CAPN12 (calpain 12)

2014-11-01 Affiliation

Identity

HGNC

CAPN12

LOCATION

19q13.2

LOCUSID

147968

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182472	ENST00000328867	Q6ZSI9
ENSG00000182472	ENST00000594552	M0QXJ6
ENSG00000182472	ENST00000595177	M0R052
ENSG00000182472	ENST00000597740	M0R0X4
ENSG00000182472	ENST00000597987	M0QZT6
ENSG00000182472	ENST00000598684	M0QZ20
ENSG00000182472	ENST00000601953	M0R3D7

Expression (GTEx)

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

Pathway	Source	External ID
Extracellular matrix organization	REACTOME	R-HSA-1474244
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228

References

Pubmed ID	Year	Title	Citations
27769845	2017	Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.	0
27769845	2017	Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.	0

Citation

Dessen P

CAPN12 (calpain 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61406/favicon/css/lib/dataTables.bootstrap.min.css