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2024-04-19 01:00:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014043 2643 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens charged multivesicular body protein 2B (CHMP2B),
transcript variant 1, mRNA.
ACCESSION NM_014043
VERSION NM_014043.3 GI:170650589
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 2643)
AUTHORS Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT,
Isaacs A, Brown JM and Gade A.
CONSRTM Frontotemporal dementia Research in Jutland Association (FReJA)
consortium
TITLE Cognitive impairment in the preclinical stage of dementia in FTD-3
CHMP2B mutation carriers: a longitudinal prospective study
JOURNAL J. Neurol. Neurosurg. Psychiatr. 84 (2), 170-176 (2013)
PUBMED 23142962
REMARK GeneRIF: Subjects with CHMP2B mutation show cognitive changes
dominated by executive dysfunctions, years before they fulfil
diagnostic criteria of FTD.
REFERENCE 2 (bases 1 to 2643)
AUTHORS Tanikawa,S., Mori,F., Tanji,K., Kakita,A., Takahashi,H. and
Wakabayashi,K.
TITLE Endosomal sorting related protein CHMP2B is localized in Lewy
bodies and glial cytoplasmic inclusions in alpha-synucleinopathy
JOURNAL Neurosci. Lett. 527 (1), 16-21 (2012)
PUBMED 22947304
REMARK GeneRIF: These findings suggest that endosomal and autophagic
pathway is associated with degradation or formation of
alpha-synuclein aggregates in alpha-synucleinopathy.
REFERENCE 3 (bases 1 to 2643)
AUTHORS Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM and Nielsen JE.
CONSRTM FReJA Consortium
TITLE Reversal of pathology in CHMP2B-mediated frontotemporal dementia
patient cells using RNA interference
JOURNAL J Gene Med 14 (8), 521-529 (2012)
PUBMED 22786763
REMARK GeneRIF: Direct link between disease-causing mutations and the
cellular phenotype in cells originating from CHMP2B mutation
patients with frontotemporal dementia.
REFERENCE 4 (bases 1 to 2643)
AUTHORS Han,J.H., Ryu,H.H., Jun,M.H., Jang,D.J. and Lee,J.A.
TITLE The functional analysis of the CHMP2B missense mutation associated
with neurodegenerative diseases in the endo-lysosomal pathway
JOURNAL Biochem. Biophys. Res. Commun. 421 (3), 544-549 (2012)
PUBMED 22521643
REMARK GeneRIF: This study provided a better understanding of the cellular
pathogenesis of neurodegenerative diseases associated with various
missense mutations of CHMP2B as well as endocytic defects.
REFERENCE 5 (bases 1 to 2643)
AUTHORS Bodon,G., Chassefeyre,R., Pernet-Gallay,K., Martinelli,N.,
Effantin,G., Hulsik,D.L., Belly,A., Goldberg,Y.,
Chatellard-Causse,C., Blot,B., Schoehn,G., Weissenhorn,W. and
Sadoul,R.
TITLE Charged multivesicular body protein 2B (CHMP2B) of the endosomal
sorting complex required for transport-III (ESCRT-III) polymerizes
into helical structures deforming the plasma membrane
JOURNAL J. Biol. Chem. 286 (46), 40276-40286 (2011)
PUBMED 21926173
REMARK GeneRIF: CHMP2B polymerization scaffolds membranes in vivo
represents a first step toward demonstrating its structural role
during outward membrane deformation
REFERENCE 6 (bases 1 to 2643)
AUTHORS Tsang,H.T., Connell,J.W., Brown,S.E., Thompson,A., Reid,E. and
Sanderson,C.M.
TITLE A systematic analysis of human CHMP protein interactions:
additional MIT domain-containing proteins bind to multiple
components of the human ESCRT III complex
JOURNAL Genomics 88 (3), 333-346 (2006)
PUBMED 16730941
REFERENCE 7 (bases 1 to 2643)
AUTHORS Howard,T.L., Stauffer,D.R., Degnin,C.R. and Hollenberg,S.M.
