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
379491512024Role of calpain-5 in cerebral ischemia and reperfusion injury.1
379491512024Role of calpain-5 in cerebral ischemia and reperfusion injury.1
363698662023Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.0
363698662023Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.0
353986132022Mitochondrial calpain-5 truncates caspase-4 during endoplasmic reticulum stress.4
353986132022Mitochondrial calpain-5 truncates caspase-4 during endoplasmic reticulum stress.4
327072002021Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.0
336071902021Characterization of mitochondrial calpain-5.0
338119372021The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.6
327072002021Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.0
336071902021Characterization of mitochondrial calpain-5.0
338119372021The C2 domain of calpain 5 contributes to enzyme activation and membrane localization.6
319682602020Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.9
319682602020Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.9
311102252019Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.4

Citation

Dessen P

CAPN5 (calpain 5)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50655/capn5-(calpain-5)