMED 16055064
REFERENCE 6 (bases 1 to 4671)
AUTHORS Scorilas,A., Levesque,M.A., Ashworth,L.K. and Diamandis,E.P.
TITLE Cloning, physical mapping and structural characterization of the
human alpha(A)-adaptin gene
JOURNAL Gene 289 (1-2), 191-199 (2002)
PUBMED 12036598
REFERENCE 7 (bases 1 to 4671)
AUTHORS Okabayashi,Y., Sugimoto,Y., Totty,N.F., Hsuan,J., Kido,Y.,
Sakaguchi,K., Gout,I., Waterfield,M.D. and Kasuga,M.
TITLE Interaction of Shc with adaptor protein adaptins
JOURNAL J. Biol. Chem. 271 (9), 5265-5269 (1996)
PUBMED 8617812
REFERENCE 8 (bases 1 to 4671)
AUTHORS David,C., McPherson,P.S., Mundigl,O. and de Camilli,P.
TITLE A role of amphiphysin in synaptic vesicle endocytosis suggested by
its binding to dynamin in nerve terminals
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (1), 331-335 (1996)
PUBMED 8552632
REFERENCE 9 (bases 1 to 4671)
AUTHORS Garcia,J.V. and Miller,A.D.
TITLE Serine phosphorylation-independent downregulation of cell-surface
CD4 by nef
JOURNAL Nature 350 (6318), 508-511 (1991)
PUBMED 2014052
REFERENCE 10 (bases 1 to 4671)
AUTHORS Robinson,M.S.
TITLE Cloning of cDNAs encoding two related 100-kD coated vesicle
proteins (alpha-adaptins)
JOURNAL J. Cell Biol. 108 (3), 833-842 (1989)
PUBMED 2564002
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB461570.1, BC006155.1, AP006477.2 and BU735076.1.
On Jun 30, 2011 this sequence version replaced gi:71725392.
Transcript Variant: This variant (2) uses an alternate in-frame
splice site in the central coding region, compared to variant 1,
resulting in an isoform (2) that is 1 aa shorter than isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AB020706.2, BC006155.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-72 DB461570.1 1-72
73-3056 BC006155.1 1-2984
3057-4507 AP006477.2 73392-74842
4508-4671 BU735076.1 1-164 c
FEATURES Location/Qualifiers
source 1..4671
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15.5"
gene 1..4671
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="adaptor-related protein complex 2, alpha 2 subunit"
/db_xref="GeneID:161"
/db_xref="HGNC:562"
/db_xref="HPRD:06256"
/db_xref="MIM:607242"
exon 1..280
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 37
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:146169964"
misc_feature 97..99
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="upstream in-frame stop codon"
variation 141
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="c"
/db_xref="dbSNP:371493949"
variation 162
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:11538723"
CDS 214..3033
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="isoform 2 is encoded by transcript variant 2;
alpha-adaptin C; Huntingtin interacting protein J;
clathrin-associated/assembly/adaptor protein, large, alpha
2; adaptin, alpha B; AP-2 complex subunit alpha-2;
alpha2-adaptin; huntingtin yeast partner J; 100 kDa coated
vesicle protein C; huntingtin-interacting protein 9;
clathrin assembly protein complex 2 alpha-C large chain;
plasma membrane adaptor HA2/AP2 adaptin alpha C subunit"
/codon_start=1
/product="AP-2 complex subunit alpha-2 isoform 2"
/protein_id="NP_036437.1"
/db_xref="GI:27477041"
/db_xref="CCDS:CCDS44512.1"
/db_xref="GeneID:161"
/db_xref="HGNC:562"
/db_xref="HPRD:06256"
/db_xref="MIM:607242"
/translation="
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTEKQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSPDLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIRIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALLLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLEDTKRDRSVDVNGGPEPAPASTSAVSTPSPSADLLGLGAAPPAPAGPPPSSGGSGLLVDVFSDSASVVAPLAPGSEDNFARFVCKNNGVLFENQLLQIGLKSEFRQNLGRMFIFYGNKTSTQFLNFTPTLICSDDLQPNLNLQTKPVDPTVEGGAQVQQVVNIECVSDFTEAPVLNIQFRYGGTFQNVSVQLPITLNKFFQPTEMASQDFFQRWKQLSNPQQEVQNIFKAKHPMDTEVTKAKIIGFGSALLEEVDPNPANFVGAGIIHTKTTQIGCLLRLEPNLQAQMYRLTLRTSKEAVSQRLCELLSAQF
"
misc_feature 226..453
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O94973.2);
Region: Lipid-binding"
misc_feature 304..1983
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="Adaptin N terminal region; Region: Adaptin_N;
pfam01602"
/db_xref="CDD:201882"
misc_feature 2362..2673
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="Adaptin C-terminal domain; Region: Alpha_adaptinC2;
smart00809"
/db_xref="CDD:197886"
misc_feature 2689..3015
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/note="Alpha adaptin AP2, C-terminal domain; Region:
Alpha_adaptin_C; pfam02296"
/db_xref="CDD:190271"
exon 281..349
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 301
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:200802126"
exon 350..492
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 402
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373083307"
variation 480
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:201774753"
exon 493..686
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 549
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="c"
/db_xref="dbSNP:117612040"
variation 555
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:371262427"
variation 571
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375531485"
variation 580
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:368541164"
