CAPN12 (calpain 12)

2014-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 147968
MIM: 608839
HGNC: 13249
Ensembl: ENSG00000182472

Variants:

dbSNP: 147968
ClinVar: 147968
TCGA: ENSG00000182472
COSMIC: CAPN12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182472ENST00000328867Q6ZSI9
ENSG00000182472ENST00000594552M0QXJ6
ENSG00000182472ENST00000595177M0R052
ENSG00000182472ENST00000597740M0R0X4
ENSG00000182472ENST00000597987M0QZT6
ENSG00000182472ENST00000598684M0QZ20
ENSG00000182472ENST00000601953M0R3D7

Expression (GTEx)

0
5
10
15
20

Pathways

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

References

Pubmed IDYearTitleCitations
277698452017Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.2

Citation

Dessen P

CAPN12 (calpain 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61406/capn12