CAPN5 (calpain 5)

2009-01-01  

Identity

HGNC
LOCATION
11q13.5
LOCUSID
ALIAS
ADNIV,HTRA3,VRNI,nCL-3
FUSION GENES

Other Information

Locus ID:

NCBI: 726
MIM: 602537
HGNC: 1482
Ensembl: ENSG00000149260

Variants:

dbSNP: 726
ClinVar: 726
TCGA: ENSG00000149260
COSMIC: CAPN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149260ENST00000456580E7EV01
ENSG00000149260ENST00000527066E9PS73
ENSG00000149260ENST00000529629O15484
ENSG00000149260ENST00000529629A0A140VKH4
ENSG00000149260ENST00000531028O15484
ENSG00000149260ENST00000531028A0A140VKH4
ENSG00000149260ENST00000648180O15484
ENSG00000149260ENST00000648180A0A140VKH4
ENSG00000149260ENST00000648752A0A3B3IRX8

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
230559452012Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.32
259945082015CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.18
258563032015Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.17
243813072014Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.16
188294472008Calpain5 expression is decreased in endometriosis and regulated by HOXA10 in human endometrial cells.14
154649802004Molecular cloning and characterization of rat and human calpain-5.13
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

CAPN5 (calpain 5)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50655/capn5