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Aliases for SORCS3 Gene

Aliases for SORCS3 Gene

  • Sortilin-Related VPS10 Domain Containing Receptor 3 2 3
  • VPS10 Domain Receptor Protein SORCS 3 (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 SORCS2.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SORCS3 Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SORCS3 Gene

Domains & Families for SORCS3 Gene

Protein Domains for SORCS3 Gene

InterPro:
Blocks:
ProtoNet:

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:0005515 protein binding --
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 Model Products

miRNA for SORCS3 Gene

miRTarBase miRNAs that target SORCS3

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SORCS3

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for SORCS3 Gene COMPARTMENTS Subcellular localization image for SORCS3 gene
Compartment Confidence
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for SORCS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane NAS 11499680
GO:0016021 integral component of membrane IEA --
GO:0097481 neuronal postsynaptic density IEA --
genes like me logo Genes that share ontologies with SORCS3: view

Pathways & Interactions for SORCS3 Gene

SuperPathways for SORCS3 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for SORCS3 Gene

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

(3) 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

  • Predesigned siRNA for gene silencing in human,mouse,rat for SORCS3

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 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



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

Protein tissue co-expression partners for SORCS3 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SORCS3 35
  • 90.97 (n)
  • 93.94 (a)
SORCS3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORCS3 35
  • 91.07 (n)
  • 94.94 (a)
SORCS3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sorcs3 35
  • 88.35 (n)
  • 92.62 (a)
Sorcs3 16
Sorcs3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SORCS3 35
  • 99.37 (n)
  • 99.4 (a)
rat
(Rattus norvegicus)
Mammalia Sorcs3 35
  • 87.75 (n)
  • 92.62 (a)
oppossum
(Monodelphis domestica)
Mammalia SORCS3 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORCS3 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORCS3 35
  • 75.12 (n)
  • 80.03 (a)
SORCS3 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SORCS3 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498333 35
  • 73.59 (n)
  • 76.94 (a)
zebrafish
(Danio rerio)
Actinopterygii sorcs3 35
  • 66.7 (n)
  • 67.16 (a)
CABZ01076351.1 36
  • 60 (a)
OneToMany
SORCS3 (2 of 2) 36
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 18 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
-- 36
  • 12 (a)
ManyToMany
-- 36
  • 14 (a)
ManyToMany
PEP1 36
  • 12 (a)
ManyToMany
VTH1 36
  • 11 (a)
ManyToMany
VTH2 36
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for SORCS3:
  • 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 MAF
rs17078 -- 104,893,553(-) TGTCA(C/T)CTGTC intron-variant
rs703456 -- 105,106,855(-) ACTTA(C/T)GAATA intron-variant
rs703457 -- 105,037,436(+) TGGCA(A/G)GTGGG intron-variant
rs703458 -- 105,037,460(+) GTGAA(A/G)CATTT intron-variant
rs703459 -- 105,076,396(-) AATCT(C/T)ACCGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831972 CNV Gain 17160897
esv269089 CNV Insertion 20981092
esv1171448 CNV Insertion 17803354
esv270102 CNV Insertion 20981092
nsv831973 CNV Gain 17160897
nsv527793 CNV Gain 19592680
esv2662027 CNV Deletion 23128226
nsv7537 CNV Insertion 18451855
dgv168e199 CNV Deletion 23128226
nsv528837 CNV Gain 19592680
esv26127 CNV Loss 19812545
esv271813 CNV Insertion 20981092
esv2740395 CNV Deletion 23290073
esv995155 CNV Deletion 20482838
esv1433381 CNV Deletion 17803354
esv2740406 CNV Deletion 23290073
nsv831974 CNV Gain 17160897
esv272563 CNV Insertion 20981092
esv271018 CNV Insertion 20981092
nsv524731 CNV Gain 19592680
nsv526841 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
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

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 Vps10p-domain receptor family. (PMID: 19434368) Hermey G. (Cell. Mol. Life Sci. 2009) 23 67
  2. 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 67
  3. The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review. (PMID: 25332075) Reitz C. (Mol. Genet. Genomics 2015) 67
  4. Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP). (PMID: 23673467) Reitz C. … Mayeux R. (Transl Psychiatry 2013) 67
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 67

Products for SORCS3 Gene

Sources for SORCS3 Gene

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