MYO9A (myosin IXA)

Gene

• Entrez ID: 4649
• Gene name: Myosin IXA
• Gene symbol: MYO9A
• Synonyms (NCBI Gene): CMS24
• Chromosome: 15
• Chromosome location: 15q23
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74022458	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200246273	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs374155761	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1567176190	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021993	hsa-miR-128-3p	Sequencing	20371350
MIRT027352	hsa-miR-101-3p	Sequencing	20371350
MIRT028717	hsa-miR-27a-3p	Sequencing	20371350
MIRT030828	hsa-miR-21-5p	Microarray	18591254
MIRT052604	hsa-let-7a-5p	CLASH	23622248
MIRT051864	hsa-let-7c-5p	CLASH	23622248
MIRT040450	hsa-miR-615-3p	CLASH	23622248
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170158	hsa-miR-3664-3p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170160	hsa-miR-4436a	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170163	hsa-miR-4712-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT1170157	hsa-miR-105	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT1170161	hsa-miR-4659a-3p	CLIP-seq
MIRT1170162	hsa-miR-4659b-3p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq
MIRT2278105	hsa-miR-1184	CLIP-seq
MIRT2278106	hsa-miR-1205	CLIP-seq
MIRT2278107	hsa-miR-1207-3p	CLIP-seq
MIRT2278108	hsa-miR-124	CLIP-seq
MIRT2278109	hsa-miR-1286	CLIP-seq
MIRT2576534	hsa-miR-1827	CLIP-seq
MIRT2278110	hsa-miR-214	CLIP-seq
MIRT2576535	hsa-miR-216a	CLIP-seq
MIRT1551555	hsa-miR-2355-5p	CLIP-seq
MIRT2278111	hsa-miR-3065-3p	CLIP-seq
MIRT2576536	hsa-miR-3119	CLIP-seq
MIRT2576537	hsa-miR-3149	CLIP-seq
MIRT2278112	hsa-miR-3158-5p	CLIP-seq
MIRT2278113	hsa-miR-3160-5p	CLIP-seq
MIRT2278114	hsa-miR-3619-5p	CLIP-seq
MIRT1170159	hsa-miR-3671	CLIP-seq
MIRT2278115	hsa-miR-4291	CLIP-seq
MIRT2685686	hsa-miR-4323	CLIP-seq
MIRT2278116	hsa-miR-4459	CLIP-seq
MIRT2278117	hsa-miR-4530	CLIP-seq
MIRT2576538	hsa-miR-4662a-5p	CLIP-seq
MIRT2278118	hsa-miR-4690-5p	CLIP-seq
MIRT2278119	hsa-miR-4695-5p	CLIP-seq
MIRT2278120	hsa-miR-4722-5p	CLIP-seq
MIRT2278121	hsa-miR-506	CLIP-seq
MIRT2278122	hsa-miR-544	CLIP-seq
MIRT2576539	hsa-miR-548c-3p	CLIP-seq
MIRT2576540	hsa-miR-568	CLIP-seq
MIRT2576541	hsa-miR-583	CLIP-seq
MIRT2576542	hsa-miR-605	CLIP-seq
MIRT1170164	hsa-miR-607	CLIP-seq
MIRT2278123	hsa-miR-761	CLIP-seq
MIRT2278124	hsa-miR-767-5p	CLIP-seq
MIRT2576543	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	15644318
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007601	Process	Visual perception	TAS	10409426
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016461	Component	Unconventional myosin complex	NAS	8022818
GO:0030426	Component	Growth cone	IEA
GO:0034329	Process	Cell junction assembly	IMP	22891260
GO:0034330	Process	Cell junction organization	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044295	Component	Axonal growth cone	IBA
GO:0044295	Component	Axonal growth cone	ISS
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IBA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22891260
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0150011	Process	Regulation of neuron projection arborization	ISS

Other IDs

• MIM: 604875
• HGNC: 7608
• e!Ensembl: ENSG00000066933

Protein

• UniProt ID: B2RTY4
• Protein name: Unconventional myosin-IXa (Unconventional myosin-9a)
• Protein 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 neuro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00788	RA	14 → 112	Ras association (RalGDS/AF-6) domain	Domain
  PF00063	Myosin_head	148 → 700	Myosin head (motor domain)	Domain
  PF00063	Myosin_head	827 → 1004	Myosin head (motor domain)	Domain
  PF00612	IQ	1043 → 1063	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1075 → 1095	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1116 → 1136	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1139 → 1159	IQ calmodulin-binding motif	Motif
  PF00620	RhoGAP	2076 → 2226	RhoGAP domain	Domain

• Tissue specificity: 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). {ECO:00002
• Sequence:

