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SORCS2 sortilin related VPS10 domain containing receptor 2 [ Homo sapiens (human) ]

Gene ID: 57537, updated on 12-Oct-2019

Summary

Official Symbol
SORCS2provided by HGNC
Official Full Name
sortilin related VPS10 domain containing receptor 2provided by HGNC
Primary source
HGNC:HGNC:16698
See related
Ensembl:ENSG00000184985 MIM:606284
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
Summary
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 4.7), kidney (RPKM 2.0) and 20 other tissues See more
Orthologs

Genomic context

See SORCS2 in Genome Data Viewer
Location:
4p16.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (7192538..7742828)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (7194374..7744564)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374370 Neighboring gene long intergenic non-protein coding RNA 2447 Neighboring gene RN7SK pseudogene 36 Neighboring gene uncharacterized LOC105374371 Neighboring gene tRNA suppressor (anticodon TTA) 3-1 Neighboring gene microRNA 4798 Neighboring gene prosaposin like 1 (gene/pseudogene) Neighboring gene microRNA 4274 Neighboring gene Sharpr-MPRA regulatory region 5388 Neighboring gene uncharacterized LOC107986258 Neighboring gene heart enhancer 19 Neighboring gene AFAP1 antisense RNA 1 Neighboring gene actin filament associated protein 1

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
NHGRI GWA Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
neuropeptide receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
neuropeptide signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
VPS10 domain-containing receptor SorCS2
Names
VPS10 domain receptor protein

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.

mRNA and Protein(s)

  1. NM_020777.3NP_065828.2  VPS10 domain-containing receptor SorCS2 precursor

    See identical proteins and their annotated locations for NP_065828.2

    Status: REVIEWED

    Source sequence(s)
    AB037750, AC004169, AC097382, AF286190, DA215907, R37251
    Consensus CDS
    CCDS47008.1
    UniProtKB/Swiss-Prot
    Q96PQ0
    Related
    ENSP00000422185.2, ENST00000507866.6
    Conserved Domains (3) summary
    smart00602
    Location:170776
    VPS10; VPS10 domain
    pfam00801
    Location:787863
    PKD; PKD domain
    pfam15901
    Location:613776
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    7192538..7742828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247987.4XP_005248044.2  VPS10 domain-containing receptor SorCS2 isoform X1

    Conserved Domains (3) summary
    smart00602
    Location:170776
    VPS10; VPS10 domain
    pfam00801
    Location:787863
    PKD; PKD domain
    pfam15901
    Location:613776
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  2. XM_011513516.2XP_011511818.1  VPS10 domain-containing receptor SorCS2 isoform X5

    Related
    ENSP00000329124.10, ENST00000329016.10
    Conserved Domains (3) summary
    smart00602
    Location:170776
    VPS10; VPS10 domain
    pfam00801
    Location:787863
    PKD; PKD domain
    pfam15901
    Location:613776
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  3. XM_011513514.2XP_011511816.1  VPS10 domain-containing receptor SorCS2 isoform X2

    Conserved Domains (3) summary
    smart00602
    Location:170776
    VPS10; VPS10 domain
    pfam00801
    Location:787863
    PKD; PKD domain
    pfam15901
    Location:613776
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  4. XM_011513515.2XP_011511817.1  VPS10 domain-containing receptor SorCS2 isoform X3

    Conserved Domains (3) summary
    smart00602
    Location:170776
    VPS10; VPS10 domain
    pfam00801
    Location:787863
    PKD; PKD domain
    pfam15901
    Location:613776
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
  5. XM_017008481.1XP_016863970.1  VPS10 domain-containing receptor SorCS2 isoform X4

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