Gene Gene information from NCBI Gene database.
Entrez ID 57537
Gene name Sortilin related VPS10 domain containing receptor 2
Gene symbol SORCS2
Synonyms (NCBI Gene)
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Chromosome 4
Chromosome location 4p16.1
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 e
miRNA miRNA information provided by mirtarbase database.
332
miRTarBase ID miRNA Experiments Reference
MIRT046267 hsa-miR-23b-3p CLASH 23622248
MIRT617529 hsa-miR-6800-3p HITS-CLIP 23824327
MIRT617528 hsa-miR-3183 HITS-CLIP 23824327
MIRT617527 hsa-miR-4723-3p HITS-CLIP 23824327
MIRT617526 hsa-miR-6769b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IEA
GO:0006886 Process Intracellular protein transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606284 16698 ENSG00000184985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PQ0
Protein name VPS10 domain-containing receptor SorCS2 [Cleaved into: SorCS2 122 kDa chain; SorCS2 104 kDa chain; SorCS2 18 kDa chain]
Protein function The heterodimer formed by NGFR and SORCS2 functions as receptor for the precursor forms of NGF (proNGF) and BDNF (proBDNF) (PubMed:22155786, PubMed:24908487). ProNGF and proBDNF binding both promote axon growth cone collapse (in vitro) (PubMed:2
PDB 1WGO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15902 Sortilin-Vps10 179 611 Sortilin, neurotensin receptor 3, Domain
PF15901 Sortilin_C 613 775 Sortilin, neurotensin receptor 3, C-terminal Domain
PF00801 PKD 788 863 PKD domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected on neurons in the caudate region (PubMed:28469074). Detected on neurons in the hippocampus (at protein level) (PubMed:30840898). Highly expressed in brain and kidney. Detected at low levels in heart, liver, small intestine, sk
Sequence
MAHRGPSRASKGPGPTARAPSPGAPPPPRSPRSRPLLLLLLLLGACGAAGRSPEPGRLGP
HAQLTRVPRSPPAGRAEPGGGEDRQARGTEPGAPGPSPGPAPGPGEDGAPAAGYRRWERA
APLAGVASRAQVSLISTSFVLKGDATHNQAMVHWTGENSSVILILTKYYHADMGKVLESS
LWRSSDFGTSYTKLTLQPGVTTVIDNFYICPTNKRKVILVSSSLSDRDQSLFLSADEGAT
FQKQPIPFFVETLIFHPKEEDKVLAYTKESKLYVSSDLGKKWTLLQERVTKDHVFWSVSG
VDADPDLVHVEAQDLGGDFRYVTCAIHNCSEKMLTAPFAGPIDHGSLTVQDDYIFFKATS
ANQTKYYVSYRRNEFVLMKLPKYALPKDLQIISTDESQVFVAVQEWYQMDTYNLYQSDPR
GVRYALVLQDVRSSRQAEESVLIDILEVRGVKGVFLANQKIDGKVMTLITYNKGRDWDYL
RPPSMDMNGKPTNCKPPDCHLHLHLRWADNPYVSGTVHTKDTAPGLIMGAGNLGSQLVEY
KEEMYITSDCGHTWRQVFEEEHHILYLDHGGVIVAIKDTSIPLKILKFSVDEGLTWSTHN
FTSTSVFVDGL
LSEPGDETLVMTVFGHISFRSDWELVKVDFRPSFSRQCGEEDYSSWELS
NLQGDRCIMGQQRSFRKRKSTSWCIKGRSFTSALTSRVCECRDSDFLCDYGFERSSSSES
STNKCSANFWFNPLSPPDDCALGQTYTSSLGYRKVVSNVCEGGVDMQQSQVQLQC
PLTPP
RGLQVSIQGEAVAVRPGEDVLFVVRQEQGDVLTTKYQVDLGDGFKAMYVNLTLTGEPIRH
RYESPGIYRVSVRAENTAGHDEA
VLFVQVNSPLQALYLEVVPVIGLNQEVNLTAVLLPLN
PNLTVFYWWIGHSLQPLLSLDNSVTTRFSDTGDVRVTVQAACGNSVLQDSRVLRVLDQFQ
VMPLQFSKELDAYNPNTPEWREDVGLVVTRLLSKETSVPQELLVTVVKPGLPTLADLYVL
LPPPRPTRKRSLSSDKRLAAIQQVLNAQKISFLLRGGVRVLVALRDTGTGAEQLGGGGGY
WAVVVLFVIGLFAAGAFILYKFKRKRPGRTVYAQMHNEKEQEMTSPVSHSEDVQGAVQGN
HSGVVLSINSREMHSYLVS
Sequence length 1159
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs150440148 RCV005908478
Clear cell carcinoma of kidney Benign rs150440148 RCV005908479
Malignant tumor of esophagus Uncertain significance rs368388764 RCV005927226
Uterine corpus endometrial carcinoma Benign rs150440148 RCV005908480
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Withdrawal Seizures Associate 30252935
Alzheimer Disease Associate 23673467
Anxiety Associate 35743044
Carcinoma Non Small Cell Lung Associate 21483023
Colorectal Neoplasms Associate 27609023
Death Associate 21483023
Diabetes Mellitus Associate 28068899
Fetal Diseases Associate 36585686
Neoplasms Associate 38111983
Obesity Associate 28068899