CAST (calpastatin)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 831
• Gene name: Calpastatin
• Gene symbol: CAST
• Synonyms (NCBI Gene): BS-17, MIR583HG, PLACK
• Chromosome: 5
• Chromosome location: 5q15
• Summary: The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786204842	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs786205140	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant

miRNA Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022430	hsa-miR-124-3p	Microarray	18668037
MIRT023661	hsa-miR-1-3p	Proteomics	18668040
MIRT028450	hsa-miR-30a-5p	Proteomics	18668040
MIRT046826	hsa-miR-222-3p	CLASH	23622248
MIRT437633	hsa-miR-150-5p	Microarray, qRT-PCR	22815788
MIRT864299	hsa-miR-129-5p	CLIP-seq
MIRT864300	hsa-miR-1912	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT864303	hsa-miR-3910	CLIP-seq
MIRT864304	hsa-miR-4269	CLIP-seq
MIRT864305	hsa-miR-4438	CLIP-seq
MIRT864306	hsa-miR-4476	CLIP-seq
MIRT864307	hsa-miR-4493	CLIP-seq
MIRT864308	hsa-miR-4521	CLIP-seq
MIRT864309	hsa-miR-4639-5p	CLIP-seq
MIRT864310	hsa-miR-4753-5p	CLIP-seq
MIRT864311	hsa-miR-4777-5p	CLIP-seq
MIRT864312	hsa-miR-5095	CLIP-seq
MIRT864313	hsa-miR-518d-5p	CLIP-seq
MIRT864314	hsa-miR-519b-5p	CLIP-seq
MIRT864315	hsa-miR-519c-5p	CLIP-seq
MIRT864316	hsa-miR-520c-5p	CLIP-seq
MIRT864317	hsa-miR-526a	CLIP-seq
MIRT864318	hsa-miR-759	CLIP-seq
MIRT864319	hsa-miR-892a	CLIP-seq
MIRT864320	hsa-miR-1275	CLIP-seq
MIRT864321	hsa-miR-4260	CLIP-seq
MIRT864322	hsa-miR-4665-5p	CLIP-seq
MIRT864323	hsa-miR-4723-5p	CLIP-seq
MIRT864324	hsa-miR-496	CLIP-seq
MIRT864325	hsa-miR-576-3p	CLIP-seq
MIRT1956185	hsa-miR-224	CLIP-seq
MIRT1956186	hsa-miR-340	CLIP-seq
MIRT1956187	hsa-miR-4307	CLIP-seq
MIRT1956188	hsa-miR-495	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT2436056	hsa-miR-1228	CLIP-seq
MIRT2436057	hsa-miR-2115	CLIP-seq
MIRT2436058	hsa-miR-3128	CLIP-seq
MIRT2436059	hsa-miR-3907	CLIP-seq
MIRT2436060	hsa-miR-3936	CLIP-seq
MIRT2436061	hsa-miR-4470	CLIP-seq
MIRT2436062	hsa-miR-516a-3p	CLIP-seq
MIRT2436056	hsa-miR-1228	CLIP-seq
MIRT2446211	hsa-miR-133a	CLIP-seq
MIRT2446212	hsa-miR-133b	CLIP-seq
MIRT2446213	hsa-miR-298	CLIP-seq
MIRT2436058	hsa-miR-3128	CLIP-seq
MIRT2446214	hsa-miR-342-3p	CLIP-seq
MIRT2446215	hsa-miR-3622a-3p	CLIP-seq
MIRT2446216	hsa-miR-3622b-3p	CLIP-seq
MIRT2446217	hsa-miR-3688-3p	CLIP-seq
MIRT2446218	hsa-miR-3914	CLIP-seq
MIRT2446219	hsa-miR-3915	CLIP-seq
MIRT2446220	hsa-miR-3928	CLIP-seq
MIRT2446221	hsa-miR-4328	CLIP-seq
MIRT2446222	hsa-miR-4802-3p	CLIP-seq
MIRT2446223	hsa-miR-494	CLIP-seq
MIRT2446224	hsa-miR-544b	CLIP-seq
MIRT2497090	hsa-miR-1245b-3p	CLIP-seq
MIRT864299	hsa-miR-129-5p	CLIP-seq
MIRT2497091	hsa-miR-1297	CLIP-seq
MIRT2497092	hsa-miR-1911	CLIP-seq
MIRT864301	hsa-miR-19a	CLIP-seq
MIRT864302	hsa-miR-19b	CLIP-seq
MIRT2497093	hsa-miR-26a	CLIP-seq
MIRT2497094	hsa-miR-26b	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497096	hsa-miR-3653	CLIP-seq
MIRT2497097	hsa-miR-3658	CLIP-seq
MIRT2497098	hsa-miR-4465	CLIP-seq
MIRT2497099	hsa-miR-4694-5p	CLIP-seq
MIRT2497100	hsa-miR-4760-5p	CLIP-seq
MIRT2497101	hsa-miR-4797-5p	CLIP-seq
MIRT1956188	hsa-miR-495	CLIP-seq
MIRT864319	hsa-miR-892a	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497102	hsa-miR-4768-5p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq
MIRT2497095	hsa-miR-3064-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	7638179
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 24462690
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA	14559243
GO:0005829	Component	Cytosol	TAS
GO:0010859	Function	Calcium-dependent cysteine-type endopeptidase inhibitor activity	IBA
GO:0010859	Function	Calcium-dependent cysteine-type endopeptidase inhibitor activity	IMP	2407243
GO:0016020	Component	Membrane	IDA	14559243
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:1990709	Process	Presynaptic active zone organization	IDA	27626661
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	IDA	15044459

