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Aliases for SORCS3 Gene

Aliases for SORCS3 Gene

  • Sortilin Related VPS10 Domain Containing Receptor 3 2 3 5
  • Sortilin-Related VPS10 Domain Containing Receptor 3 2
  • VPS10 Domain Receptor Protein SORCS 3 (SORCS3) 3
  • VPS10 Domain-Containing Receptor SorCS3 3
  • KIAA1059 4
  • SORCS 3

External Ids for SORCS3 Gene

Previous GeneCards Identifiers for SORCS3 Gene

  • GC10P105294
  • GC10P105634
  • GC10P106532
  • GC10P106065
  • GC10P106390
  • GC10P100032

Summaries for SORCS3 Gene

Entrez Gene Summary for SORCS3 Gene

  • 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]

GeneCards Summary for SORCS3 Gene

SORCS3 (Sortilin Related VPS10 Domain Containing Receptor 3) is a Protein Coding gene. Diseases associated with SORCS3 include Alzheimer Disease. GO annotations related to this gene include neuropeptide receptor activity. An important paralog of this gene is SORCS1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORCS3 Gene

Genomics for SORCS3 Gene

Regulatory Elements for SORCS3 Gene

Enhancers for SORCS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F104640 0.7 FANTOM5 14.4 -1.2 -1226 0.1 ZNF263 SP3 RNF2 MAX ZEB1 ZNF366 ZNF512 ZNF341 PRDM10 EZH2 SORCS3 CFAP43 LOC105378464
GH10F103914 1.1 ENCODE 5.5 -723.3 -723324 6.1 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207 SP3 SLK STN1 SORCS3 GC10M103885
GH10F104642 0.5 FANTOM5 7.8 +1.5 1544 0.1 ZBTB48 EZH2 SORCS3-AS1 SORCS3 CFAP43
GH10F104735 0.6 Ensembl ENCODE 5.7 +95.0 94962 1.4 MNT SORCS3 SORCS3-AS1 GC10P105124
GH10F104705 0.3 FANTOM5 6.4 +64.4 64403 0.0 SORCS3 SORCS3-AS1 GC10P105124
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SORCS3 on UCSC Golden Path with GeneCards custom track

Promoters for SORCS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001763828 1563 401 CTBP2 EZH2

Genomic Location for SORCS3 Gene

Chromosome:
10
Start:
104,640,837 bp from pter
End:
105,265,250 bp from pter
Size:
624,414 bases
Orientation:
Plus strand

Genomic View for SORCS3 Gene

Genes around SORCS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORCS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORCS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORCS3 Gene

Proteins for SORCS3 Gene

  • Protein details for SORCS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPU3-SORC3_HUMAN
    Recommended name:
    VPS10 domain-containing receptor SorCS3
    Protein Accession:
    Q9UPU3
    Secondary Accessions:
    • Q5VXF9
    • Q9NQJ2

    Protein attributes for SORCS3 Gene

    Size:
    1222 amino acids
    Molecular mass:
    135755 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SORCS3 Gene

Post-translational modifications for SORCS3 Gene

  • Glycosylation at Asn 207, Asn 456, Asn 789, Asn 800, Asn 840, Asn 932, Asn 953, and Asn 1065
  • Modification sites at PhosphoSitePlus

Other Protein References for SORCS3 Gene

No data available for DME Specific Peptides for SORCS3 Gene

Domains & Families for SORCS3 Gene

Protein Domains for SORCS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPU3

UniProtKB/Swiss-Prot:

SORC3_HUMAN :
  • Contains 1 PKD domain.
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
  • Contains 6 BNR repeats.
Domain:
  • Contains 1 PKD domain.
Family:
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
Similarity:
  • Contains 6 BNR repeats.
genes like me logo Genes that share domains with SORCS3: view

No data available for Gene Families for SORCS3 Gene

Function for SORCS3 Gene

Gene Ontology (GO) - Molecular Function for SORCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008188 neuropeptide receptor activity NAS 11499680
genes like me logo Genes that share ontologies with SORCS3: view
genes like me logo Genes that share phenotypes with SORCS3: view

Animal Models for SORCS3 Gene

MGI Knock Outs for SORCS3:

Animal Model Products

miRNA for SORCS3 Gene

miRTarBase miRNAs that target SORCS3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SORCS3 Gene

Localization for SORCS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORCS3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SORCS3 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for SORCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane NAS 11499680
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SORCS3: view

Pathways & Interactions for SORCS3 Gene

SuperPathways for SORCS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SORCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007218 neuropeptide signaling pathway NAS 11499680
GO:0007612 learning IEA --
GO:0007613 memory IEA --
GO:1900452 regulation of long term synaptic depression IEA --
genes like me logo Genes that share ontologies with SORCS3: view

No data available for Pathways by source and SIGNOR curated interactions for SORCS3 Gene

Transcripts for SORCS3 Gene

mRNA/cDNA for SORCS3 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SORCS3 Gene

Sortilin-related VPS10 domain containing receptor 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORCS3 Gene

No ASD Table

Relevant External Links for SORCS3 Gene

GeneLoc Exon Structure for
SORCS3
ECgene alternative splicing isoforms for
SORCS3

Expression for SORCS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SORCS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SORCS3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.4), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Frontal Cortex (BA9) (x5.2), Brain - Hypothalamus (x5.0), Brain - Putamen (basal ganglia) (x4.4), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for SORCS3 Gene