  MNINDGGRRRFEDNEHTLRIYPGAISEGTIYCPIPARKNSTAAEVIESLINKLHLDKTKC
  YVLAEVKEFGGEEWILNPTDCPVQRMMLWPRMALENRLSGEDYRFLLREKNLDGSIHYGS
  LQSWLRVTEERRRMMERGFLPQPQQKDFDDLCSLPDLNEKTLLENLRNRFKHEKIYTYVG
  SILIVINPFKFLPIYNPKYVKMYDNHQLGKLEPHIYAVADVAYHAMLQRKKNQCIVISGE
  SGSGKTQSTNFLIHHLTALSQKGFASGVEQIILGAGPVLEAFGNAKTAHNNNSSRFGKFI
  QVNYQETGTVLGAYVEKYLLEKSRLVYQEHNERNYHVFYYLLAGASEDERSAFHLKQPEE
  YHYLNQITKKPLRQSWDDYCYDSEPDCFTVEGEDLRHDFERLQLAMEMVGFLPKTRRQIF
  SLLSAILHLGNICYKKKTYRDDSIDICNPEVLPIVSELLEVKEEMLFEALVTRKTVTVGE
  KLILPYKLAEAVTVRNSMAKSLYSALFDWIVFRINHALLNSKDLEHNTKTLSIGVLDIFG
  FEDYENNSFEQFCINFANERLQHYFNQHIFKLEQEEYRTEGISWHNIDYIDNTCCINLIS
  KKPTGLLHLLDEESNFPQATNQTLLDKFKHQHEDNSYIEFPAVMEPAFIIKHYAGKVKYG
  VKDFREKNTDHMRPDIVALLRSSKNAFISGMIGIDPVAVFRWAILRAFFRAMVAFREAGK
  RNIHRKTGHDDTAPCAILKSMDSFSFLQHPVHQRSLEILQRCKEEKYSITRKNPRTPLSD
  LQGMNALNEKNQHDTFDIAWNGRTGIRQSRLSSGTSLLDKDGIFANSTSSKLLERAHGIL
  TRNKNFKSKPALPKHLLEVNSLKHLTRLTLQDRITKSLLHLHKKKKPPSISAQFQASLSK
  LMETLGQAEPYFVKCIRSNAEKLPLRFSDVLVLRQLRYTGMLETVRIRQSGYSSKYSFQD
  FVSHFHVLLPRNIIPSKFNIQDFFRKINLNPDNYQVGKTMVFLKEQERQHLQDLLHQEVL
  RRIILLQRWFRVLLCRQHFLHLRQASVIIQRFWRNYLNQKQVRDAAVQKDAFVMASAAAL
  LQASWRAHLERQRYLELRAAAIVIQQKWRDYYRRRHMAAICIQARWKAYRESKRYQEQRK
  KIILLQSTCRGFRARQRFKALKEQRLRETKPEVGLVNIKGYGSLEIQGSDPSGWEDCSFD
  NRIKAIEECKSVIESNRISRESSVDCLKESPNKQQERAQSQSGVDLQEDVLVRERPRSLE
  DLHQKKVGRAKRESRRMRELEQAIFSLELLKVRSLGGISPSEDRRWSTELVPEGLQSPRG
  TPDSESSQGSLELLSYEESQKSKLESVISDEGDLQFPSPKISSSPKFDSRDNALSASNET
  SSAEHLKDGTMKEMVVCSSESITCKPQLKDSFISNSLPTFFYIPQQDPLKTNSQLDTSIQ
  RNKLLENEDTAGEALTLDINRETRRYHCSGKDQIVPSLNTESSNPVLKKLEKLNTEKEER
  QKQLQQQNEKEMMEQIRQQTDILEKERKAFKTIEKPRIGECLVAPSSYQSKQRVERPSSL
  LSLNTSNKGELNVLGSLSLKDAALAQKDSSSAHLPPKDRPVTVFFERKGSPCQSSTVKEL
  SKTDRMGTQLNVACKLSNNRISKREHFRPTQSYSHNSDDLSREGNARPIFFTPKDNMSIP
  LVSKEALNSKNPQLHKEDEPAWKPVKLAGPGQRETSQRFSSVDEQAKLHKTMSQGEITKL
  AVRQKASDSDIRPQRAKMRFWAKGKQGEKKTTRVKPTTQSEVSPLFAGTDVIPAHQFPDE
  LAAYHPTPPLSPELPGSCRKEFKENKEPSPKAKRKRSVKISNVALDSMHWQNDSVQIIAS
  VSDLKSMDEFLLKKVNDLDNEDSKKDTLVDVVFKKALKEFRQNIFSFYSSALAMDDGKSI
  RYKDLYALFEQILEKTMRLEQRDSLGESPVRVWVNTFKVFLDEYMNEFKTSDCTATKVPK
  TERKKRRKKETDLVEEHNGHIFKATQYSIPTYCEYCSSLIWIMDRASVCKLCKYACHKKC
  CLKTTAKCSKKYDPELSSRQFGVELSRLTSEDRTVPLVVEKLINYIEMHGLYTEGIYRKS
  GSTNKIKELRQGLDTDAESVNLDDYNIHVIASVFKQWLRDLPNPLMTFELYEEFLRAMGL
  QERKETIRGVYSVIDQLSRTHLNTLERLIFHLVRIALQEDTNRMSANALAIVFAPCILRC
  PDTTDPLQSVQDISKTTTCVELIVVEQMNKYKARLKDISSLEFAENKAKTRLSLIRRSMG
  KGRIRRGNYPGPSSPVVVRLPSVSDVSEETLTSEAAMETDITEQQQAAMQQEERVLTEQI
  ENLQKEKEELTFEMLVLEPRASDDETLESEASIGTADSSENLNMESEYAISEKSERSLAL
  SSLKTAGKSEPSSKLRKQLKKQQDSLDVVDSSVSSLCLSNTASSHGTRKLFQIYSKSPFY
  RAASGNEALGMEGPLGQTKFLEDKPQFISRGTFNPEKGKQKLKNVKNSPQKTKETPEGTV
  MSGRRKTVDPDCTSNQQLALFGNNEFMV

