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2024-04-19 06:28:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_021999 1896 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens integral membrane protein 2B (ITM2B), mRNA.
ACCESSION NM_021999
VERSION NM_021999.4 GI:221316670
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 1896)
AUTHORS Fluhrer,R., Martin,L., Klier,B., Haug-Kroper,M., Grammer,G.,
Nuscher,B. and Haass,C.
TITLE The alpha-helical content of the transmembrane domain of the
British dementia protein-2 (Bri2) determines its processing by
signal peptide peptidase-like 2b (SPPL2b)
JOURNAL J. Biol. Chem. 287 (7), 5156-5163 (2012)
PUBMED 22194595
REMARK GeneRIF: The alpha-helical content of the transmembrane domain of
the British dementia protein-2 (Bri2) determines its processing by
signal peptide peptidase-like 2b (SPPL2b).
REFERENCE 2 (bases 1 to 1896)
AUTHORS Kilger,E., Buehler,A., Woelfing,H., Kumar,S., Kaeser,S.A.,
Nagarathinam,A., Walter,J., Jucker,M. and Coomaraswamy,J.
TITLE BRI2 protein regulates beta-amyloid degradation by increasing
levels of secreted insulin-degrading enzyme (IDE)
JOURNAL J. Biol. Chem. 286 (43), 37446-37457 (2011)
PUBMED 21873424
REMARK GeneRIF: BRI2 protein regulates beta-amyloid degradation by
increasing levels of secreted insulin-degrading enzyme (IDE).
REFERENCE 3 (bases 1 to 1896)
AUTHORS Tsachaki,M., Serlidaki,D., Fetani,A., Zarkou,V., Rozani,I.,
Ghiso,J. and Efthimiopoulos,S.
TITLE Glycosylation of BRI2 on asparagine 170 is involved in its
trafficking to the cell surface but not in its processing by furin
or ADAM10
JOURNAL Glycobiology 21 (10), 1382-1388 (2011)
PUBMED 21752865
REMARK GeneRIF: BRI2 is N-glycosylated at Asn170 and show that this
post-translational modification is essential for its expression at
the cell surface but not for its proteolytic processing.
REFERENCE 4 (bases 1 to 1896)
AUTHORS Tamayev,R., Matsuda,S., Giliberto,L., Arancio,O. and D'Adamio,L.
TITLE APP heterozygosity averts memory deficit in knockin mice expressing
the Danish dementia BRI2 mutant
JOURNAL EMBO J. 30 (12), 2501-2509 (2011)
PUBMED 21587206
REMARK GeneRIF: Knock-in mice with familial Danish dementia, a mouse model
congruous to human disease since they carry one mutant and one
wild-type Bri2 allele, show that the Danish mutation causes loss of
Bri2 protein, synaptic plasticity and memory impairment.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1896)
AUTHORS Matsuda,S., Tamayev,R. and D'Adamio,L.
TITLE Increased AbetaPP processing in familial Danish dementia patients
JOURNAL J. Alzheimers Dis. 27 (2), 385-391 (2011)
PUBMED 21841249
REMARK GeneRIF: Neurological effects of the Danish form of BRI2 dementia
caused by toxic amyloid Abeta protein precursor metabolites suggest
that familial Danish and Alzheimer's dementias share common
pathogenic mechanisms.
REFERENCE 6 (bases 1 to 1896)
AUTHORS Vidal,R., Revesz,T., Rostagno,A., Kim,E., Holton,J.L., Bek,T.,
Bojsen-Moller,M., Braendgaard,H., Plant,G., Ghiso,J. and
Frangione,B.
TITLE A decamer duplication in the 3' region of the BRI gene originates
an amyloid peptide that is associated with dementia in a Danish
kindred
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (9), 4920-4925 (2000)
PUBMED 10781099
REFERENCE 7 (bases 1 to 1896)
AUTHORS Kim,S.H., Wang,R., Gordon,D.J., Bass,J., Steiner,D.F., Lynn,D.G.,
Thinakaran,G., Meredith,S.C. and Sisodia,S.S.
TITLE Furin mediates enhanced production of fibrillogenic ABri peptides
in familial British dementia
JOURNAL Nat. Neurosci. 2 (11), 984-988 (1999)
PUBMED 10526337
REFERENCE 8 (bases 1 to 1896)
AUTHORS Vidal,R., Frangione,B., Rostagno,A., Mead,S., Revesz,T., Plant,G.
and Ghiso,J.
TITLE A stop-codon mutation in the BRI gene associated with familial
British dementia
JOURNAL Nature 399 (6738), 776-781 (1999)
PUBMED 10391242
REFERENCE 9 (bases 1 to 1896)
AUTHORS Pittois,K., Deleersnijder,W. and Merregaert,J.
TITLE cDNA sequence analysis, chromosomal assignment and expression
pattern of the gene coding for integral membrane protein 2B
JOURNAL Gene 217 (1-2), 141-149 (1998)
PUBMED 9795190
REFERENCE 10 (bases 1 to 1896)
AUTHORS Ernst,B., Dalby,M.A. and Dalby,A.
TITLE Luria testing in demented patients
JOURNAL Acta Neurol. Scand. 46 (SUPPL 43:97-SUPPL 43), 98 (1970)
PUBMED 5466275
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA087198.1, AK130048.1,
AF136973.1 and AF152462.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 24, 2009 this sequence version replaced gi:142388886.
Summary: Amyloid precursor proteins are processed by beta-secretase
and gamma-secretase to produce beta-amyloid peptides which form the
characteristic plaques of Alzheimer disease. This gene encodes a
transmembrane protein which is processed at the C-terminus by furin
or furin-like proteases to produce a small secreted peptide which
inhibits the deposition of beta-amyloid. Mutations which result in
extension of the C-terminal end of the encoded protein, thereby
increasing the size of the secreted peptide, are associated with
two neurogenerative diseases, familial British dementia and
familial Danish dementia. [provided by RefSeq, Oct 2009].
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 :: AF152462.1, AF136973.1 [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
1-454 DA087198.1 1-454
455-1889 AK130048.1 391-1825
1890-1891 AF136973.1 1882-1883
1892-1896 AF152462.1 1839-1843
FEATURES Location/Qualifiers
source 1..1896
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="13"
/map="13q14.3"
gene 1..1896
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/note="integral membrane protein 2B"
/db_xref="GeneID:9445"
/db_xref="HGNC:6174"
/db_xref="HPRD:04878"
/db_xref="MIM:603904"
exon 1..340
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
variation 66
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:375837803"
misc_feature 71..73
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/note="upstream in-frame stop codon"
variation 88..89
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556902"
variation 161
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11556903"
variation 212
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11556904"
variation 219
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556906"
CDS 224..1024
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/note="BRICHOS domain containing 2B; transmembrane protein
BRI; ABri/ADan amyloid peptide; immature BRI2"
/codon_start=1
/product="integral membrane protein 2B"
/protein_id="NP_068839.1"
/db_xref="GI:11527402"
/db_xref="CCDS:CCDS9409.1"
/db_xref="GeneID:9445"
/db_xref="HGNC:6174"
/db_xref="HPRD:04878"
/db_xref="MIM:603904"
/translation="
MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVILNEPSADAPAALYQTIEENIKIFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIHEHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGIQKREASNCFAIRHFENKFAVETLICS
"
misc_feature 386..448
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y287.1);
transmembrane region"
misc_feature 527..625
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y287.1);
Region: Necessary for interaction with APP and inhibitor
effects on APP processing"
misc_feature 635..916
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/note="BRICHOS domain; Region: BRICHOS; pfam04089"
/db_xref="CDD:146624"
misc_feature 950..955
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by furin; propagated from
UniProtKB/Swiss-Prot (Q9Y287.1); cleavage site"
variation 266
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556905"
variation 304
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11556899"
variation 315
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:150336652"
exon 341..469
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
variation 346
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556907"
variation 392
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:149490262"
variation 424
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17849339"
variation 427
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374098900"
exon 470..676
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
variation 470
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201982776"
variation 476
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143931252"
variation 478
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:74074155"
variation 507
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113956182"
variation 547
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332284"
variation 559
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377585277"
variation 594
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370484810"
STS 622..753
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="D13S864E"
/db_xref="UniSTS:151526"
variation 626
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200085682"
exon 677..787
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
variation 715
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11556900"
variation 723
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141232990"
variation 743
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146286944"
variation 755
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:180832133"
exon 788..938
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
variation 806
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11556901"
variation 808
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="g"
/db_xref="dbSNP:373587210"
variation 811
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201852577"
variation 846
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201399334"
variation 885
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199884227"
variation 921
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368050477"
variation 933
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371745063"
exon 939..1896
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/inference="alignment:Splign:1.39.8"
