2. Gene
  3. CAPN8 - calpain 8 Gene

CAPN8 - calpain 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙蛋白酶 8

种属: Homo sapiens

同用名: nCL-2

基因 ID: 388743 | 基因类型: protein coding

关于 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.

功能概要

预测可实现钙依赖性半胱氨酸型内肽酶活性和相同的蛋白质结合活性。预计参与蛋白水解。预计在钙依赖性自身蛋白水解的上游或内部起作用。预测位于高尔基体。预计在细胞质中有活性。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

CAPN8 蛋白结构

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.
蛋白主名 其他名称

calpain-8

new calpain 2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01893 CAPN8 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22412 Capn8 Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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