1. Gene
  2. ANKRD2 - ankyrin repeat domain 2 Gene

ANKRD2 - ankyrin repeat domain 2 Gene

中文名称:锚蛋白重复结构域 2

种属: Homo sapiens

同用名: ARPP

基因 ID: 26287 | 基因类型: protein coding

关于 ANKRD2

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,572,441-97,583,884 (from NCBI)

This gene has 4 transcripts (splice variants), 173 orthologues and 1 paralogue. Biased expression in heart (RPKM 16.8), kidney (RPKM 3.2) and 1 other tissue.

功能概要

该基因编码一种属于肌肉锚蛋白重复蛋白 (MARP) 家族的蛋白质。啮齿类动物中的一个类似基因是肌肉应激反应通路的一个组成部分,并在与缓慢肌肉功能相关的拉伸反应中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 3 月]

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

ANKRD2 基因产物(5)

mRNA Protein Name
NM_001129981.3 NP_001123453.1 ankyrin repeat domain-containing protein 2 isoform b
NM_001291218.2 NP_001278147.1 ankyrin repeat domain-containing protein 2 isoform c
NM_001291219.3 NP_001278148.2 ankyrin repeat domain-containing protein 2 isoform f
NM_001346793.2 NP_001333722.1 ankyrin repeat domain-containing protein 2 isoform e
NM_020349.4 NP_065082.2 ankyrin repeat domain-containing protein 2 isoform a

ANKRD2 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (154 - 244)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (248 - 309)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
蛋白主名 其他名称

ankyrin repeat domain-containing protein 2

ankyrin repeat domain 2 (stretch responsive muscle)

ANKRD2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ANKRD2 Q9GZV1 MAPK6 Homo sapiens Q16659 32296183
种属内
ANKRD2 Q9GZV1 MAPK6 Homo sapiens Q16659 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

HMN8

Dhmn8

Neuropathy, Distal Hereditary Motor, Type Viii

Distal Hereditary Motor Neuronopathy Type 8

Autosomal Dominant Benign Distal Spinal Muscular Atrophy

Congenital Benign Spinal Muscular Atrophy With Contractures

Congenital Nonprogressive Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive

Spinal Muscular Atrophy, Congenital Benign, With Contractures

Distal Hereditary Motor Neuropathy Type Viii

Neuronopathy, Distal Hereditary Motor, 8

Distal Spinal Muscular Atrophy, Congenital Non-Progressive

Spinal Muscular Atrophy Congenital Benign With Contractures

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

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

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Acute Basophilic Leukemia
Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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
Macaca mulatta ANKRD2 VGNC VGNC:69815
Rattus norvegicus ANKRD2 RGD RGD:1305104
Bos taurus ANKRD2 VGNC VGNC:25915
Mus musculus ANKRD2 MGD MGI:1861447
Felis catus ANKRD2 VGNC VGNC:97351
Canis familiaris ANKRD2 VGNC VGNC:37889