1. Gene
  2. CAPN6 - calpain 6 Gene

CAPN6 - calpain 6 Gene

Homo sapiens

Also known as CANPX; CAPNX; CalpM; DJ914P14.1

Gene ID: 827 | Gene type: protein coding

About CAPN6

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:111,245,099-111,270,483 (from NCBI)

This gene has 1 transcript (splice variant), 212 orthologues and 20 paralogues. Biased expression in placenta (RPKM 59.5), endometrium (RPKM 13.7) and 5 other tissues.

Summary

Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of Other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting Apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]

CAPN6 Products(1)

mRNA Protein Name
NM_014289.4 NP_055104.2 calpain-6
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17210638 GOA
located in spindle microtubule IDA
IDA: Inferred from direct assay
17210638 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAPN6 Protein Structure

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (26 - 341)

Calpain_III

Calpain_III: Calpain large subunit, domain III (358 - 494)

C2

C2: C2 domain (519 - 597)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 641 a.a.
Protein Preferred Names Protein Names

calpain-6

calpain-like protease X-linked

CAPN6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CAPN6 Q9Y6Q1 ZBTB14 Homo sapiens O43829
Y2H Prey Pooling
32296183
Intra
CAPN6 Q9Y6Q1 ZBTB14 Homo sapiens O43829
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Leiomyosarcoma

Leiomyosarcomas

Leiomyoma

Leiomyomatous Neoplasm

Leiomyomatous Tumor

Leiomyomas

Fibroid Tumor

Uterine Fibroids

Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy

XECD

Endothelial Corneal Dystrophy, X-Linked

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Deafness, X-Linked 1

DFNX1

Dfn2

Deafness, X-Linked 2, Sensorineural Congenital

X-Linked Deafness 1

X-Linked Sensorineural Congenital Deafness 2

Deafness, X-Linked, 1

Congenital Sensorineural Deafness X-Linked 2

Deafness, X-Linked, Type 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy

Lgmd2a

Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2a

Pelvofemoral Muscular Dystrophy

Primary Calpainopathy

Chondroblastic Osteosarcoma

Chondrosarcomatous Osteogenic Sarcoma

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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
Bos taurus CAPN6 VGNC VGNC:26749
Mus musculus CAPN6 MGD MGI:1100850
Macaca mulatta CAPN6 VGNC VGNC:70535
Rattus norvegicus CAPN6 RGD RGD:70960
Canis familiaris CAPN6 VGNC VGNC:38706
Felis catus CAPN6 VGNC VGNC:60356