1. Gene
  2. CAPN9 - calpain 9 Gene

CAPN9 - calpain 9 Gene

中文名称:钙蛋白酶 9

种属: Homo sapiens

同用名: GC36; nCL-4

基因 ID: 10753 | 基因类型: protein coding

关于 CAPN9

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:230,747,388-230,801,989 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues and 20 paralogues. Biased expression in stomach (RPKM 15.1), colon (RPKM 3.9) and 3 other tissues.

功能概要

钙蛋白酶是普遍存在的、保守的钙依赖性半胱氨酸蛋白酶家族。钙蛋白酶是由不变的小亚基和可变的大亚基组成的异二聚体。大亚基具有半胱氨酸蛋白酶结构域,两个亚基都具有钙结合结构域。钙蛋白酶与神经退行性过程有关,因为它们的激活可以由钙流入和氧化应激触发。由该基因编码的蛋白质主要在胃和小肠中表达,并可能在消化道中具有特殊功能。该基因被认为与胃癌有关。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

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 expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric Cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CAPN9 基因产物(3)

mRNA Protein Name
NM_001319676.2 NP_001306605.1 calpain-9 isoform 3
NM_006615.3 NP_006606.1 calpain-9 isoform 1
NM_016452.3 NP_057536.1 calpain-9 isoform 2

CAPN9 蛋白结构

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (42 - 337)

Calpain_III

Calpain_III: Calpain large subunit, domain III (348 - 491)

EF-hand_6

EF-hand_6: EF-hand domain (597 - 622)

  • 0
  • 200
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  • 600
  • 690 a.a.
蛋白主名 其他名称

calpain-9

digestive tract-specific calpain

关联疾病

疾病名称 别名
Noonan Syndrome 4

NS4

Noonan Syndrome, Type 4

D-Glyceric Aciduria

D-Glyceric Acidemia

D-Glycericacidemia

Glycerate Kinase Deficiency

D-Glycerate Kinase Deficiency

Non Ketotic Hyperglycinemia Syndrome

Deficiency Of Glycerate Kinase

Hyperglycinemia, Non-Ketotic

D-GA

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Inflammatory Bowel Disease 15

IBD15

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CAPN9 RGD RGD:70965
Mus musculus CAPN9 MGD MGI:1920897
Macaca mulatta CAPN9 VGNC VGNC:70537
Felis catus CAPN9 VGNC VGNC:60358
Canis familiaris CAPN9 VGNC VGNC:38708