SORCS3 (sortilin related VPS10 domain containing receptor 3)

Gene

• Entrez ID: 22986
• Gene name: Sortilin related VPS10 domain containing receptor 3
• Gene symbol: SORCS3
• Synonyms (NCBI Gene): SORCS
• Chromosome: 10
• Chromosome location: 10q25.1
• 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 do

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017921	hsa-miR-335-5p	Microarray	18185580
MIRT029554	hsa-miR-26b-5p	Microarray	19088304
MIRT1379587	hsa-miR-1264	CLIP-seq
MIRT1379588	hsa-miR-188-3p	CLIP-seq
MIRT1379589	hsa-miR-3148	CLIP-seq
MIRT1379590	hsa-miR-3659	CLIP-seq
MIRT1379591	hsa-miR-4271	CLIP-seq
MIRT1379592	hsa-miR-4457	CLIP-seq
MIRT1379593	hsa-miR-4693-3p	CLIP-seq
MIRT1379594	hsa-miR-4725-3p	CLIP-seq
MIRT1379595	hsa-miR-4786-5p	CLIP-seq
MIRT1379596	hsa-miR-625	CLIP-seq
MIRT2113395	hsa-miR-4719	CLIP-seq
MIRT2113396	hsa-miR-513b	CLIP-seq
MIRT2336436	hsa-miR-1825	CLIP-seq
MIRT2336437	hsa-miR-586	CLIP-seq
MIRT1379591	hsa-miR-4271	CLIP-seq
MIRT1379593	hsa-miR-4693-3p	CLIP-seq
MIRT1379594	hsa-miR-4725-3p	CLIP-seq
MIRT1379596	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15710408, 32296183
GO:0005886	Component	Plasma membrane	IDA	15710408
GO:0005886	Component	Plasma membrane	IEA
GO:0007218	Process	Neuropeptide signaling pathway	NAS	11499680
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0008188	Function	Neuropeptide receptor activity	NAS	11499680
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11499680
GO:0045202	Component	Synapse	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:1900452	Process	Regulation of long-term synaptic depression	IEA

Other IDs

• MIM: 606285
• HGNC: 16699
• e!Ensembl: ENSG00000156395

Protein

• UniProt ID: Q9UPU3
• Protein name: VPS10 domain-containing receptor SorCS3
• Protein function: Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localization ofAMPA-type glutamate receptors in the postsynaptic density.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15902	Sortilin-Vps10	228 → 658	Sortilin, neurotensin receptor 3,	Domain
  PF15901	Sortilin_C	660 → 816	Sortilin, neurotensin receptor 3, C-terminal	Domain
  PF00801	PKD	826 → 904	PKD domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain.
• Sequence:

  MEAARTERPAGRPGAPLVRTGLLLLSTWVLAGAEITWDATGGPGRPAAPASRPPALSPLS
  PRAVASQWPEELASARRAAVLGRRAGPELLPQQGGGRGGEMQVEAGGTSPAGERRGRGIP
  APAKLGGARRSRRAQPPITQERGDAWATAPADGSRGSRPLAKGSREEVKAPRAGGSAAED
  LRLPSTSFALTGDSAHNQAMVHWSGHNSSVILILTKLYDFNLGSVTESSLWRSTDYGTTY
  EKLNDKVGLKTVLSYLYVNPTNKRKIMLLSDPEMESSILISSDEGATYQKYRLTFYIQSL
  LFHPKQEDWVLAYSLDQKLYSSMDFGRRWQLMHERITPNRFYWSVAGLDKEADLVHMEVR
  TTDGYAHYLTCRIQECAETTRSGPFARSIDISSLVVQDEYIFIQVTTSGRASYYVSYRRE
  AFAQIKLPKYSLPKDMHIISTDENQVFAAVQEWNQNDTYNLYISDTRGIYFTLAMENIKS
  SRGLMGNIIIELYEVAGIKGIFLANKKVDDQVKTYITYNKGRDWRLLQAPDVDLRGSPVH
  CLLPFCSLHLHLQLSENPYSSGRISSKETAPGLVVATGNIGPELSYTDIGVFISSDGGNT
  WRQIFDEEYNVWFLDWGGALVAMKHTPLPVRHLWVSFDEGHSWDKYGFTSVPLFVDGALV
  EAGMETHIMTVFGHFSLRSEWQLVKVDYKSIFSRHCTKEDYQTWHLLNQGEPCVMGERKI
  FKKRKPGAQCALGRDHSGSVVSEPCVCANWDFECDYGYERHGESQCVPAFWYNPASPSKD
  CSLGQSYLNSTGYRRIVSNNCTDGLREKYTAKAQMCPGKAPRGLHVVTTDGRLVAEQGHN
  ATFIILMEEGDLQRTNIQLDFGDGIAVSYANFSPIEDGIKHVYKSAGIFQVTAYAENNLG
  SDTAVLFLHVVCPVEHVHLRVPFVAIRNKEVNISAVVWPSQLGTLTYFWWFGNSTKPLIT
  LDSSISFTFLAEGTDTITVQVAAGNALIQDTKEIAVHEYFQSQLLSFSPNLDYHNPDIPE
  WRKDIGNVIKRALVKVTSVPEDQILIAVFPGLPTSAELFILPPKNLTERRKGNEGDLEQI
  VETLFNALNQNLVQFELKPGVQVIVYVTQLTLAPLVDSSAGHSSSAMLMLLSVVFVGLAV
  FLIYKFKRKIPWINIYAQVQHDKEQEMIGSVSQSENAPKITLSDFTEPEELLDKELDTRV
  IGGIATIANSESTKEIPNCTSV

• Sequence length: 1222

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SORCS3-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	23673467	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	30586538, 32304290, 32966694	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	30478444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	36833409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	36833409	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	30804558		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	32966694	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	30586538	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29499509		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	39955494	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35393432	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35393432	Inhibit	★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	30586538		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30586538		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30586538	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909, 29662059, 29700475, 29942085, 30718901, 30804558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29499509		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28827148, 30061605		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26362888		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30586538	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	36833409, 38402365	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasms Infantile	Infantile spasms	Pubtator	30586538	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	26269563	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30586538		★☆☆☆☆ Found in Text Mining only