MYO9A Gene (Protein Coding)

Myosin IXA

GC15M071822
GIFtS:
39
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... See more...

Aliases for MYO9A Gene

Aliases for MYO9A Gene

  • Myosin IXA 2 3 5
  • Unconventional Myosin-IXa 3 4
  • Unconventional Myosin-9a 3 4
  • Myosin-IXa 3
  • FLJ11061 2
  • FLJ13244 2
  • MGC71859 2
  • CMS24 3
  • MYO9A 5
  • MYR7 4

External Ids for MYO9A Gene

Previous GeneCards Identifiers for MYO9A Gene

  • GC15M067913
  • GC15M065216
  • GC15M069694
  • GC15M069834
  • GC15M069905
  • GC15M072114
  • GC15M048948

Summaries for MYO9A Gene

Entrez Gene Summary for MYO9A Gene

  • 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]

GeneCards Summary for MYO9A Gene

MYO9A (Myosin IXA) is a Protein Coding gene. Diseases associated with MYO9A include Myasthenic Syndrome, Congenital, 24, Presynaptic and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO9B.

UniProtKB/Swiss-Prot Summary for MYO9A Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (By similarity).

Additional gene information for MYO9A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO9A Gene

Genomics for MYO9A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYO9A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO9A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO9A

Top Transcription factor binding sites by QIAGEN in the MYO9A gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • HNF-1
  • HNF-1A
  • MRF-2
  • Sp1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MYO9A Gene

Latest Assembly
chr15:71,822,291-72,118,577
(GRCh38/hg38)
Size:
296,287 bases
Orientation:
Minus strand

Previous Assembly
chr15:72,114,632-72,410,491
(GRCh37/hg19 by Entrez Gene)
Size:
295,860 bases
Orientation:
Minus strand

chr15:72,114,632-72,410,918
(GRCh37/hg19 by Ensembl)
Size:
296,287 bases
Orientation:
Minus strand

Genomic View for MYO9A Gene

Genes around MYO9A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO9A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO9A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYO9A Gene

Proteins for MYO9A Gene

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  • Protein details for MYO9A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RTY4-MYO9A_HUMAN
    Recommended name:
    Unconventional myosin-IXa
    Protein Accession:
    B2RTY4
    Secondary Accessions:
    • B0I1T5
    • C9IYB3
    • C9JA86
    • Q14787
    • Q3YLD7
    • Q3YLD8
    • Q6P986
    • Q9H8T5
    • Q9NTG2
    • Q9NUY2
    • Q9UEP3
    • Q9UNJ2

    Protein attributes for MYO9A Gene

    Size:
    2548 amino acids
    Molecular mass:
    292706 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91979.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14517.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: Lacks the ATP-binding domain which suggests that it cannot interact with actin.

    Alternative splice isoforms for MYO9A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO9A Gene

Protein Expression for MYO9A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYO9A Gene

  • Phosphorylated by ALPK1 following monosodium urate monohydrate (MSU)-induced inflammation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO9A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYO9A Gene

Domains & Families for MYO9A Gene

Gene Families for MYO9A Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYO9A Gene

InterPro:

Suggested Antigen Peptide Sequences for MYO9A Gene

GenScript: Design optimal peptide antigens:
  • Unconventional myosin-9a (MYO9A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B2RTY4

UniProtKB/Swiss-Prot:

MYO9A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO9A: view

Function for MYO9A Gene

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  6. Cell Lines for research

Molecular function for MYO9A Gene

UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho by stimulating it's GTPase activity in neurons. Required for the regulation of neurite branching and motor neuron axon guidance (By similarity).
GENATLAS Biochemistry:
unconventional myosin IXA,widely expressed,located in the BBS4 region

Phenotypes From GWAS Catalog for MYO9A Gene

Gene Ontology (GO) - Molecular Function for MYO9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 15644318
genes like me logo Genes that share ontologies with MYO9A: view
genes like me logo Genes that share phenotypes with MYO9A: view

Human Phenotype Ontology for MYO9A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO9A Gene

MGI Knock Outs for MYO9A:
  • Myo9a Myo9a<tm1.2Bah>
  • Myo9a Myo9a<tm1b(EUCOMM)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO9A

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO9A Gene

Localization for MYO9A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO9A Gene

