2. Gene
  3. MYO9A - myosin IXA Gene

MYO9A - myosin IXA Gene

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

中文名称：肌球蛋白 IXA

种属: Homo sapiens

同用名: CMS24

基因 ID: 4649 | 基因类型: protein coding

关于 MYO9A

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:71,822,291-72,118,600 (from NCBI)

This gene has 21 transcripts (splice variants), 287 orthologues, 43 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 12.9), thyroid (RPKM 5.9) and 24 other tissues.

功能概要

该基因编码肌球蛋白超家族的一个成员。该蛋白质代表一种非常规的肌球蛋白；它不应与传统的非肌肉肌球蛋白 9 (MYH9) 混淆。非常规肌球蛋白包含常规肌球蛋白的基本结构域，并通过其尾部结构域进一步区别于类成员。它们充当基于肌动蛋白的分子马达。该基因的突变与 Bardet-Biedl 综合症有关。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the Myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]

MYO9A 基因产物(1)

mRNA Protein Name
NM_006901.4 NP_008832.2 unconventional myosin-IXa
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15644318 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell junction assembly IMP
IMP: 通过突变表型推断
22891260 GOA
involved in establishment of epithelial cell apical/basal polarity IMP
IMP: 通过突变表型推断
22891260 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MYO9A 蛋白结构

RA

RA: Ras association (RalGDS/AF-6) domain (15 - 111)

Myosin_head

Myosin_head: Myosin head (motor domain) (149 - 692)

Myosin_head

Myosin_head: Myosin head (motor domain) (882 - 1004)

IQ

IQ: IQ calmodulin-binding motif (1043 - 1062)

IQ

IQ: IQ calmodulin-binding motif (1076 - 1094)

IQ

IQ: IQ calmodulin-binding motif (1116 - 1136)

IQ

IQ: IQ calmodulin-binding motif (1139 - 1159)

RhoGAP

RhoGAP: RhoGAP domain (2076 - 2223)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2400
  • 2548 a.a.
蛋白主名 其他名称

unconventional myosin-IXa

myosin-IXa

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 24, Presynaptic

CMS24
Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Myopathy, Myofibrillar, 8

Myofibrillar Myopathy 8

MFM8

Myopathy, Myofibrillar, Type 8
Myopathy, Centronuclear, 4

CNM4

Centronuclear Myopathy 4

Congenital Myopathy With Internal Nuclei And Atypical Cores

Centronuclear Myopathy Type 4

Myopathy, Centronuclear, Type 4
Bardet-Biedl Syndrome 7

BBS7

Bardet-Biedl Syndrome, Type 7
Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5
Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A

Hmn Viia

Dhmn7a

Neuropathy, Distal Hereditary Motor, Type Viia

Dhmnvp

Harper-Young Myopathy

Distal Hereditary Motor Neuronopathy Type 7a

Distal Hereditary Motor Neuropathy Type Viia

Neuronopathy, Distal Hereditary Motor, Type 7a

Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a

Harper-Young Myopath

Neuronopathy, Distal Hereditary Motor, 7a

Distal Hereditary Motor Neuronopathy Type Viia

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuropathy, Motor, Distal, Hereditary, Type Viia
Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7

MFM7

Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

Myopathy, Myofibrillar, Type 7
Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14

CMS14

Cmsta3

Myasthenic Syndrome, Congenital, With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates

Congenital Myasthenic Syndrome 14, With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3

Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10

Autosomal Recessive Spinocerebellar Ataxia 10

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia, Autosomal Recessive, 10

Ataxia, Spinocerebellar, Autosomal Recessive, Type 10
Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome

17q23.1-Q23.2 Microdeletion Syndrome

Del(17)(Q23.1q23.2)

Monosomy 17q23.1q23.2

Monosomy 17q23.1-Q23.2
Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia

CMS6

Cmsea

Congenital Myasthenic Syndrome 6

Familial Infantile Myasthenia Gravis 2

Fimg2

Myasthenic Syndrome, Congenital, Associated With Episodic Apnea

Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type Ia2, Formerly

Cms1a2, Formerly

Cms Ia2, Formerly

Myasthenia, Familial Infantile, Formerly

Fim, Formerly

Myasthenia Gravis, Familial Infantile, 2, Formerly

Fimg2, Formerly

Cms Ia2

Cms1a2

Congenital Myasthenic Syndrome 6, Presynaptic

Congenital Myasthenic Syndrome Type Ia2

Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea

Fim

Cms1a

Cms-Ea

Cms Ia

Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea

Congenital Myasthenic Syndrome Type 1a

Congenital Myasthenic Syndrome Type Ia

Myasthenic Syndrome, Congenital, Type 6, Presynaptic
Neuromuscular Junction Disease

Neuromuscular Junction Diseases
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08952 MYO9A Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MYO9A RGD RGD:621395
Mus musculus MYO9A MGD MGI:107735
Canis familiaris MYO9A VGNC VGNC:43574
Felis catus MYO9A VGNC VGNC:68401
Bos taurus MYO9A VGNC VGNC:97290
Macaca mulatta MYO9A VGNC VGNC:75120
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