CAST (calpastatin)

2009-05-01  

Identity

HGNC
CAST
LOCATION
5q15
LOCUSID
831
ALIAS
BS-17,PLACK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 831
MIM: 114090
HGNC: 1515
Ensembl: ENSG00000153113

Variants:

dbSNP: 831
ClinVar: 831
TCGA: ENSG00000153113
COSMIC: CAST

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153113ENST00000309190P20810
ENSG00000153113ENST00000325674A0A0A0MR45
ENSG00000153113ENST00000338252P20810
ENSG00000153113ENST00000341926P20810
ENSG00000153113ENST00000395812P20810
ENSG00000153113ENST00000395813P20810
ENSG00000153113ENST00000421689E9PSG1
ENSG00000153113ENST00000437034H0Y7F0
ENSG00000153113ENST00000484552H0YD33
ENSG00000153113ENST00000503828D6RAA8
ENSG00000153113ENST00000504465E9PDE4
ENSG00000153113ENST00000505143H0Y944
ENSG00000153113ENST00000506811E7EN75
ENSG00000153113ENST00000508117D6RBZ8
ENSG00000153113ENST00000508197E7EQK6
ENSG00000153113ENST00000508579E7EQ12
ENSG00000153113ENST00000508608A0A0C4DGB5
ENSG00000153113ENST00000508830P20810
ENSG00000153113ENST00000509259D6RC54
ENSG00000153113ENST00000509903E9PCH5
ENSG00000153113ENST00000510098A0A0C4DGD1
ENSG00000153113ENST00000510156E7ES10
ENSG00000153113ENST00000510500H0Y9H6
ENSG00000153113ENST00000510756P20810
ENSG00000153113ENST00000511049E7EVY3
ENSG00000153113ENST00000511097F8W7E0
ENSG00000153113ENST00000511782B7Z574
ENSG00000153113ENST00000512620H0YA91
ENSG00000153113ENST00000514055D6RGF7
ENSG00000153113ENST00000514845D6RBR1
ENSG00000153113ENST00000515663E7EQA0

Expression (GTEx)

0
50
100
150
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

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Neurodegenerative DiseasesREACTOMER-HSA-8863678
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease modelsREACTOMER-HSA-8862803

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373875352023Novel nonsense CAST mutation in two siblings with PLACK syndrome.0
373875352023Novel nonsense CAST mutation in two siblings with PLACK syndrome.0
341912702021Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.2
344406322021Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.6
341912702021Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype.2
344406322021Critical Roles of Calpastatin in Ischemia/Reperfusion Injury in Aged Livers.6
304488822019Calpain system protein expression and activity in ovarian cancer.16
309590652019A new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.2
313925202019A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.0
304488822019Calpain system protein expression and activity in ovarian cancer.16
309590652019A new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation.2
313925202019A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.0
294287992018Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population.5
295723882018Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain.0
294287992018Evaluating the association between calpastatin (CAST) gene and keratoconus in the Han Chinese population.5

Citation

Dessen P

CAST (calpastatin)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50931/cast-(calpastatin)