Format

Send to:

Choose Destination

VPS26C VPS26 endosomal protein sorting factor C [ Homo sapiens (human) ]

Gene ID: 10311, updated on 12-Sep-2020

Summary

Official Symbol
VPS26Cprovided by HGNC
Official Full Name
VPS26 endosomal protein sorting factor Cprovided by HGNC
Primary source
HGNC:HGNC:3044
See related
Ensembl:ENSG00000157538 MIM:605298
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DCRA; DSCR3; DSCRA
Summary
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 11.4), duodenum (RPKM 10.8) and 25 other tissues See more
Orthologs

Genomic context

See VPS26C in Genome Data Viewer
Location:
21q22.13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (37223420..37268108, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38595721..38640425, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene TTC3 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1A Neighboring gene VISTA enhancer hs2333 Neighboring gene uncharacterized LOC105372797

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-24)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-24)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde transport, endosome to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 26C
Names
DSCR3 arrestin fold containing
Down syndrome critical region 3
Down syndrome critical region gene 3
Down syndrome critical region protein 3
Down syndrome critical region protein A

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009410.1 RefSeqGene

    Range
    5200..49112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001331018.1NP_001317947.1  vacuolar protein sorting-associated protein 26C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK303624, AP001412, BX648191, D87343, DA311783, DB286372
    Consensus CDS
    CCDS82671.1
    UniProtKB/Swiss-Prot
    O14972
    UniProtKB/TrEMBL
    A8MY26
    Related
    ENSP00000381967.1, ENST00000399001.5
    Conserved Domains (1) summary
    cl22903
    Location:31158
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  2. NM_001331021.1NP_001317950.1  vacuolar protein sorting-associated protein 26C isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK303624, AP001412, AP001432, BX648191
    Consensus CDS
    CCDS82672.1
    UniProtKB/TrEMBL
    A8MTY9, A8MY26
    Related
    ENSP00000381964.1, ENST00000398998.1
  3. NM_001331022.1NP_001317951.1  vacuolar protein sorting-associated protein 26C isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK300024, AK303624, AP001412, BX648191, D87343, DA311783, DB286372
    Consensus CDS
    CCDS82673.1
    UniProtKB/Swiss-Prot
    O14972
    UniProtKB/TrEMBL
    A8MY26
    Related
    ENSP00000419496.1, ENST00000476950.5
    Conserved Domains (1) summary
    cl22903
    Location:1256
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain
  4. NM_006052.2NP_006043.1  vacuolar protein sorting-associated protein 26C isoform 1

    See identical proteins and their annotated locations for NP_006043.1

    Status: REVIEWED

    Source sequence(s)
    AP001412, AP001432
    Consensus CDS
    CCDS33553.1
    UniProtKB/Swiss-Prot
    O14972
    Related
    ENSP00000311399.6, ENST00000309117.11
    Conserved Domains (1) summary
    cl22903
    Location:1283
    Arrestin_N; Arrestin (or S-antigen), N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    37223420..37268108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center