This gene is overexpressed in Cerebrospinal fluid (34.9) and Amniocyte (30.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SORCS3 Gene



Protein tissue co-expression partners for SORCS3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SORCS3 Gene:

SORCS3

SOURCE GeneReport for Unigene cluster for SORCS3 Gene:

Hs.671950

mRNA Expression by UniProt/SwissProt for SORCS3 Gene:

Q9UPU3-SORC3_HUMAN
Tissue specificity: Highly expressed in brain.
genes like me logo Genes that share expression patterns with SORCS3: view

Primer Products

Orthologs for SORCS3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SORCS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SORCS3 34
  • 99.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SORCS3 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORCS3 34 35
  • 91.07 (n)
cow
(Bos Taurus)
Mammalia SORCS3 34 35
  • 90.97 (n)
mouse
(Mus musculus)
Mammalia Sorcs3 34 16 35
  • 88.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SORCS3 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sorcs3 34
  • 87.75 (n)
chicken
(Gallus gallus)
Aves SORCS3 34 35
  • 75.12 (n)
lizard
(Anolis carolinensis)
Reptilia SORCS3 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498333 34
  • 73.59 (n)
zebrafish
(Danio rerio)
Actinopterygii sorcs3 34
  • 66.7 (n)
CABZ01076351.1 35
  • 60 (a)
OneToMany
SORCS3 (2 of 2) 35
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 18 (a)
ManyToMany
-- 35
  • 18 (a)
ManyToMany
-- 35
  • 17 (a)
ManyToMany
-- 35
  • 14 (a)
ManyToMany
-- 35
  • 12 (a)
ManyToMany
PEP1 35
  • 12 (a)
ManyToMany
VTH1 35
  • 11 (a)
ManyToMany
VTH2 35
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for SORCS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SORCS3 Gene

ENSEMBL:
Gene Tree for SORCS3 (if available)
TreeFam:
Gene Tree for SORCS3 (if available)

Paralogs for SORCS3 Gene

Paralogs for SORCS3 Gene

(3) SIMAP similar genes for SORCS3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SORCS3: view

Variants for SORCS3 Gene

Sequence variations from dbSNP and Humsavar for SORCS3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10082360 -- 104,766,361(+) TCCCA(C/T)GTGTG intron-variant
rs10082372 -- 104,836,771(+) TCCTG(C/T)GTATA intron-variant
rs10082496 -- 105,197,180(+) CATAA(A/G)GTCAC intron-variant
rs1011245 -- 104,793,244(+) AGTCT(A/G)TATTC intron-variant
rs10128431 -- 105,178,803(+) TCCCC(C/T)ACTCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SORCS3 Gene

Variant ID Type Subtype PubMed ID
nsv957612 CNV deletion 24416366
nsv951842 CNV deletion 24416366
nsv831974 CNV gain 17160897
nsv831973 CNV gain 17160897
nsv831972 CNV gain 17160897
nsv7537 CNV insertion 18451855
nsv528837 CNV gain 19592680
nsv527793 CNV gain 19592680
nsv526841 CNV loss 19592680
nsv524731 CNV gain 19592680
nsv476090 CNV novel sequence insertion 20440878
nsv473162 CNV novel sequence insertion 20440878
nsv473149 CNV novel sequence insertion 20440878
nsv1137958 CNV deletion 24896259
nsv1134053 CNV deletion 24896259
nsv1129500 CNV tandem duplication 24896259
nsv1069074 CNV deletion 25765185
nsv1069073 CNV deletion 25765185
nsv1040384 CNV gain 25217958
esv995155 CNV deletion 20482838
esv3624435 CNV loss 21293372
esv3624434 CNV loss 21293372
esv3579101 CNV loss 25503493
esv3579100 CNV loss 25503493
esv3579099 CNV loss 25503493
esv3546792 CNV deletion 23714750
esv3444100 CNV insertion 20981092
esv3439265 CNV insertion 20981092
esv3435933 CNV insertion 20981092
esv3364739 CNV insertion 20981092
esv3332136 CNV insertion 20981092
esv3305825 CNV mobile element insertion 20981092
esv2740406 CNV deletion 23290073
esv2740395 CNV deletion 23290073
esv2662027 CNV deletion 23128226
esv26127 CNV loss 19812545
esv1433381 CNV deletion 17803354
esv1171448 CNV insertion 17803354
dgv281e212 CNV loss 25503493
dgv168e199 CNV deletion 23128226

Variation tolerance for SORCS3 Gene

Residual Variation Intolerance Score: 2.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.51; 64.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SORCS3 Gene

Human Gene Mutation Database (HGMD)
SORCS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORCS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORCS3 Gene

Disorders for SORCS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SORCS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SORCS3

Genetic Association Database (GAD)
SORCS3
Human Genome Epidemiology (HuGE) Navigator
SORCS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SORCS3
genes like me logo Genes that share disorders with SORCS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SORCS3 Gene

Publications for SORCS3 Gene

  1. The genes for the human VPS10 domain-containing receptors are large and contain many small exons. (PMID: 11499680) Hampe W. … Schaller H.C. (Hum. Genet. 2001) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The Vps10p-domain receptor family. (PMID: 19434368) Hermey G. (Cell. Mol. Life Sci. 2009) 3 22 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64

Products for SORCS3 Gene

Sources for SORCS3 Gene

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