TITLE CHMP1 functions as a member of a newly defined family of vesicle
trafficking proteins
JOURNAL J. Cell. Sci. 114 (PT 13), 2395-2404 (2001)
PUBMED 11559748
REFERENCE 8 (bases 1 to 2643)
AUTHORS Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
TITLE Secretory protein trafficking and organelle dynamics in living
cells
JOURNAL Annu. Rev. Cell Dev. Biol. 16, 557-589 (2000)
PUBMED 11031247
REMARK Review article
REFERENCE 9 (bases 1 to 2643)
AUTHORS Ashworth,A., Lloyd,S., Brown,J., Gydesen,S., Sorensen,S.A.,
Brun,A., Englund,E., Humphreys,C., Housman,D., Badura,M.,
Stanton,V. Jr., Taylor,K., Cameron,J., Munroe,D., Johansson,J.,
Rossor,M., Fisher,E.M. and Collinge,J.
TITLE Molecular genetic characterisation of frontotemporal dementia on
chromosome 3
JOURNAL Dement Geriatr Cogn Disord 10 (SUPPL 1), 93-101 (1999)
PUBMED 10436350
REFERENCE 10 (bases 1 to 2643)
AUTHORS Brown,J., Ashworth,A., Gydesen,S., Sorensen,A., Rossor,M., Hardy,J.
and Collinge,J.
TITLE Familial non-specific dementia maps to chromosome 3
JOURNAL Hum. Mol. Genet. 4 (9), 1625-1628 (1995)
PUBMED 8541850
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BM828410.1, BC001553.1,
DA426159.1 and BM982148.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 21, 2008 this sequence version replaced gi:40254865.
Summary: This gene encodes a component of the heteromeric ESCRT-III
complex (Endosomal Sorting Complex Required for Transport III) that
functions in the recycling or degradation of cell surface
receptors. ESCRT-III functions in the concentration and
invagination of ubiquitinated endosomal cargos into intralumenal
vesicles. The protein encoded by this gene is found as a monomer in
the cytosol or as an oligomer in ESCRT-III complexes on endosomal
membranes. It is expressed in neurons of all major regions of the
brain. Mutations in this gene result in one form of familial
frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) represents the longer
transcript and it encodes the longer protein (isoform 1).
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 :: AK002165.1, BC001553.1 [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
1-184 BM828410.1 1-184
185-571 BC001553.1 1-387
572-602 DA426159.1 543-573
603-2490 BC001553.1 419-2306
2491-2643 BM982148.1 1-153 c
FEATURES Location/Qualifiers
source 1..2643
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p11.2"
gene 1..2643
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="charged multivesicular body protein 2B"
/db_xref="GeneID:25978"
/db_xref="HGNC:24537"
/db_xref="HPRD:13174"
/db_xref="MIM:609512"
exon 1..294
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
misc_feature 75..77
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="upstream in-frame stop codon"
variation 110
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:77328592"
variation 159
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:36098294"
variation 166
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:11540917"
variation 224
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:368463124"
variation 226
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:11540914"
variation 227
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:199854996"
variation 230
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376821391"
variation 248
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200140890"
variation 251
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:367697846"
CDS 261..902
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="isoform 1 is encoded by transcript variant 1; VPS2
homolog B; vacuolar protein-sorting-associated protein
2-2; chromatin modifying protein 2B"
/codon_start=1
/product="charged multivesicular body protein 2b isoform
1"
/protein_id="NP_054762.2"
/db_xref="GI:40254866"
/db_xref="CCDS:CCDS2918.1"
/db_xref="GeneID:25978"
/db_xref="HGNC:24537"
/db_xref="HPRD:13174"
/db_xref="MIM:609512"
/translation="
MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD
"
misc_feature 306..794
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="Snf7; Region: Snf7; pfam03357"
/db_xref="CDD:146145"
misc_feature 855..857
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9UQN3.1); phosphorylation site"
misc_feature 855..857
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 855..857
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 861..893
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UQN3.1);
Region: MIT-interacting motif"
variation complement(287)
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:2279720"
exon 295..386
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 296
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:141196445"
variation 316
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200322526"
variation 324
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:138886714"
variation 345
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:63750818"
variation 348
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139894940"
variation 355
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:374428152"
variation 371
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376846232"
variation 372
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:142645831"
variation 375
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:151007324"
exon 387..581
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 387
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540915"
variation 418
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:370382342"
variation 423
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:188471297"
variation 436
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143800051"
variation 452
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148750997"
variation 466
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200792883"
variation 473
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:139126268"
variation 478
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:192188850"
variation 508
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:374277596"
variation 512
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:144624883"
variation 571
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:281864934"
variation 572
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540913"
variation 577
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:368704252"
exon 582..684
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 624
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189313287"
variation 632
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044499"
variation 655
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372014089"
variation 672
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:376941490"
variation 683
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:202143621"
exon 685..791
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 688
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:63750944"
variation 702
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:63750653"
variation 724
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:375575660"
variation 753
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:63750355"
variation 782
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:35414442"
exon 792..2628
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 799
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:454175"
variation 805
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369257752"
variation 809
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143178463"
variation 816
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:63751048"
variation 820
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:78268395"
variation 827
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:187158507"
variation 841
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149380040"
variation 852
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:452942"
variation 873
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:373536428"
variation 878
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:63751126"
variation 920
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376791079"
variation 957
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:407321"
variation 976
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:202169483"
variation 995
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace=""
/replace="a"
/db_xref="dbSNP:368297778"
variation 1054
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:402375"
variation 1113
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:448316"
variation 1133
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:17189270"
variation 1168
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:393439"
variation 1170
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:408793"
variation 1253
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044512"
variation 1282
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:371181321"
variation 1345
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:114730892"
variation 1368
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:189471374"
variation 1391
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:390857"
variation 1445
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1060230"
variation 1515
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:181525689"
variation 1516
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:384094"
variation 1559
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139070624"
variation 1646
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:185167991"
variation 1661
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375678215"
variation 1673
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:199907485"
STS 1691..1934
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/standard_name="SHGC-77130"
/db_xref="UniSTS:48137"
variation 1696
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:373704153"
variation 1738
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189927047"
variation 1766
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:181777395"
variation 1770
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:10781"
variation 1777
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540916"
variation 1801
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:186472338"
