1. Gene
  2. CMYA5 - cardiomyopathy associated 5 Gene

CMYA5 - cardiomyopathy associated 5 Gene

中文名称:心肌病相关 5

种属: Homo sapiens

同用名: SPRYD2; TRIM76; C5orf10

基因 ID: 202333 | 基因类型: protein coding

关于 CMYA5

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:79,689,836-79,800,222 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues.

功能概要

预测具有相同的蛋白质结合活性。预计在钙调神经磷酸酶-NFAT 信号级联的负调节上游或负调节内起作用;磷蛋白磷酸酶活性的负调节;和调节骨骼肌适应。位于胞质溶胶中;核斑点;和质膜。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade; negative regulation of phosphoprotein Phosphatase activity; and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CMYA5 基因产物(1)

mRNA Protein Name
NM_153610.5 NP_705838.3 cardiomyopathy-associated protein 5

CMYA5 蛋白结构

fn3

fn3: Fibronectin type III domain (3717 - 3795)

SPRY

SPRY: SPRY domain (3943 - 4059)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4069 a.a.
蛋白主名 其他名称

cardiomyopathy-associated protein 5

2310076E16Rik

关联疾病

疾病名称 别名
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Tibial Muscular Dystrophy

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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
Felis catus CMYA5 VGNC VGNC:61006
Rattus norvegicus CMYA5 RGD RGD:1582992
Mus musculus CMYA5 MGD MGI:1923719
Bos taurus CMYA5 VGNC VGNC:27491
Canis familiaris CMYA5 VGNC VGNC:39387
Macaca mulatta CMYA5 VGNC VGNC:71176