CAPN8 (calpain 8)

2018-02-01 Affiliation

Identity

HGNC

CAPN8

LOCATION

1q41

LOCUSID

388743

ALIAS

nCL-2

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: 388743
MIM: 618777
HGNC: 1485
Ensembl: ENSG00000203697

Variants:

dbSNP: 388743
ClinVar: 388743
TCGA: ENSG00000203697
COSMIC: CAPN8

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000203697	ENST00000366872	A6NHC0
ENSG00000203697	ENST00000366873	B1B154
ENSG00000203697	ENST00000442247	A3QK36
ENSG00000203697	ENST00000465098	H0YEJ4
ENSG00000203697	ENST00000467384	H0YDN4
ENSG00000203697	ENST00000484873	H0YEQ4

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
28002826	2016	The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations.	2
17646163	2007	Stomach-specific calpain, nCL-2/calpain 8, is active without calpain regulatory subunit and oligomerizes through C2-like domains.	0

Citation

Dessen P

CAPN8 (calpain 8)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57364/capn8