CAPN14 - calpain 14 Gene

中文名称：钙蛋白酶 14

种属: Homo sapiens

基因 ID: 440854 | 基因类型: protein coding

关于 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).

功能概要

钙蛋白酶是细胞溶质钙激活的半胱氨酸蛋白酶家族，参与多种细胞过程，包括细胞凋亡、细胞分裂、整合素-细胞骨架相互作用的调节和突触可塑性 (Dear 等人，2000 [PubMed 10964513]) 。 CAPN14 属于钙蛋白酶大亚基家族。[OMIM 提供，2008 年 3 月]

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 基因产物(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 蛋白结构

Peptidase_C2

Calpain_III

0
200
400
600
684 a.a.

蛋白主名

其他名称

calpain-14

CANP 14

关联疾病

疾病名称

别名

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

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CAPN14 - calpain 14 Gene

关于 CAPN14

功能概要

CAPN14 基因产物(2)

CAPN14 蛋白结构

关联疾病

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CAPN14 - calpain 14 Gene

关于 CAPN14

功能概要

CAPN14 基因产物(2)

CAPN14 蛋白结构

关联疾病

相关产品

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z