variation 618
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372522058"
variation 621
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:200256869"
variation 684
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375422112"
exon 687..816
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 702
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="c"
/db_xref="dbSNP:377743784"
variation 717
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370958520"
variation 726
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373655031"
variation 733
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:376826459"
variation 763
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:371169279"
variation 795
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:374082996"
exon 817..918
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 828
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373656140"
variation 835
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368648611"
variation 888
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372178940"
variation 894
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="g"
/replace="t"
/db_xref="dbSNP:376084533"
exon 919..1027
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
exon 1028..1175
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1050
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:376038669"
variation 1060
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:370313860"
variation 1101
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:199994300"
variation 1103
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:367868093"
variation 1108
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="g"
/replace="t"
/db_xref="dbSNP:370391788"
variation 1124
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:374688346"
variation 1125
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368727985"
variation 1134
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:368631422"
variation 1140
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:10794358"
variation 1143
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375464272"
variation 1148
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:199955220"
variation 1162
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368012774"
variation 1170
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="t"
/db_xref="dbSNP:372182170"
exon 1176..1344
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1191
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:182744152"
variation 1196
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:377141195"
variation 1226
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370252249"
variation 1267
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="t"
/db_xref="dbSNP:374206027"
variation 1335
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:376964234"
exon 1345..1482
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1373
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376073560"
variation 1392
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:368388767"
variation 1412
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:144441591"
variation 1425
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:374078818"
variation 1431
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:62640021"
variation 1443
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:201537556"
variation 1450
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="g"
/replace="t"
/db_xref="dbSNP:11538724"
exon 1483..1665
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1494
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369879684"
variation 1515
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372353121"
variation 1518
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:375413054"
variation 1529
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:369618672"
variation 1578
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:200593003"
variation 1581
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:373085530"
variation 1632
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:376568433"
variation 1644
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:377212110"
exon 1666..1763
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1680
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375080990"
variation 1681
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368078144"
variation 1682
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="c"
/db_xref="dbSNP:370614113"
variation 1683
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:117402750"
variation 1689
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373961196"
variation 1701
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:367860145"
variation 1710
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:371254309"
variation 1754
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375527476"
exon 1764..1995
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 1767
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:200848815"
variation 1785
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:371130686"
variation 1812
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373549495"
variation 1813
