CAPN12 - calpain 12 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 147968

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

Peptidase_C2: Calpain family cysteine protease (45 - 340)

Calpain_III

Calpain_III: Calpain large subunit, domain III (354 - 526)

  • 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

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
Others CAPN12 NCBI