Other IDs

• MIM: 114090
• HGNC: 1515
• e!Ensembl: ENSG00000310517

Protein

• UniProt ID: P20810
• Protein name: Calpastatin (Calpain inhibitor) (Sperm BS-17 component)
• Protein function: Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00748	Calpain_inhib	369 → 500	Calpain inhibitor	Family
  PF00748	Calpain_inhib	232 → 358	Calpain inhibitor	Family
  PF00748	Calpain_inhib	512 → 639	Calpain inhibitor	Family
  PF00748	Calpain_inhib	71 → 225	Calpain inhibitor	Family

• Sequence:

  MNPTETKAIPVSQQMEGPHLPNKKKHKKQAVKTEPEKKSQSTKLSVVHEKKSQEGKPKEH
  TEPKSLPKQASDTGSNDAHNKKAVSRSAEQQPSEKSTEPKTKPQDMISAGGESVAGITAI
  SGKPGDKKKEKKSLTPAVPVESKPDKPSGKSGMDAALDDLIDTLGGPEETEEENTTYTGP
  EVSDPMSSTYIEELGKREVTIPPKYRELLAKKEGITGPPADSSKPIGPDDAIDALSSDFT
  CGSPTAAGKKTEKEESTEVLKAQSAGTVRSAAPPQEKKRKVEKDTMSDQALEALSASLGT
  RQAEPELDLRSIKEVDEAKAKEEKLEKCGEDDETIPSEYRLKPATDKDGKPLLPEPEEKP
  KPRSESELIDELSEDFDRSECKEKPSKPTEKTEESKAAAPAPVSEAVCRTSMCSIQSAPP
  EPATLKGTVPDDAVEALADSLGKKEADPEDGKPVMDKVKEKAKEEDREKLGEKEETIPPD
  YRLEEVKDKDGKPLLPKESKEQLPPMSEDFLLDALSEDFSGPQNASSLKFEDAKLAAAIS
  EVVSQTPASTTQAGAPPRDTSQSDKDLDDALDKLSDSLGQRQPDPDENKPMEDKVKEKAK
  AEHRDKLGERDDTIPPEYRHLLDDNGQDKPVKPPTKKSEDSKKPADDQDPIDALSGDLDS
  CPSTTETSQNTAKDKCKKAASSSKAPKNGGKAKDSAKTTEETSKPKDD

• Sequence length: 708

Pathways

KEGG Pathway	Reactome Pathway
Shigellosis	Degradation of the extracellular matrix
	Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CAST-related disorder	Likely pathogenic	rs1765909899, rs1399161903	RCV003410402 RCV003402962	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	Pathogenic	rs786205140, rs786204842, rs786205141	RCV000169750 RCV000169751 RCV000169752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (57)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEURYSM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	40962958	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	38182742, 40069456	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	40195560	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	22286212	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRITIS	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	16871587	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	17323976	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	36989840	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS	—	CTD, HPO CTD, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN, LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, KNUCKLE PADS SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEELING SKIN-LEUKONYCHIA-ACRAL PUNCTATE KERATOSES-CHEILITIS-KNUCKLE PADS SYNDROME	—	Orphanet	25683118	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEMPHIGUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	20953190, 25574825	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICCA SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGRENS SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32499647, 32541925, 34594039, 38374256, 39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	GWAS catalog	34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	34365571	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CAPNS1 3 shared pathwaysShigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, Degradation of the extracellular matrix Related via 3 shared pathways including Shigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models. CAPNS2 2 shared pathwaysDeregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, Degradation of the extracellular matrix Related via 2 shared pathways including Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, Degradation of the extracellular matrix. ERAP1 3 shared diseasesHodgkin lymphoma, Uveitis, Peeling skin syndrome with leukonychia and acral punctate keratoses 4 shared evidence sourcesGWAS catalog (Hodgkin lymphoma), GWAS catalog (Uveitis), Disgenet (Peeling skin syndrome with leukonychia and acral punctate keratoses), Disgenet (Psoriasis) Related via 3 shared diseases including Hodgkin lymphoma, Uveitis — evidence mostly GWAS catalog. CAPN1 3 shared pathwaysShigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, Degradation of the extracellular matrix Related via 3 shared pathways including Shigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models. CAPN2 3 shared pathwaysShigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, Degradation of the extracellular matrix Related via 3 shared pathways including Shigellosis, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CAPNS1	0	[]	3	["Shigellosis","Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Degradation of the extracellular matrix"]	0	[]
CAPNS2	0	[]	2	["Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Degradation of the extracellular matrix"]	0	[]
ERAP1	3	["Hodgkin lymphoma","Uveitis","Peeling skin syndrome with leukonychia and acral punctate keratoses"]	0	[]	4	["GWAS catalog (Hodgkin lymphoma)","GWAS catalog (Uveitis)","Disgenet (Peeling skin syndrome with leukonychia and acral punctate keratoses)","Disgenet (Psoriasis)"]
CAPN1	0	[]	3	["Shigellosis","Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Degradation of the extracellular matrix"]	0	[]
CAPN2	0	[]	3	["Shigellosis","Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Degradation of the extracellular matrix"]	0	[]

Diseases Linked via Similar Genes

Prostatic neoplasms Linked via 1 of 5 related genesCAPNS1 Pulmonary hypertension Linked via 1 of 5 related genesCAPNS1 Ankylosing spondylitis Linked via 1 of 5 related genesERAP1 Eczema Linked via 1 of 5 related genesERAP1 Behcet disease Linked via 1 of 5 related genesERAP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Prostatic neoplasms	1	["CAPNS1"]
Pulmonary hypertension	1	["CAPNS1"]
Ankylosing spondylitis	1	["ERAP1"]
Eczema	1	["ERAP1"]
Behcet disease	1	["ERAP1"]