CAPN10 (calpain 10)

2008-01-01  

Identity

HGNC
CAPN10
LOCATION
2q37.3
LOCUSID
11132
ALIAS
CANP10,NIDDM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11132
MIM: 605286
HGNC: 1477
Ensembl: ENSG00000142330

Variants:

dbSNP: 11132
ClinVar: 11132
TCGA: ENSG00000142330
COSMIC: CAPN10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142330ENST00000270361Q9HC96
ENSG00000142330ENST00000270364Q9HC96
ENSG00000142330ENST00000352879Q9HC96
ENSG00000142330ENST00000354082Q9HC96
ENSG00000142330ENST00000357048Q9HC96
ENSG00000142330ENST00000391983Q9HC96
ENSG00000142330ENST00000391984Q9HC96
ENSG00000142330ENST00000404753B7WPF5
ENSG00000142330ENST00000416591Q9HC96
ENSG00000142330ENST00000416591A0A024R4A1
ENSG00000142330ENST00000426297H7C251
ENSG00000142330ENST00000432084H7C2P1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD19752882
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD25327507
PA450395metforminChemicalClinicalAnnotation, MultilinkAnnotationassociatedPD25327507
PA451578tacrolimusChemicalClinicalAnnotationassociatedPD19752882

References

Pubmed IDYearTitleCitations
200751502010Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.95
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
175707492005Genetic prediction of future type 2 diabetes.47
176019942007Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy.42
189364362009Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.42
150444592004RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets.34
118916182002Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.32
118916182002Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.32
193364752009Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.27
145746482003Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.26

Citation

Dessen P

CAPN10 (calpain 10)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49989/capn10