SORCS3 (sortilin related VPS10 domain containing receptor 3)

2014-11-01  

Identity

HGNC
SORCS3
LOCATION
10q25.1
LOCUSID
22986
ALIAS
SORCS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22986
MIM: 606285
HGNC: 16699
Ensembl: ENSG00000156395

Variants:

dbSNP: 22986
ClinVar: 22986
TCGA: ENSG00000156395
COSMIC: SORCS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156395ENST00000369699Q9UPU3
ENSG00000156395ENST00000369701Q9UPU3
ENSG00000156395ENST00000393176Q5CAJ2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
367029972023Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.101
368334092023Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits.2
367029972023Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.101
368334092023Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits.2
353934322022SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression.5
359401322022Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3.1
353934322022SorCS3 promotes the internalization of p75(NTR) to inhibit GBM progression.5
359401322022Cryo-EM structure studies of the human VPS10 domain-containing receptor SorCS3.1
329666942021Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.15
329666942021Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.15
305865382018The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.5
305865382018The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.5
288271482017Hidden Twins: SorCS Neuroreceptors Form Stable Dimers.10
288271482017Hidden Twins: SorCS Neuroreceptors Form Stable Dimers.10
263628882016Genetic analysis of the isolated Faroe Islands reveals SORCS3 as a potential multiple sclerosis risk gene.3

Citation

Dessen P

SORCS3 (sortilin related VPS10 domain containing receptor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74073/css/js/welcome