U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SORCS3 sortilin related VPS10 domain containing receptor 3 [ Homo sapiens (human) ]

Gene ID: 22986, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SORCS3provided by HGNC
Official Full Name
sortilin related VPS10 domain containing receptor 3provided by HGNC
Primary source
HGNC:HGNC:16699
See related
Ensembl:ENSG00000156395 MIM:606285; AllianceGenome:HGNC:16699
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
SORCS
Summary
This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
Expression
Biased expression in brain (RPKM 4.8), adrenal (RPKM 1.2) and 1 other tissue See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See SORCS3 in Genome Data Viewer
Location:
10q25.1
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104641290..105265242)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105529365..106155464)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (106401048..107025000)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106240617-106241118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106241119-106241618 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:106267772-106267962 Neighboring gene long intergenic non-protein coding RNA 2620 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293232-106293744 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293745-106294257 Neighboring gene uncharacterized LOC105378464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106440811-106441310 Neighboring gene SORCS3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:106494760-106495717 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:106568733-106569932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:106827987-106829186 Neighboring gene uncharacterized LOC105378465 Neighboring gene uncharacterized LOC105378466 Neighboring gene uncharacterized LOC105378467

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits. Kamran M, et al. Genes (Basel), 2023 Feb 14. PMID 36833409, Free PMC Article
  2. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Demontis D, et al. Nat Genet, 2023 Feb. PMID 36702997, Free PMC Article
  3. Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3. Dong F, et al. Biochem Biophys Res Commun, 2022 Oct 8. PMID 35940132
  4. SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression. Zhang Y, et al. Cell Death Dis, 2022 Apr 7. PMID 35393432, Free PMC Article
  5. The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability. Alfadhel M, et al. Discov Med, 2018 Oct. PMID 30586538

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits.
    Title: Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits.
  2. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
    Title: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
  3. Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3.
    Title: Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3.
  4. SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression.
    Title: SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression.
  5. Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
    Title: Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
  6. First study reporting on human subjects with a SORCS3 gene defect with infantile spasms and intellectual disability; this supports the important role of SORCS3 in the central nervous system.
    Title: The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.
  7. SORCS3 may be important in MS pathogenesis.
    Title: Genetic analysis of the isolated Faroe Islands reveals SORCS3 as a potential multiple sclerosis risk gene.
  8. Here the authors have characterized SorCS1, SorCS2 and SorCS3 using biochemical methods and electron microscopy. They found that their purified extracellular domains co-exist in stable dimeric and monomeric populations.
    Title: Hidden Twins: SorCS Neuroreceptors Form Stable Dimers.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • 6330404A12Rik

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables neuropeptide receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in learning IEA
Inferred from Electronic Annotation
more info
  
involved_in memory IEA
Inferred from Electronic Annotation
more info
  
involved_in neuropeptide signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in postsynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
VPS10 domain-containing receptor SorCS3
Names
VPS10 domain receptor protein SORCS 3 (SORCS3)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_014978.3 → NP_055793.1  VPS10 domain-containing receptor SorCS3 precursor

    See identical proteins and their annotated locations for NP_055793.1

    Status: REVIEWED

    Source sequence(s)
    AB028982, AL353900, BC045754
    Consensus CDS
    CCDS7558.1
    UniProtKB/Swiss-Prot
    Q5VXF9, Q9NQJ2, Q9UPU3
    UniProtKB/TrEMBL
    Q17R88
    Related
    ENSP00000358715.3, ENST00000369701.8
    Conserved Domains (4) summary
    smart00602
    Location:219 → 817
    VPS10; VPS10 domain
    pfam00801
    Location:831 → 904
    PKD; PKD domain
    pfam12300
    Location:73 → 184
    DUF3628; Protein of unknown function (DUF3628)
    pfam15901
    Location:665 → 817
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    104641290..105265242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539542.2 → XP_011537844.1  VPS10 domain-containing receptor SorCS3 isoform X1

    Conserved Domains (3) summary
    smart00602
    Location:1 → 461
    VPS10; VPS10 domain
    pfam00801
    Location:475 → 548
    PKD; PKD domain
    pfam15901
    Location:309 → 461
    Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    105529365..106155464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365273.1 → XP_054221248.1  VPS10 domain-containing receptor SorCS3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UPU3.2 GenPept UniProtKB/Swiss-Prot:Q9UPU3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous