Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4649
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin IXA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYO9A
Synonyms (NCBI Gene) Gene synonyms aliases	CMS24
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q23
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(4)

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

Show/Hide all(114)

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

Show/Hide all(33)

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

MIM	HGNC	e!Ensembl
604875	7608	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

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		Rho GTPase cycle

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Arthrogryposis multiplex congenita	arthrogryposis syndrome	N/A	N/A	GenCC
Congenital finger flexion contractures	Flexion contracture	N/A	N/A	ClinVar
Gout	Gout	N/A	N/A	GWAS
Myasthenic Syndrome	myasthenic syndrome, congenital, 24, presynaptic, presynaptic congenital myasthenic syndrome, Presynaptic congenital myasthenic syndrome	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthrogryposis	Associate	26752647
Stomach Neoplasms	Associate	30361512

MYO9A (myosin IXA)