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2024-04-20 20:19:55, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001244644 2551 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens charged multivesicular body protein 2B (CHMP2B),
transcript variant 2, mRNA.
ACCESSION NM_001244644
VERSION NM_001244644.1 GI:347582618
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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 2551)
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, AK296072.1,
BI821848.1, AK002165.1 and BM982148.1.
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 (2) lacks an alternate exon in the
5' coding region, compared to variant 1. The resulting predicted
protein (isoform 2) is shorter when it is compared to 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 :: AK296072.1, BU857794.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025084 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-8 BM828410.1 1-8
9-294 AK296072.1 1-286
295-540 BI821848.1 364-609
541-2486 AK002165.1 606-2551
2487-2551 BM982148.1 1-65 c
FEATURES Location/Qualifiers
source 1..2551
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p11.2"
gene 1..2551
/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="MIM:609512"
exon 1..294
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
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"
misc_feature 256..258
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="upstream in-frame stop codon"
variation complement(287)
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:2279720"
CDS 292..810
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="isoform 2 is encoded by transcript variant 2; VPS2
homolog B; vacuolar protein-sorting-associated protein
2-2; chromatin modifying protein 2B"
/codon_start=1
/product="charged multivesicular body protein 2b isoform
2"
/protein_id="NP_001231573.1"
/db_xref="GI:347582619"
/db_xref="CCDS:CCDS58840.1"
/db_xref="GeneID:25978"
/db_xref="HGNC:24537"
/db_xref="MIM:609512"
/translation="
MELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD
"
misc_feature 295..702
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/note="Snf7; Region: Snf7; pfam03357"
/db_xref="CDD:146145"
exon 295..489
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 295
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540915"
variation 326
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:370382342"
variation 331
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:188471297"
variation 344
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143800051"
variation 360
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:148750997"
variation 374
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:200792883"
variation 381
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:139126268"
variation 386
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:192188850"
variation 416
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:374277596"
variation 420
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:144624883"
variation 479
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:281864934"
variation 480
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11540913"
variation 485
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:368704252"
exon 490..592
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 532
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189313287"
variation 540
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044499"
variation 563
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372014089"
variation 580
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:376941490"
variation 591
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:202143621"
exon 593..699
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 596
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:63750944"
variation 610
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:63750653"
variation 632
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:375575660"
variation 661
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:63750355"
variation 690
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:35414442"
exon 700..2536
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/inference="alignment:Splign:1.39.8"
variation 707
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:454175"
variation 713
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369257752"
variation 717
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143178463"
variation 724
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:63751048"
variation 728
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:78268395"
variation 735
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:187158507"
variation 749
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:149380040"
variation 760
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:452942"
variation 781
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:373536428"
variation 786
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:63751126"
variation 828
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:376791079"
variation 865
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:407321"
variation 884
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:202169483"
variation 903
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace=""
/replace="a"
/db_xref="dbSNP:368297778"
variation 962
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:402375"
variation 1021
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:448316"
variation 1041
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:17189270"
variation 1076
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:393439"
variation 1078
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:408793"
