MYO9A - myosin IXA Gene

Also Known as CMS24

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4649

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_006901.4 NP_008832.2 unconventional myosin-IXa
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15644318 GOA
Biological Process GO Annotation Evidence References Source
involved in cell junction assembly IMP
IMP: Inferred from mutant phenotype
22891260 GOA
involved in establishment of epithelial cell apical/basal polarity IMP
IMP: Inferred from mutant phenotype
22891260 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO9A Protein Structure

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.
Protein Preferred Names Protein Names

unconventional myosin-IXa

  • myosin-IXa

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others MYO9A NCBI