STS 961..1097
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="RH44653"
/db_xref="UniSTS:64709"
variation 974
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139394220"
variation 979
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201018568"
variation 997
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144217555"
variation 1000
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146553069"
variation 1001
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373968526"
variation 1022
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="t"
/db_xref="dbSNP:104894417"
STS 1025..1152
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="SHGC-34192"
/db_xref="UniSTS:450"
variation 1057
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368947914"
variation 1059
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376535006"
variation 1063
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:15059"
variation 1133
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:111489798"
variation 1167
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="t"
/db_xref="dbSNP:9332304"
variation 1188
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11556898"
variation 1192
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1053852"
variation 1249
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332305"
variation 1259
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149011622"
variation 1302
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:111774271"
variation 1309
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332306"
variation 1442
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143797646"
variation 1499
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="t"
/db_xref="dbSNP:148194760"
variation 1533
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:3194840"
STS 1552..1676
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="RH44780"
/db_xref="UniSTS:57353"
variation 1617
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="g"
/db_xref="dbSNP:187075131"
STS 1655..1755
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="A002O26"
/db_xref="UniSTS:64356"
STS 1656..1895
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/standard_name="D13S1155"
/db_xref="UniSTS:4891"
variation 1679
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141149671"
polyA_signal 1698..1703
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
variation 1726
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
/replace="a"
/replace="c"
/db_xref="dbSNP:9534999"
polyA_site 1735
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
polyA_signal 1819..1824
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
polyA_site 1847
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
polyA_site 1891
/gene="ITM2B"
/gene_synonym="ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD;
imBRI2"
ORIGIN
ctcccaggggatgtgcgagcagtctccgccctcgcgcgggagctgggaggctgcgagatccctaccgcagtagccgcctctgccgccgcggagcttcccgaacctcttcagccgcccggagccgctcccggagcccggccgtagaggctgcaatcgcagccgggagcccgcagcccgcgccccgagcccgccgccgcccttcgagggcgccccaggccgcgccatggtgaaggtgacgttcaactccgctctggcccagaaggaggccaagaaggacgagcccaagagcggcgaggaggcgctcatcatcccccccgacgccgtcgcggtggactgcaaggacccagatgatgtggtaccagttggccaaagaagagcctggtgttggtgcatgtgctttggactagcatttatgcttgcaggtgttattctaggaggagcatacttgtacaaatattttgcacttcaaccagatgacgtgtactactgtggaataaagtacatcaaagatgatgtcatcttaaatgagccctctgcagatgccccagctgctctctaccagacaattgaagaaaatattaaaatctttgaagaagaagaagttgaatttatcagtgtgcctgtcccagagtttgcagatagtgatcctgccaacattgttcatgactttaacaagaaacttacagcctatttagatcttaacctggataagtgctatgtgatccctctgaacacttccattgttatgccacccagaaacctactggagttacttattaacatcaaggctggaacctatttgcctcagtcctatctgattcatgagcacatggttattactgatcgcattgaaaacattgatcacctgggtttctttatttatcgactgtgtcatgacaaggaaacttacaaactgcaacgcagagaaactattaaaggtattcagaaacgtgaagccagcaattgtttcgcaattcggcattttgaaaacaaatttgccgtggaaactttaatttgttcttgaacagtcaagaaaaacattattgaggaaaattaatatcacagcataaccccaccctttacattttgtgcagtgattattttttaaagtcttctttcatgtaagtagcaaacagggctttactatcttttcatctcattaattcaattaaaaccattaccttaaaatttttttctttcgaagtgtggtgtcttttatatttgaattagtaactgtatgaagtcatagataatagtacatgtcaccttaggtagtaggaagaattacaatttctttaaatcatttatctggatttttatgttttattagcattttcaagaagacggattatctagagaataatcatatatatgcatacgtaaaaatggaccacagtgacttatttgtagttgttagttgccctgctacctagtttgttagtgcatttgagcacacattttaattttcctctaattaaaatgtgcagtattttcagtgtcaaatatatttaactatttagagaatgatttccacctttatgttttaatatcctaggcatctgctgtaataatattttagaaaatgtttggaatttaagaaataacttgtgttactaatttgtataacccatatctgtgcaatggaatataaatatcacaaagttgtttaactagactgcgtgttgtttttcccgtataataaaaccaaagaatagtttggttcttcaaatcttaagagaatccacataaaagaagaaactattttttaaaaattcacttctatatatacaatgagtaaaatcacagattttttctttaaataaaaataagtcattttaataactaaaccagattctttgtggatactattaaagtaacatttaagcctcaaccttg
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9445 -> Molecular function: GO:0001540 [beta-amyloid binding] evidence: IPI
GeneID:9445 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9445 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:9445 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:9445 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:9445 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
GeneID:9445 -> Biological process: GO:0042985 [negative regulation of amyloid precursor protein biosynthetic process] evidence: IDA
GeneID:9445 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:9445 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:9445 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:9445 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
GeneID:9445 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:9445 -> Cellular component: GO:0010008 [endosome membrane] evidence: IEA
GeneID:9445 -> Cellular component: GO:0030660 [Golgi-associated vesicle membrane] evidence: IDA
GeneID:9445 -> Cellular component: GO:0031301 [integral to organelle membrane] evidence: IDA
GeneID:9445 -> Cellular component: GO:0043231 [intracellular membrane-bounded organelle] evidence: IDA
by
@meso_cacase at
DBCLS
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