• Sequence length: 2548

Pathways

KEGG:

Motor proteins

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Myasthenic syndrome, congenital, 24, presynaptic	Likely pathogenic	rs2143524373	RCV002221817

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Uncertain significance; Likely benign	rs146161400, rs138711800, rs118109377	RCV005914748 RCV005932323 RCV005907297
Bronchiectasis	Uncertain significance	rs780540584, rs539244075	RCV001292593 RCV001292594
Cervical cancer	Benign	rs146161400, rs539504814, rs3759819, rs28489035	RCV005914750 RCV005918703 RCV005923198 RCV005922151
Cholangiocarcinoma	Benign	rs3759819	RCV005923201
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	rs138711800, rs118109377	RCV005932324 RCV005907299
Familial cancer of breast	Benign	rs146161400, rs539504814	RCV005914747 RCV005918701
Flexion contracture	Conflicting classifications of pathogenicity; Uncertain significance	rs1567176190, rs374155761	RCV001007780 RCV001007781
Focal segmental glomerulosclerosis	Uncertain significance	rs141313736, rs190194477, rs147776325, rs745456369	RCV001849506 RCV001849827 RCV001849828 RCV001849829
Gastric cancer	Benign	rs146161400	RCV005914751
Lung cancer	Benign; Likely benign	rs3759819, rs28489035, rs118109377	RCV005923202 RCV005922153 RCV005907300
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs202090344	RCV005907784
Malignant tumor of esophagus	Benign; Likely benign	rs146161400, rs118109377	RCV005914749 RCV005907298
MYO9A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs2415129, rs2291280, rs147776325, rs148435644, rs149612475, rs141948847, rs2543427543, rs140202785, rs751439879, rs377015943, rs1212332796, rs55738821, rs74475742, rs748769280, rs371507119, rs1287140422, rs199824222, rs150553740, rs150726107, rs28380258, rs116934613, rs16956375, rs147624856, rs371946435, rs201780029, rs201411984, rs142546832, rs142776567, rs146981046, rs150655401	RCV003980761 RCV003984036 RCV003394281 RCV003916441 RCV003954035 RCV003919026 RCV003402544 RCV004754989 RCV003923878 RCV003964631 RCV003911749 RCV003916936 RCV003973986 RCV003911658 RCV003942071 RCV003959509 RCV003934247 RCV003946878 RCV003957410 RCV003432760 RCV003915934 RCV003915875 RCV003926019 RCV003950408 RCV003967998 RCV003923115 RCV003942935 RCV003906106 RCV004754671 RCV004754672 RCV004754673
Nonpapillary renal cell carcinoma	Benign	rs539504814	RCV005918702
Ovarian serous cystadenocarcinoma	Benign	rs3759819	RCV005923199
Presynaptic congenital myasthenic syndrome	Uncertain significance	rs764921711	RCV000710028
See cases	Uncertain significance	rs764758822, rs745389071	RCV002252970 RCV002252971
Thymoma	Benign	rs539504814, rs3759819, rs28489035	RCV005918704 RCV005923200 RCV005922152
Thyroid cancer, nonmedullary, 1	Likely benign	rs202090344	RCV005907785
Uterine corpus endometrial carcinoma	Benign	rs539504814, rs3759819	RCV005918705 RCV005923203

Associations from Text Mining
Disease Name	Relationship Type	References
Arthrogryposis	Associate	26752647
Stomach Neoplasms	Associate	30361512