Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

20 Show/Hide all (20)

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

19 Show/Hide all (19)

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

MIM	HGNC	e!Ensembl
606285	16699	ENSG00000156395

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
PF00801	PKD	826 → 904	PKD domain	Domain
PF15901	Sortilin_C	660 → 816	Sortilin, neurotensin receptor 3, C-terminal	Domain
PF15902	Sortilin-Vps10	228 → 658	Sortilin, neurotensin receptor 3,	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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (37)
ALZHEIMER DISEASE	—	GWAS catalog	26830138	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	39294497	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	30478444, 31835028, 32606422, 33479212, 34446935, 35764056, 36137488, 36702997, 38036780, 38565336, 40962958	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	30804558, 31835028, 32606422, 33479212, 35764056, 38036780	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	37977914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31835028, 31926635, 33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATHEROSCLEROSIS	—	GWAS catalog	35156446	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	26305897	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	34187846	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	38965376, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	37085903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	27089181, 27479909, 29292387, 29662059, 29700475, 29942085, 30643256, 30718901, 30804558, 31835028, 31926635, 32231276, 32606422, 33479212, 33859377, 34045744, 34586374, 34924174, 36750733, 37464041, 37985818, 38177345, 41233554	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	32534018	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30595370, 30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	35186008	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 31374203, 31835028, 32606422, 33169155, 33479212, 35396580, 36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★★★★ ★★☆☆☆ 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	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (28)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
LRFN5	7	["Anorexia nervosa","Anxiety disorder","Tourette syndrome","Irritable bowel syndrome","Obsessive-compulsive disorder","Post-traumatic stress disorder","Psychiatric disorders"]	[]	7	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Anxiety disorder)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Post-traumatic stress disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
NCAM1	7	["Anorexia nervosa","Anxiety disorder","Mood disorder","Gastroesophageal reflux disease","Irritable bowel syndrome","Obsessive-compulsive disorder","Post-traumatic stress disorder"]	[]	7	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Anxiety disorder)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Post-traumatic stress disorder)"]
TMPRSS5	6	["Anorexia nervosa","Anxiety disorder","Mood disorder","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	6	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Anxiety disorder)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
TSNARE1	5	["Anorexia nervosa","Gastroesophageal reflux disease","Tourette syndrome","Obsessive-compulsive disorder","Post-traumatic stress disorder"]	[]	5	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Post-traumatic stress disorder)","GWAS catalog (Tourette syndrome)"]
PCLO	7	["Anorexia nervosa","Anxiety disorder","Tourette syndrome","Irritable bowel syndrome","Obsessive-compulsive disorder","Post-traumatic stress disorder","Psychiatric disorders"]	[]	7	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Anxiety disorder)","GWAS catalog (Irritable bowel syndrome)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Post-traumatic stress disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]

SORCS3 (sortilin related VPS10 domain containing receptor 3)

Save This Analysis