Membrane. Single-pass membrane protein. Cytoplasm. Cell junction, synapse. Cell projection, growth cone. Note=Localized in the cytoplasm of cell bodies, dendrites and axons with occasional hints of an enrichment near the plasma membrane. Localized at the neuromuscular junction (By similarity). {ECO:0000250 UniProtKB:Q8C170, ECO:0000250 UniProtKB:Q9Z1N3}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO9A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016459 myosin complex IEA --
genes like me logo Genes that share ontologies with MYO9A: view

Pathways & Interactions for MYO9A Gene

PathCards logo

SuperPathways for MYO9A Gene

SuperPathway Contained pathways
1 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
2 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
3 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
4 Sweet Taste Signaling
Cellular Effects of Sildenafil
.46
5 Sertoli-Sertoli Cell Junction Dynamics
Epithelial Tight Junctions
.36
genes like me logo Genes that share pathways with MYO9A: view

Pathways by source for MYO9A Gene

11 Qiagen pathways for MYO9A Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

SIGNOR curated interactions for MYO9A Gene

Inactivates:

Gene Ontology (GO) - Biological Process for MYO9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007601 visual perception TAS 10409426
GO:0034329 cell junction assembly IMP 22891260
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with MYO9A: view

Drugs & Compounds for MYO9A Gene

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(4) Additional Compounds for MYO9A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
 257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
 91125-76-7, 29541-66-0, 51621-26-2
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with MYO9A: view

Transcripts for MYO9A Gene

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mRNA/cDNA for MYO9A Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO9A

Alternative Splicing Database (ASD) splice patterns (SP) for MYO9A Gene

No ASD Table

Relevant External Links for MYO9A Gene

GeneLoc Exon Structure for
MYO9A

Expression for MYO9A Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO9A Gene

mRNA expression in normal human tissues for MYO9A Gene
mRNA expression by GTEx for MYO9A GenemRNA expression by BioGPS for MYO9A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for MYO9A Gene

This gene is overexpressed in Fetal Liver (49.5) and Testis (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO9A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO9A

SOURCE GeneReport for Unigene cluster for MYO9A Gene:

Hs.546268

mRNA Expression by UniProt/SwissProt for MYO9A Gene:

B2RTY4-MYO9A_HUMAN
Tissue specificity: Found to be expressed in testis and placenta and at lower levels in all the examined tissues with the exception of liver (PubMed:10409426). Isoform 5: Found in leukocytes but not in brain, retina or testis (PubMed:10409426).

Evidence on tissue expression from TISSUES for MYO9A Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Kidney(2.3)
  • Muscle(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with MYO9A: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO9A Gene

Orthologs for MYO9A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO9A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MYO9A 29 30
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYO9A 29 30
  • 91.88 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYO9A 30
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LOC515330 29
  • 90.33 (n)
MYO9A 30
  • 79 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Myo9a 29 16 30
  • 87.31 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Myo9a 29
  • 87.06 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MYO9A 30
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYO9A 29 30
  • 71.17 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYO9A 30
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myo9a 29
  • 63.22 (n)
Zebrafish
(Danio rerio)
 Actinopterygii myo9aa 29 30
  • 63.96 (n)
 OneToMany
myo9ab 30
  • 59 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea hum-7 30 31
  • 37 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 36 (a)
 OneToMany
Species where no ortholog for MYO9A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYO9A Gene

ENSEMBL:
Gene Tree for MYO9A (if available)
TreeFam:
Gene Tree for MYO9A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO9A: view image
Alliance of Genome Resources:
Additional Orthologs for MYO9A

Paralogs for MYO9A Gene

Paralogs for MYO9A Gene

(29) SIMAP similar genes for MYO9A Gene using alignment to 9 proteins:

  • MYO9A_HUMAN
  • H3BMM1_HUMAN
  • H3BMS3_HUMAN
  • H3BP49_HUMAN
  • H3BRD5_HUMAN
  • H3BSU8_HUMAN
  • H3BTL9_HUMAN
  • H3BU05_HUMAN
  • H3BV44_HUMAN
genes like me logo Genes that share paralogs with MYO9A: view

Variants for MYO9A Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO9A Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1031100 Uncertain Significance: Myasthenic syndrome, congenital, 24, presynaptic 71,994,483(-) C/T
NM_006901.4(MYO9A):c.1573G>A (p.Glu525Lys) 		MISSENSE
1031101 Uncertain Significance: Myasthenic syndrome, congenital, 24, presynaptic 71,901,270(-) A/G
NM_006901.4(MYO9A):c.3071T>C (p.Ile1024Thr) 		MISSENSE
1031102 Uncertain Significance: Myasthenic syndrome, congenital, 24, presynaptic 71,893,711(-) G/A
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) 		MISSENSE
1031103 Uncertain Significance: Myasthenic syndrome, congenital, 24, presynaptic 71,883,642(-) G/A
NM_006901.4(MYO9A):c.5350C>T (p.Pro1784Ser) 		MISSENSE
1031104 Uncertain Significance: Myasthenic syndrome, congenital, 24, presynaptic 71,878,164(-) G/A
NM_006901.4(MYO9A):c.5807C>T (p.Thr1936Met) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO9A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYO9A Gene

