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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. Gene Ontology (GO) annotations related to this gene include neuropeptide receptor activity. An important paralog of this gene is SORCS1.

Additional gene information for SORCS3 Gene

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

Genomics for SORCS3 Gene

GeneHancer (GH) Regulatory Elements for SORCS3 Gene

Promoters and enhancers for SORCS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I104640 Enhancer 0.7 FANTOM5 564.4 -1.2 -1225 0.1 SP3 MAX ZEB1 ZNF366 ZNF341 ZNF512 PRDM10 ZBTB17 EZH2 SORCS3 CFAP43 LOC105378464
GH10I104642 Enhancer 0.5 FANTOM5 557.8 +1.5 1543 0.1 CTCF ZBTB48 EZH2 SORCS3 SORCS3-AS1 CFAP43
GH10I104639 Enhancer 0.5 ENCODE 550.8 -1.8 -1819 0 CTCF ZNF512 ZNF143 SIN3A ZBTB26 RAD21 EZH2 SORCS3 LOC105378464
GH10I104644 Enhancer 0.5 ENCODE 550.8 +1.8 1751 0.1 CTCF ZBTB48 ZNF143 CTBP2 EZH2 SORCS3 SORCS3-AS1
GH10I103914 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.5 -723.3 -723323 6.1 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 STN1 SLK SORCS3 GC10M103885
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SORCS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SORCS3 gene promoter:

Genomic Locations for SORCS3 Gene

Genomic Locations for SORCS3 Gene
chr10:104,640,837-105,265,250
(GRCh38/hg38)
Size:
624,414 bases
Orientation:
Plus strand
chr10:106,400,859-107,024,993
(GRCh37/hg19)

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 posLast=207207, posLast=456456, isoforms=789, posLast=800800, posLast=840840, posLast=932932, isoforms=953, and posLast=10651065

Other Protein References for SORCS3 Gene

No data available for DME Specific Peptides for SORCS3 Gene

Domains & Families for SORCS3 Gene

Gene Families for SORCS3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9UPU3

UniProtKB/Swiss-Prot:

SORC3_HUMAN :
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
Family:
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
genes like me logo Genes that share domains with SORCS3: view

Function for SORCS3 Gene

Phenotypes From GWAS Catalog 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:

miRNA for SORCS3 Gene

miRTarBase miRNAs that target SORCS3

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SORCS3 Gene

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

Drugs & Compounds for SORCS3 Gene

No Compound Related Data Available

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:

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for SORCS3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SORCS3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SORCS3 Gene

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 33
  • 99.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SORCS3 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORCS3 33 34
  • 91.07 (n)
cow
(Bos Taurus)
Mammalia SORCS3 33 34
  • 90.97 (n)
mouse
(Mus musculus)
Mammalia Sorcs3 33 16 34
  • 88.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SORCS3 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sorcs3 33
  • 87.75 (n)
chicken
(Gallus gallus)
Aves SORCS3 33 34
  • 75.12 (n)
lizard
(Anolis carolinensis)
Reptilia SORCS3 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498333 33
  • 73.59 (n)
zebrafish
(Danio rerio)
Actinopterygii sorcs3 33
  • 66.7 (n)
CABZ01076351.1 34
  • 60 (a)
OneToMany
SORCS3 (2 of 2) 34
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 18 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 14 (a)
ManyToMany
-- 34
  • 12 (a)
ManyToMany
PEP1 34
  • 12 (a)
ManyToMany
VTH1 34
  • 11 (a)
ManyToMany
VTH2 34
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000006720 -- 105,113,665(+) G/A intron_variant
rs1000009117 -- 105,100,821(+) C/T intron_variant
rs1000010385 -- 104,956,188(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000011593 -- 104,661,190(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000012238 -- 104,871,913(+) T/A genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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
  • ad
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SORCS3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HC (Human genetics 2001) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. The Vps10p-domain receptor family. (PMID: 19434368) Hermey G (Cellular and molecular life sciences : CMLS 2009) 3 22 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58

Products for SORCS3 Gene

Sources for SORCS3 Gene

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