variation 1832
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:373565536"
variation 1948
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062829"
variation 2092
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:115892684"
variation 2157
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:144167614"
variation 2278
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:191203869"
variation 2310
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183429826"
variation 2311
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:188771358"
variation 2320
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:201231896"
STS 2394..2514
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/standard_name="RH66762"
/db_xref="UniSTS:4350"
variation 2399
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:144158499"
variation 2403
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:191118931"
variation 2405
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:1060238"
variation 2465
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183335605"
variation 2486
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:186567031"
variation 2490
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11426"
variation 2491
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060241"
variation 2512
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:191312397"
variation 2555
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183760081"
ORIGIN
acacaacgcgcaggcgccgcctagaagtgacttctccaaaaagtgtgttagttcccggtcacctgagctccgggtgacgcggctgcggtagctgcggatacaagccttccgcgggtcctgcctggcgaccccgacctcctcctgctgtctctccgctccgccaccccgaacccgccaaggtcctgtccttttcctcctgtcctttgccagcgttgggccggaccgggccgagccgggccgcccgggcgcagtctttaaccatggcgtccctcttcaagaagaaaaccgtggatgatgtaataaaggaacagaatcgagagttacgaggtacacagagggctataatcagagatcgagcagctttagagaaacaagaaaaacagctggaattagaaattaagaaaatggccaagattggtaataaggaagcttgcaaagttttagccaaacaacttgtgcatctacggaaacagaagacgagaacttttgctgtaagttcaaaagttacttctatgtctacacaaacaaaagtgatgaattcccaaatgaagatggctggagcaatgtctactacagcaaaaacaatgcaggcagttaacaagaagatggatccacaaaagacattacaaacaatgcagaatttccagaaggaaaacatgaaaatggaaatgactgaagaaatgatcaatgatacacttgatgacatctttgacggttctgatgacgaagaagaaagccaggatattgtgaatcaagttcttgatgaaattggaattgaaatttctggaaagatggccaaagctccatcagctgctcgaagcttaccatctgcctctacttcaaaggctacaatctcagatgaagagattgaacggcaactcaaggctttaggagtagattagtcaaaagaagtcatactattttgcttacttataattatgtagtataaaccaagcacagtgcagatttcttttacaaaacacatgtattttgcaaaaaaaaaaaaaatgaagaccatgagtgaacagttgtttcctaacccatggctatttagaatcttttgccaaagaatgacaatgatgcaaaaatgggaacagtttggattttaattagaactgtttaggagtgatgatgtgtaaaaagttgacttctcttttgcatggcacagagaaattatattccttacttcatgtcagtttatgttctaaatctttttcactgaatataaaaatcttgttaaatgccattaggcaccaacttaaagagggttgtaaaaatattaaaagtatatcgttaattctgtatctgttgcttgtcttttgtaagtgattatgtgttatgaccataggtggttacagctgccaaattatttttaaatggtcaaaaagaagagtgctatttaaacatctgtcttaaacaaaaactgtcataacttttcttttttctttttccattaggagaacattctagttggtaaatttcaaaatgtgcttgacacctgccttaaatagcacagacctattgtgcacatctttaaattatttcagctggcagaaaagaattacatttaaaactgaaatcaaggcctcaatacaaagattatcctggctcttttctatctctgtgggcctaattgaaatatgtactcttattttagacacgcctctgttaaaacagaccaggttttcctggtctcagacctatgatgacttgtccctttgatgtcactactgtgaattgaatataattagtaaaaatagacgatgaataaataacactttatagtaagaaaacaatatattttggccatctaaaaatgagaattataattatatgaattataatttaaactgtttaattttgtttaatgtgtatattgaatcttccaaattgaagccattattctcaattaagtactacaactatgacaatgcttgacctacatttctaaaataaaaattcacattttttgataaataaactacagttttaccagaaattactatctaaatgtgtattagcagtattttttaaggtgaaattgccttggtatctaatgaatgtgtagacagggagataaaatgaaggattgccagactagttagaatagaatttaggattaggttagttttgaaaaatgatgttgtaatatatgggttctaacacatcctaccataaaaactggaggagatatgtgtaacctggttaatttgggatggtggacattttgggctaatactgacaaaatacatcttaggactagtatacatgtgacacggattgctaggaggaatgaaaaactaaactgtatagtttatattccgtaaaccattttataatgttcaaagattaggttttgttattgatagtattaaatacacagtttctcttaacagtgatgggtgaaaacattttaccggattatggaatgtttaccagaacatgttttgattcttgaatgtacataataatgccatctaacttatttacgttcttgtttacatgtgggagcttttgttttcaaaaattattttgttaaaaaatctcaataaagatttattattgttgttcttttcttaccttttttgctctttttggttcctgctaaaattaaaaattttatgcataaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:25978 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IPI
GeneID:25978 -> Biological process: GO:0008219 [cell death] evidence: IEA
GeneID:25978 -> Biological process: GO:0015031 [protein transport] evidence: IEA
GeneID:25978 -> Biological process: GO:0016032 [viral process] evidence: TAS
GeneID:25978 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:25978 -> Biological process: GO:0016197 [endosomal transport] evidence: TAS
GeneID:25978 -> Biological process: GO:0019067 [viral assembly, maturation, egress, and release] evidence: TAS
GeneID:25978 -> Cellular component: GO:0005622 [intracellular] evidence: IDA
GeneID:25978 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:25978 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:25978 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:25978 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:25978 -> Cellular component: GO:0031902 [late endosome membrane] evidence: IEA
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