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:373171866"
variation 1817
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:11538726"
variation 1824
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:199926214"
variation 1827
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:201859072"
variation 1893
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:374883321"
variation 1906
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:201206848"
variation 1911
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:367980973"
variation 1917
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:11538725"
variation 1923
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:200360731"
variation 1974
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:35001393"
variation 1980
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:202168065"
variation 1986
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:114803288"
exon 1996..2169
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2001
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:139213036"
variation 2007
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376414501"
variation 2022
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368977439"
variation 2028
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:143756303"
variation 2058
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:201381505"
variation 2064
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376911828"
variation 2074
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:184078663"
variation 2081
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369889043"
variation 2092
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:373049886"
variation 2108
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:375976257"
variation 2124
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:370327293"
variation 2159
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373979756"
variation 2163
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375811339"
variation 2164
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370131600"
variation 2166
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375622594"
exon 2170..2336
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2184
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376361676"
variation 2186
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:200859967"
variation 2205
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372194551"
variation 2218
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:111435435"
variation 2298
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:376836623"
exon 2337..2419
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2354
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376769456"
exon 2420..2509
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2424
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:369811595"
variation 2457
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:373157959"
variation 2496
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:201536162"
exon 2510..2633
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2532
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369597745"
variation 2541
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370442062"
variation 2556
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373604683"
variation 2558
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:377507590"
variation 2590
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370984986"
variation 2595
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:368398428"
variation 2603
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372318173"
variation 2604
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:375381017"
variation 2609
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:367952350"
exon 2634..2750
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2635
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="g"
/replace="t"
/db_xref="dbSNP:199901275"
variation 2674
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:373020241"
variation 2719
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:376198040"
variation 2731
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369140473"
variation 2741
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="t"
/db_xref="dbSNP:201323496"
exon 2751..2820
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2771
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:371017900"
variation 2809
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="t"
/db_xref="dbSNP:375554368"
exon 2821..2955
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2847
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369752636"
variation 2877
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:61736683"
variation 2922
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:202109923"
variation 2940
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:143171131"
exon 2956..4653
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/inference="alignment:Splign:1.39.8"
variation 2975
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:371126256"
variation 2991
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:200458953"
