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MYO9A Gene(Protein Coding)

Myosin IXA

GCID:
GC15M071822
GIFtS:
44
Genes Participants
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Aliases for MYO9A Gene

Aliases for MYO9A Gene

  • Myosin IXA 2 3 5
  • Unconventional Myosin-9a 3 4
  • Unconventional Myosin-IXa 3
  • Myosin-IXa 3
  • 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 Presynaptic Congenital Myasthenic Syndromes and Congenital Myasthenic Syndrome. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. 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 for MYO9A Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho activity in neurons, has a role in the regulation of neuronal morphology and function (By similarity).

Additional gene information for MYO9A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO9A Gene

Genomics for MYO9A Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MYO9A Gene

Promoters and enhancers for MYO9A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15J072116 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 676.4 +0.4 397 4 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 MYO9A SENP8 ENSG00000261187 CELF6 PARP6 RPL17P39 BBS4 ARIH1 TMEM202-AS1 ENSG00000260672
GH15J072225 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 74 -110.7 -110675 8 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PKM LOC105370887 ENSG00000261187 HEXA TMEM202-AS1 ARIH1 MYO9A ADPGK CELF6 RPL17P39
GH15J072781 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30 -666.1 -666101 5.6 CLOCK MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ADPGK ADPGK-AS1 ENSG00000261187 MYO9A BBS4 HEXA PARP6 LOC105370887 ARIH1 TMEM202
GH15J072374 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 28 -257.7 -257683 3.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 HEXA ENSG00000260729 HEXA-AS1 ENSG00000261187 MYO9A ARIH1 LOC105370887 TMEM202-AS1 TMEM202 BBS4
GH15J071249 Enhancer 1.3 Ensembl ENCODE dbSUPER 38 +867.1 867096 3.4 PKNOX1 ATF1 SIN3A FEZF1 BRCA1 ZNF121 ZNF766 ZNF213 ATF7 FOS MYO9A THSD4 LOC105370884 PIR59724
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYO9A on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MYO9A Gene

Genomic Locations for MYO9A Gene
chr15:71,822,289-72,118,577
(GRCh38/hg38)
Size:
296,289 bases
Orientation:
Minus strand
chr15:72,114,632-72,410,918
(GRCh37/hg19)
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14517.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    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

  • 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:
ProtoNet:

Suggested Antigen Peptide Sequences for MYO9A Gene

GenScript: Design optimal peptide antigens:

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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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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 activity in neurons, has a role in the regulation of neuronal morphology and function (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:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005096 GTPase activator activity TAS --
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

Animal Models for MYO9A Gene

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

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

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:0005622 intracellular 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

genes like me logo Genes that share pathways with MYO9A: view

Gene Ontology (GO) - Biological Process for MYO9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA --
GO:0007165 signal transduction IEA --
GO:0007601 visual perception TAS 10409426
GO:0034329 cell junction assembly IMP 22891260
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with MYO9A: view

No data available for SIGNOR curated interactions for MYO9A Gene

Drugs & Compounds for MYO9A Gene

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  1. Drug

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
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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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MYO9A Gene

(15) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(131) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYO9A Gene

Myosin IXA:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MYO9A Gene

GeneLoc Exon Structure for
MYO9A
ECgene alternative splicing isoforms for
MYO9A

Expression for MYO9A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

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



NURSA nuclear receptor signaling pathways regulating expression of MYO9A Gene:

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. Isoform 5 was found in leukocytes but not in brain, retina or testis.

Evidence on tissue expression from TISSUES for MYO9A Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with MYO9A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 33
  • 99.56 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYO9A 34 33
  • 91.88 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MYO9A 34
  • 91 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC515330 33
  • 90.33 (n)
MYO9A 34
  • 79 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Myo9a 16 34 33
  • 87.31 (n)
rat
(Rattus norvegicus)
 Mammalia Myo9a 33
  • 87.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia MYO9A 34
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MYO9A 34 33
  • 71.17 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MYO9A 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia myo9a 33
  • 63.22 (n)
zebrafish
(Danio rerio)
 Actinopterygii myo9aa 34 33
  • 63.96 (n)
 OneToMany
myo9ab 34
  • 59 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea hum-7 34 35
  • 37 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 36 (a)
 OneToMany
Species where no ortholog for MYO9A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 from dbSNP and Humsavar for MYO9A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000009859 -- 72,110,473(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000016133 -- 71,977,071(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000033502 -- 72,075,856(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000037268 -- 71,900,171(-) A/G intron_variant
rs1000063104 -- 72,111,504(-) AATAAATAAA/AATAAA genic_upstream_transcript_variant, intron_variant

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYO9A Gene

MalaCards: The human disease database

(4) MalaCards diseases for MYO9A Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
deafness, autosomal recessive 48
  • dfnb48
bardet-biedl syndrome
  • biedl-bardet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MYO9A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO9A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYO9A: view

No data available for UniProtKB/Swiss-Prot and 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 58
  2. 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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PMID: 8022818) Bement WM … Mooseker MS (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 58
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58

Products for MYO9A Gene