variation 1161
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044512"
variation 1190
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:371181321"
variation 1253
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:114730892"
variation 1276
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:189471374"
variation 1299
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:390857"
variation 1353
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1060230"
variation 1423
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:181525689"
variation 1424
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:384094"
variation 1467
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:139070624"
variation 1554
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:185167991"
variation 1569
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:375678215"
variation 1581
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="c"
/db_xref="dbSNP:199907485"
STS 1599..1842
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/standard_name="SHGC-77130"
/db_xref="UniSTS:48137"
variation 1604
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:373704153"
variation 1646
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189927047"
variation 1674
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:181777395"
variation 1678
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:10781"
variation 1685
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:11540916"
variation 1709
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="t"
/db_xref="dbSNP:186472338"
variation 1740
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:373565536"
variation 1856
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062829"
variation 2000
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:115892684"
variation 2065
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:144167614"
variation 2186
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:191203869"
variation 2218
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183429826"
variation 2219
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:188771358"
variation 2228
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:201231896"
STS 2302..2422
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/standard_name="RH66762"
/db_xref="UniSTS:4350"
variation 2307
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:144158499"
variation 2311
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="g"
/replace="t"
/db_xref="dbSNP:191118931"
variation 2313
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="g"
/db_xref="dbSNP:1060238"
variation 2373
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183335605"
variation 2394
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:186567031"
variation 2398
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:11426"
variation 2399
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060241"
variation 2420
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="c"
/replace="t"
/db_xref="dbSNP:191312397"
variation 2463
/gene="CHMP2B"
/gene_synonym="ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183760081"
ORIGIN
acacaacgcgcaggcgccgcctagaagtgacttctccaaaaagtgtgttagttcccggtcacctgagctccgggtgacgcggctgcggtagctgcggatacaagccttccgcgggtcctgcctggcgaccccgacctcctcctgctgtctctccgctccgccaccccgaacccgccaaggtcctgtccttttcctcctgtcctttgccagcgttgggccggaccgggccgagccgggccgcccgggcgcagtctttaaccatggcgtccctcttcaagaagaaaaccgtggatggaattagaaattaagaaaatggccaagattggtaataaggaagcttgcaaagttttagccaaacaacttgtgcatctacggaaacagaagacgagaacttttgctgtaagttcaaaagttacttctatgtctacacaaacaaaagtgatgaattcccaaatgaagatggctggagcaatgtctactacagcaaaaacaatgcaggcagttaacaagaagatggatccacaaaagacattacaaacaatgcagaatttccagaaggaaaacatgaaaatggaaatgactgaagaaatgatcaatgatacacttgatgacatctttgacggttctgatgacgaagaagaaagccaggatattgtgaatcaagttcttgatgaaattggaattgaaatttctggaaagatggccaaagctccatcagctgctcgaagcttaccatctgcctctacttcaaaggctacaatctcagatgaagagattgaacggcaactcaaggctttaggagtagattagtcaaaagaagtcatactattttgcttacttataattatgtagtataaaccaagcacagtgcagatttcttttacaaaacacatgtattttgcaaaaaaaaaaaaaatgaagaccatgagtgaacagttgtttcctaacccatggctatttagaatcttttgccaaagaatgacaatgatgcaaaaatgggaacagtttggattttaattagaactgtttaggagtgatgatgtgtaaaaagttgacttctcttttgcatggcacagagaaattatattccttacttcatgtcagtttatgttctaaatctttttcactgaatataaaaatcttgttaaatgccattaggcaccaacttaaagagggttgtaaaaatattaaaagtatatcgttaattctgtatctgttgcttgtcttttgtaagtgattatgtgttatgaccataggtggttacagctgccaaattatttttaaatggtcaaaaagaagagtgctatttaaacatctgtcttaaacaaaaactgtcataacttttcttttttctttttccattaggagaacattctagttggtaaatttcaaaatgtgcttgacacctgccttaaatagcacagacctattgtgcacatctttaaattatttcagctggcagaaaagaattacatttaaaactgaaatcaaggcctcaatacaaagattatcctggctcttttctatctctgtgggcctaattgaaatatgtactcttattttagacacgcctctgttaaaacagaccaggttttcctggtctcagacctatgatgacttgtccctttgatgtcactactgtgaattgaatataattagtaaaaatagacgatgaataaataacactttatagtaagaaaacaatatattttggccatctaaaaatgagaattataattatatgaattataatttaaactgtttaattttgtttaatgtgtatattgaatcttccaaattgaagccattattctcaattaagtactacaactatgacaatgcttgacctacatttctaaaataaaaattcacattttttgataaataaactacagttttaccagaaattactatctaaatgtgtattagcagtattttttaaggtgaaattgccttggtatctaatgaatgtgtagacagggagataaaatgaaggattgccagactagttagaatagaatttaggattaggttagttttgaaaaatgatgttgtaatatatgggttctaacacatcctaccataaaaactggaggagatatgtgtaacctggttaatttgggatggtggacattttgggctaatactgacaaaatacatcttaggactagtatacatgtgacacggattgctaggaggaatgaaaaactaaactgtatagtttatattccgtaaaccattttataatgttcaaagattaggttttgttattgatagtattaaatacacagtttctcttaacagtgatgggtgaaaacattttaccggattatggaatgtttaccagaacatgttttgattcttgaatgtacataataatgccatctaacttatttacgttcttgtttacatgtgggagcttttgttttcaaaaattattttgttaaaaaatctcaataaagatttattattgttgttcttttcttaccttttttgctctttttggttcctgctaaaattaaaaattttatgcataaaaaaaaaaaaaaaa
//
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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