CAPN8 - calpain 8 Gene

Also Known as nCL-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 388743

About CAPN8

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:223,541,616-223,665,701 (from NCBI)

This gene has 9 transcripts (splice variants), 147 orthologues and 20 paralogues. Biased expression in stomach (RPKM 65.0), lung (RPKM 7.1) and 2 other tissues.

Summary

Predicted to enable calcium-dependent cysteine-type endopeptidase activity and identical protein binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within calcium-dependent self proteolysis. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

CAPN8 Products (1)

mRNA Protein Name
NM_001143962.2 NP_001137434.1 calpain-8

CAPN8 Protein Structure

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (45 - 342)

Calpain_III

Calpain_III: Calpain large subunit, domain III (354 - 437)

EF-hand_8

EF-hand_8: EF-hand domain pair (556 - 583)

  • 0
  • 200
  • 400
  • 600
  • 681 a.a.
Protein Preferred Names Protein Names

calpain-8

  • new calpain 2

Related Diseases

Diseases Alias
Ceroid Lipofuscinosis, Neuronal, 2
  • Jansky-Bielschowsky Disease

  • Neuronal Ceroid Lipofuscinosis 2

  • CLN2

  • Lincl

  • Cln2 Disease

  • Late-Infantile Neuronal Ceroid Lipofuscinosis

  • Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset

  • Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset

  • Cln2 Disease, Juvenile

  • Cln2 Disease, Late Infantile

  • Late-Infantile Batten Disease

  • Neuronal Ceroid Lipofuscinosis, Late-Infantile

  • Classic Late Infantile Ncl

  • Classic Late Infantile Neuronal Ceroid Lipofuscinosis

  • Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset

  • Lipofuscinosis, Ceroid, Neuronal, Type 2

  • Late-Infantile Neuronal Ceroid Lipfuscinosis

Partial Optic Atrophy
Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Cholesterol Ester Storage Disease
Methylmalonic Aciduria And Homocystinuria, Cblc Type
  • MAHCC

  • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

  • Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

  • Methylmalonic Aciduria And Homocystinuria Type Cblc

  • Cobalamin C Disease

  • Methylmalonic Acidemia With Homocystinuria Cblc

  • Methylmalonic Acidemia And Homocystinuria, Cblc Type

  • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

  • Cobalamin C Deficiency

  • Methylmalonic Acidemia With Homocystinuria, Type Cblc

  • Cblc Defect

  • Cobalamin C Defect

  • Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

  • Methylmalonic Aciduria With Homocystinuria, Type Cblc

  • Methylmalonic Acidemia And Homocystinuria Cblc Type

  • Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

  • Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

  • Methylmalonic Acidemia With Homocystinuria

Myoclonic Epilepsy Associated With Ragged-Red Fibers
  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers

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 CAPN8 VGNC VGNC:54927
Bos taurus CAPN8 VGNC VGNC:50012
Macaca mulatta CAPN8 VGNC VGNC:99861
Mus musculus CAPN8 MGD MGI:2181366
Rattus norvegicus CAPN8 RGD RGD:620085
Others CAPN8 NCBI