SORCS1 (sortilin related VPS10 domain containing receptor 1)

2014-08-01  

Identity

HGNC
SORCS1
LOCATION
10q25.1
LOCUSID
114815
ALIAS
hSorCS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114815
MIM: 606283
HGNC: 16697
Ensembl: ENSG00000108018

Variants:

dbSNP: 114815
ClinVar: 114815
TCGA: ENSG00000108018
COSMIC: SORCS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108018ENST00000263054Q8WY21
ENSG00000108018ENST00000344440A0A0A0MRC2
ENSG00000108018ENST00000369698X6R7D6
ENSG00000108018ENST00000452214H7C2U3
ENSG00000108018ENST00000612154A0A087WTQ9
ENSG00000108018ENST00000622431A0A087WTI0

Expression (GTEx)

0
10
20
30
40
50
60
70
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
208811292010Diabetes-associated SorCS1 regulates Alzheimer's amyloid-beta metabolism: evidence for involvement of SorL1 and the retromer complex.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198756142010A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.47
198756142010A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.47
192414602009Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.32
230554762012Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes.31

Citation

Dessen P

SORCS1 (sortilin related VPS10 domain containing receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54655/sorcs1