CAPN12 - calpain 12 Gene

Homo sapiens

Gene ID: 147968 | Gene type: protein coding

About CAPN12

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,730,192-38,744,693 (from NCBI)

This gene has 12 transcripts (splice variants), 110 orthologues and 20 paralogues. Ubiquitous expression in gall bladder (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues.

Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous Enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

CAPN12 Products(1)

mRNA	Protein	Name
NM_144691.4	NP_653292.2	calpain-12

CAPN12 Protein Structure

Peptidase_C2

Calpain_III

0
200
400
600
719 a.a.

Protein Preferred Names

Protein Names

calpain-12

CANP 12

Related Diseases

Diseases

Alias

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity	Retinal Hemorrhage With Vascular Tortuosity
RATOR	Tortuosity Of Retinal Arteries
Retinal Arteriolar Tortuosity	Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal

Temtamy Syndrome

TEMTYS	Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome	Dysmorphism, Corpus Callosum Agenesis And Colobomas
Temtamy-Shalash Syndrome	Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01886	CAPN12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CAPN12	VGNC	VGNC:103643
Macaca mulatta	CAPN12	VGNC	VGNC:70473
Bos taurus	CAPN12	VGNC	VGNC:26743
Rattus norvegicus	CAPN12	RGD	RGD:1307341
Felis catus	CAPN12	VGNC	VGNC:82319
Mus musculus	CAPN12	MGD	MGI:1891369

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