Variant ID Type Subtype PubMed ID
dgv1238n106 CNV deletion 24896259
dgv4608n54 CNV loss 21841781
dgv4609n54 CNV loss 21841781
dgv4610n54 CNV loss 21841781
dgv4611n54 CNV loss 21841781
dgv4612n54 CNV gain 21841781
dgv4613n54 CNV gain 21841781
dgv4614n54 CNV gain 21841781
dgv4615n54 CNV loss 21841781
dgv4616n54 CNV loss 21841781
dgv4617n54 CNV loss 21841781
esv2331045 CNV deletion 18987734
esv2531029 CNV deletion 19546169
esv2656527 CNV deletion 23128226
esv2672608 CNV deletion 23128226
esv2749858 CNV deletion 23290073
esv2749859 CNV deletion 23290073
esv2749860 CNV deletion 23290073
esv2749861 CNV deletion 23290073
esv2749862 CNV deletion 23290073
esv28860 CNV gain 19812545
esv3552663 CNV deletion 23714750
esv3636866 CNV loss 21293372
esv3636868 CNV loss 21293372
esv3636869 CNV loss 21293372
esv3892712 CNV loss 25118596
nsv1036938 CNV gain 25217958
nsv1069607 CNV deletion 25765185
nsv1111118 CNV tandem duplication 24896259
nsv1113724 CNV deletion 24896259
nsv457195 CNV loss 19166990
nsv457199 CNV loss 19166990
nsv457200 CNV loss 19166990
nsv457201 CNV loss 19166990
nsv510405 OTHER sequence alteration 20534489
nsv510665 CNV deletion 20534489
nsv511557 CNV loss 21212237
nsv512406 CNV loss 21212237
nsv516871 CNV gain+loss 19592680
nsv569906 CNV loss 21841781
nsv569909 CNV loss 21841781
nsv569917 CNV loss 21841781
nsv569918 CNV gain 21841781
nsv569919 CNV gain 21841781
nsv569924 CNV loss 21841781
nsv569925 CNV loss 21841781
nsv569926 CNV gain 21841781
nsv569928 CNV gain+loss 21841781
nsv569929 CNV gain 21841781
nsv569933 CNV loss 21841781
nsv821198 CNV deletion 20802225
nsv833051 CNV gain 17160897
nsv958807 CNV deletion 24416366
nsv984089 CNV duplication 23825009

Variation tolerance for MYO9A Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO9A Gene

Human Gene Mutation Database (HGMD)
MYO9A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO9A
Leiden Open Variation Database (LOVD)
MYO9A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO9A Gene

Disorders for MYO9A Gene

MalaCards: The human disease database

(13) MalaCards diseases for MYO9A Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 24, presynaptic
  • cms24
presynaptic congenital myasthenic syndromes
  • presynaptic congenital myasthenic syndrome
congenital myasthenic syndrome
  • congenital myasthenic syndromes
bardet-biedl syndrome
  • bbs
myopathy, myofibrillar, 8
  • mfm8
- elite association - COSMIC cancer census association via MalaCards
Search MYO9A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO9A_HUMAN
  • Myasthenic syndrome, congenital, 24, presynaptic (CMS24) [MIM:618198]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive. {ECO:0000269 PubMed:26752647, ECO:0000269 PubMed:27259756, ECO:0000269 PubMed:30237576}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for MYO9A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYO9A: view

No data available for Genatlas for MYO9A Gene

Publications for MYO9A Gene

  1. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. (PMID: 10409426) Gorman SW … Duhl DM (Genomics 1999) 2 3 4 22
  2. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. (PMID: 27259756) O'Connor E … Lochmüller H (Brain : a journal of neurology 2016) 3 4 72
  3. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. (PMID: 26752647) Bayram Y … Lupski JR (The Journal of clinical investigation 2016) 4 72
  4. Non-EST based prediction of exon skipping and intron retention events using Pfam information. (PMID: 16204458) Hiller M … Backofen R (Nucleic acids research 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

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