CAPN14 - calpain 14 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 440854

About CAPN14

Cytogenetic location: 2p23.1 Genomic coordinates (GRCh38): 2:31,173,056-31,233,957 (from NCBI)

This gene has 2 transcripts (splice variants), 301 orthologues and 20 paralogues. Restricted expression toward esophagus (RPKM 73.0).

Summary

Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including Apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]

CAPN14 Products (2)

mRNA Protein Name
NM_001145122.2 NP_001138594.1 calpain-14 isoform 1
NM_001321270.2 NP_001308199.1 calpain-14 isoform 2

CAPN14 Protein Structure

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (43 - 336)

Calpain_III

Calpain_III: Calpain large subunit, domain III (347 - 496)

  • 0
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  • 684 a.a.
Protein Preferred Names Protein Names

calpain-14

  • CANP 14

Related Diseases

Diseases Alias
Esophagitis
  • Acute Esophagitis

Eosinophilic Gastritis
  • Eosinophilic Enteropathy

Esophagitis, Eosinophilic, 1
  • Eosinophilic Esophagitis

  • EOE1

  • Esophagitis, Eosinophilic

  • Ee

Esophageal Candidiasis
  • Candidiasis Of The Esophagus

  • Candida Esophagitis

  • Candidal Esophagitis

  • Esophageal Moniliasis

  • Esophageal Thrush

Loeys-Dietz Syndrome 2
  • LDS2

  • Aat3

  • Marfan Syndrome Type 2

  • Aortic Aneurysm, Familial Thoracic 3

  • Marfan Syndrome Type Ii

  • Loeys-Dietz Syndrome Type 2

  • Mfs2

  • Marfan Syndrome, Type Ii, Formerly

  • Familial Throacic Aortic Aneurysm 3

  • Familial Aortic Aneurysm Thoracic Type 3

  • Taad2

  • Thoracic Aortic Aneurysms And Dissection 2

  • Aneurysm, Aortic, Thoracic, Familial, Type 3

  • Loeys-Dietz Syndrome, Type 2

Dyskinesia Of Esophagus
  • Esophageal Motility Disorders

  • Dyskinesia Of Oesophagus

  • Esophageal Dysmotility

  • Esophageal Motility Disorder

  • Oesophageal Dysmotility

  • Oesophageal Motor Disorder

  • Esophageal Spasm

Hypermobility Syndrome
  • Benign Joint Hypermobility

Pinguecula
Conjunctival Degeneration
Loeys-Dietz Syndrome
  • Loeys-Dietz Aortic Aneurysm Syndrome

  • Lds

  • Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

  • Furlong Syndrome

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