1. Gene
  2. CAPN14 - calpain 14 Gene

CAPN14 - calpain 14 Gene

Homo sapiens
Gene ID: 440854 | Gene type: protein coding

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)

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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