variation 3023
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373882367"
variation 3057
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:72842410"
variation 3058
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:73393715"
STS 3085..3304
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/standard_name="STS-W67158"
/db_xref="UniSTS:80989"
variation 3086
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:112809975"
variation 3096
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:181165842"
variation 3102
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:1128413"
variation 3144
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:148713386"
variation 3158
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128419"
variation 3283..3284
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:3087706"
variation 3284
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:17156180"
variation 3325
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:74455562"
variation 3335
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373591109"
variation 3341
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:142288191"
variation 3347
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368658381"
variation 3354
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:185752909"
variation 3375
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:372357124"
variation 3415..3416
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace=""
/replace="t"
/db_xref="dbSNP:369435583"
variation 3465
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="g"
/replace="t"
/db_xref="dbSNP:189020753"
variation 3481
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:181693438"
variation 3548
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="t"
/db_xref="dbSNP:201215538"
variation 3567
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:186434936"
variation 3624
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375310576"
variation 3625
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:372676880"
variation 3629
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:201848628"
variation 3668
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369101998"
variation 3690
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:371660995"
variation 3692
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:376411331"
variation 3724
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368789183"
variation 3773
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:373498693"
variation 3801
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:192473731"
variation 3838
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:368894936"
variation 3860
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:369643124"
variation 3898
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:7950955"
variation 3915
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:375969960"
variation 3933
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370322057"
variation 4005
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:61869001"
variation 4036
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:151266986"
variation 4153
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="t"
/db_xref="dbSNP:183927783"
variation 4237
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:14346"
STS 4274..4452
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/standard_name="RH48949"
/db_xref="UniSTS:2792"
variation 4280
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:185898063"
variation 4358
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:370128556"
variation 4510
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="a"
/replace="g"
/db_xref="dbSNP:139629752"
variation 4546..4547
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace=""
/replace="g"
/db_xref="dbSNP:34079982"
variation 4576..4577
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace=""
/replace="c"
/db_xref="dbSNP:34166441"
variation 4580..4581
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace=""
/replace="c"
/db_xref="dbSNP:72285364"
variation 4600
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace=""
/replace="c"
/db_xref="dbSNP:35999106"
variation 4619
/gene="AP2A2"
/gene_synonym="ADTAB; CLAPA2; HIP-9; HIP9; HYPJ"
/replace="c"
/replace="g"
/db_xref="dbSNP:190868769"
ORIGIN
gctcgcgtgcgtgcgcgtgcgtgctggtgcgggcgccgtacgtgcgcgcgcgcggcggcccagaaagcggcgctgggaccctgaggcggccgtggttaggcggctccccggcggctcctccgcggcggtgacggcgaccgcactccccgcttcccgctccccgcgctcctccgcccgggtccgccagccgaggccgctcccgagcgtcggaagatgccggccgtgtccaagggggacgggatgcggggcctggcggtcttcatctcggatatccgcaactgtaaaagtaaagaagcagaaataaaaaggataaacaaggaactggcaaatatcagatcaaaatttaaaggtgacaaggctcttgatggctatagtaaaaaaaagtacgtctgcaagttgctcttcatctttctccttggtcatgacattgactttggacacatggaggctgtgaacctgctgagttcaaacagatacacggaaaagcagatcggctaccttttcatctctgtgttggtgaactcaaacagtgagctgatccgcctgatcaacaacgccatcaagaatgacctggccagccgcaaccccaccttcatgggcctggccctgcactgcatcgccagcgtgggcagccgggagatggccgaggccttcgccggggagatccctaaggtcctcgtagccggagacactatggacagcgtgaagcagagcgcggccctgtgcttgctgcgcctgtacaggacgtcccccgatcttgtccccatgggcgactggacatcccgagtggtgcacctgctcaatgaccagcacttgggtgtggtaactgcagccacaagtctgatcaccactttagcacagaagaacccagaagagtttaaaacctccgtgtctctggctgtctctaggctaagcagaatcgtgacgtctgcatccacagatctccaggattacacttactattttgtcccggctccctggctgtctgtcaaactgctgagactgctgcagtgctacccacccccagaccctgcagtgcgaggccgcctgactgagtgcctggagaccatcctgaacaaagcccaagaaccgcccaagtcgaagaaggtccagcactccaacgcgaagaatgccgtgctcttcgaggccatcagcttaatcattcaccatgacagtgagccgaacctgctcgtccgtgcctgcaaccagttgggccagtttctgcagcaccgcgagaccaacctgcgctacctggccctggagagcatgtgcacgctggccagctctgagttctcccatgaggctgtcaagacgcacatcgagacggtcatcaacgccctgaagactgagcgggacgtgagcgtgcggcagcgggccgtggacctcctctacgccatgtgcgaccgcagcaacgccccacagatcgtggccgagatgctgagctatctggagacagctgactactccatccgagaagagattgtgctgaaggtcgccatcctggctgagaagtacgcggtggactacacctggtatgtggataccatcttgaacttgatccgaattgctggtgattacgtgagtgaagaggtgtggtaccgagtcattcagatcgtcatcaaccgggacgacgtgcagggctacgcggccaagactgtgttcgaggctcttcaggctcccgcgtgccacgagaacctggtcaaagtgggcggctacatcctgggggagtttggaaacttgatagctggagacccgagatccagcccgctgatccagttccacctgctgcactccaagttccacctgtgcagcgtccccacccgcgcgctgctcctgtccacctacatcaagttcgtgaacctcttcccggaggtgaagcccaccatccaggacgtgctgcgcagcgacagccagctcaggaacgcagacgtggagctgcagcagcgtgctgtggagtacctgcggctcagcaccgtggccagcaccgacattctggcgaccgtgctggaggagatgcccccattcccggagcgggagtcctccatcttggcaaagctcaagaagaagaagggccccagcacggtgacagacctggaggacaccaagcgggacaggagtgtggacgtgaacgggggtcctgagcctgccccagccagtaccagcgccgtgtctacgccttctccgtcggcagacctgctgggtctcggggctgccccccctgcccccgcgggccccccaccctcctccggcggcagcgggctgctcgtggacgtgttctcagactcggcctctgtggtcgcgcctctcgctcctggctccgaagacaactttgccaggtttgtttgtaaaaacaatggtgtgttgtttgaaaaccagctgcttcaaattggacttaagtctgaatttcggcagaatttaggtcggatgtttatcttttatggtaataagacctccacgcagttcctaaactttaccccaacactaatctgttcagacgaccttcagcctaacctgaacctgcagaccaagcccgtggacccgaccgtggaggggggcgcgcaggtgcagcaggtggtcaacatagagtgcgtgtccgacttcacggaggcgccagtcctcaacattcagttcaggtatgggggcaccttccagaacgtgtctgtgcagctgcccatcactctcaacaaattcttccagccgacagaaatggcttctcaggatttctttcaacgttggaagcagttgagcaatccacagcaggaagtgcagaacatcttcaaagcaaagcacccaatggacacagaagtcaccaaagccaagatcattggatttggttctgcacttcttgaagaagttgatcctaatcctgcgaatttcgtgggagctggaatcatccacacgaaaaccacccagattggatgcctgctgcgcttggagccgaacctgcaagcccagatgtaccggctcacgctgcgcacaagtaaggaagccgtttctcagagattatgtgaattgctctcagcgcagttttagtcctgaggatggaagaccaggctcgtgtgtcttgtgttgtcttcgtctgtgccgtttgtcttcgtggccatcctgcagatgagcaccgtgtccagtgccacagcacaaggcgcctccccgccccgccgccccacacctctcccctttgggctggacgggaacacacgtgtgtggctcaggaggaaaagctcagcctggactgtggcagccacggcagaaggtggatcttgggatcaatttttataaaaatcgagacagttctgtggttaaatctacaaattaaagggaaattagaagttggcgtgaacgtggcgtttgtgggagtgtcactgagatggcccgtgctgccgcccaccccgcctcggagcctctgggagcagcagtgccactgtgcatggcgtgggctgagccttggtgtgtggccgtcctggtggctgcacacctggcgtcgtcctgggcccttgggaggagcacagctgaccctggttttgctgcagtcccagctggactgttttcccaggcaggattttaatctagaatttagaaacatttgtatttgtaatgacttctggcaaaagcacgtgtcctggccggatgtaactgttctcctttcccagctcctgtttgtgaagggcgtctgttatgctcctgcagtcgccgaggccttggatgtgcagccaggggaggagcgtcctgccggccccgcagggcccccaggactccagggtaaagtgtgggccggtggcgcaagactcagaggtgtgctcgtctctttcctgtcagagtgggcgtccccaggccacggtgcaggcctgagtccttccaccggccccgtccagtcgtccctggaggggctgtggaggagggacgcctctgtgtggtcaggaagtgaaggggccattggccgcatgccatgtgccacctgcggcttgtgtctcacctgtcatctggactcagcacccaggctgcacgtctgacacctgagaggcgagagagtggggccggcctaggagccaaggctggggccttgcgctctgtccccaggatggtggccttgtttgtcctaaacacacccagcacaggttctggcttcctgacatgctgtggaggcagggagggtgggtggccacatgtgcttgagggttttcaccctggccctcagttgcctgctgtgcgggtccctggggcagctgcaggggctcatggacccatcagggtctccacagctcccctgcagtgtgtgcaccccacaatgtctgcggctcttcttccggcgtgtcgggctttgatcacagcatagccacgtcagtggcgtgcgcctctcgcacaggccattctgggtctggtggtgccaggtgccgtgacacgccgtgctgggcttgtgctgcagctgggtggtgtggccctcattctcatgttccagctgctgggcagtgctctgcctgtgtgctgcgcctgcaggctgcgtgtgctgccgtggatctcctgcatcccttgacccctcccgccatcagaggaaaggctgctccccgaggcaccgcttccctgtgcggcgctgcagaggggccctcagtgtggcactcctcgtcaaagaaaaataaaggctagaactgcaccccgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:161 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:161 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:161 -> Molecular function: GO:0008289 [lipid binding] evidence: IEA
GeneID:161 -> Molecular function: GO:0008565 [protein transporter activity] evidence: IEA
GeneID:161 -> Biological process: GO:0006886 [intracellular protein transport] evidence: NAS
GeneID:161 -> Biological process: GO:0006897 [endocytosis] evidence: IEA
GeneID:161 -> Biological process: GO:0007173 [epidermal growth factor receptor signaling pathway] evidence: TAS
GeneID:161 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:161 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:161 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:161 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:161 -> Biological process: GO:0042059 [negative regulation of epidermal growth factor receptor signaling pathway] evidence: TAS
GeneID:161 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
GeneID:161 -> Biological process: GO:0050690 [regulation of defense response to virus by virus] evidence: TAS
GeneID:161 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:161 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:161 -> Cellular component: GO:0030122 [AP-2 adaptor complex] evidence: NAS
GeneID:161 -> Cellular component: GO:0030666 [endocytic vesicle membrane] evidence: TAS
by
@meso_cacase at
DBCLS
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