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.	53904
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin IIIA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYO3A
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA90, DFNB30
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-ter

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140154015	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs143918373	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs193919333	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs201023600	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs752046945	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs757660866	ATAA>-	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, genic downstream transcript variant, frameshift variant
rs760866131	GA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs764507216	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs769462859	A>-,AA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs777580042	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs876657652	G>C	Likely-pathogenic	Downstream transcript variant, splice donor variant, intron variant, genic downstream transcript variant
rs1023746725	A>C,G	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs1554833178	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1564544199	A>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1564544348	G>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1564568849	G>A	Pathogenic	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs1564573788	T>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1564602202	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1589079163	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant

Show/Hide all(87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT531693	hsa-miR-33b-3p	PAR-CLIP	22012620
MIRT531692	hsa-miR-515-3p	PAR-CLIP	22012620
MIRT531691	hsa-miR-519e-3p	PAR-CLIP	22012620
MIRT531690	hsa-miR-3918	PAR-CLIP	22012620
MIRT531689	hsa-miR-148a-3p	PAR-CLIP	22012620
MIRT531688	hsa-miR-148b-3p	PAR-CLIP	22012620
MIRT531687	hsa-miR-152-3p	PAR-CLIP	22012620
MIRT531686	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531685	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531684	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531683	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT531682	hsa-miR-133a-5p	PAR-CLIP	22012620
MIRT531681	hsa-miR-6131	PAR-CLIP	22012620
MIRT531680	hsa-miR-138-5p	PAR-CLIP	22012620
MIRT531679	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT531678	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT531677	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT531676	hsa-miR-3127-5p	PAR-CLIP	22012620
MIRT531675	hsa-miR-4276	PAR-CLIP	22012620
MIRT531674	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT440164	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT440164	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT531693	hsa-miR-33b-3p	PAR-CLIP	22012620
MIRT531692	hsa-miR-515-3p	PAR-CLIP	22012620
MIRT531691	hsa-miR-519e-3p	PAR-CLIP	22012620
MIRT531690	hsa-miR-3918	PAR-CLIP	22012620
MIRT531689	hsa-miR-148a-3p	PAR-CLIP	22012620
MIRT531688	hsa-miR-148b-3p	PAR-CLIP	22012620
MIRT531687	hsa-miR-152-3p	PAR-CLIP	22012620
MIRT531686	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531685	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531684	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531683	hsa-miR-4763-5p	PAR-CLIP	22012620
MIRT531682	hsa-miR-133a-5p	PAR-CLIP	22012620
MIRT531681	hsa-miR-6131	PAR-CLIP	22012620
MIRT531680	hsa-miR-138-5p	PAR-CLIP	22012620
MIRT531679	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT531678	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT531677	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT531676	hsa-miR-3127-5p	PAR-CLIP	22012620
MIRT531675	hsa-miR-4276	PAR-CLIP	22012620
MIRT531674	hsa-miR-6894-3p	PAR-CLIP	22012620
MIRT1169563	hsa-miR-1273f	CLIP-seq
MIRT1169564	hsa-miR-1276	CLIP-seq
MIRT1169565	hsa-miR-143	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT1169568	hsa-miR-4708-5p	CLIP-seq
MIRT1169569	hsa-miR-4770	CLIP-seq
MIRT1169570	hsa-miR-519e	CLIP-seq
MIRT1169571	hsa-miR-550a	CLIP-seq
MIRT1169572	hsa-miR-759	CLIP-seq
MIRT2048860	hsa-miR-1202	CLIP-seq
MIRT2048861	hsa-miR-138	CLIP-seq
MIRT2048862	hsa-miR-148a	CLIP-seq
MIRT2048863	hsa-miR-148b	CLIP-seq
MIRT2048864	hsa-miR-152	CLIP-seq
MIRT2048865	hsa-miR-1913	CLIP-seq
MIRT2048866	hsa-miR-3194-5p	CLIP-seq
MIRT2048867	hsa-miR-324-3p	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT2048868	hsa-miR-3972	CLIP-seq
MIRT2048869	hsa-miR-4323	CLIP-seq
MIRT1169570	hsa-miR-519e	CLIP-seq
MIRT2048870	hsa-miR-548q	CLIP-seq
MIRT1169571	hsa-miR-550a	CLIP-seq
MIRT2048865	hsa-miR-1913	CLIP-seq
MIRT2277762	hsa-miR-1915	CLIP-seq
MIRT2048867	hsa-miR-324-3p	CLIP-seq
MIRT1169566	hsa-miR-328	CLIP-seq
MIRT1169567	hsa-miR-370	CLIP-seq
MIRT2277763	hsa-miR-4721	CLIP-seq
MIRT2277764	hsa-miR-4726-3p	CLIP-seq
MIRT2277765	hsa-miR-4740-3p	CLIP-seq
MIRT2576468	hsa-miR-214	CLIP-seq
MIRT2576469	hsa-miR-3619-5p	CLIP-seq
MIRT2576470	hsa-miR-4514	CLIP-seq
MIRT2576471	hsa-miR-4690-5p	CLIP-seq
MIRT2576472	hsa-miR-4692	CLIP-seq
MIRT2576473	hsa-miR-761	CLIP-seq
MIRT2576468	hsa-miR-214	CLIP-seq
MIRT2576469	hsa-miR-3619-5p	CLIP-seq
MIRT2576470	hsa-miR-4514	CLIP-seq
MIRT2576471	hsa-miR-4690-5p	CLIP-seq
MIRT2576472	hsa-miR-4692	CLIP-seq
MIRT2576473	hsa-miR-761	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	1262820, 12672820
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000146	Function	Microfilament motor activity	IMP	17021180
GO:0000166	Function	Nucleotide binding	IEA
GO:0001917	Component	Photoreceptor inner segment	IBA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	12672820
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25822849
GO:0005516	Function	Calmodulin binding	IDA	12672820
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	25822849
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	12032315
GO:0007605	Process	Sensory perception of sound	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030175	Component	Filopodium	IDA	17021180
GO:0030832	Process	Regulation of actin filament length	IBA
GO:0031941	Component	Filamentous actin	IDA	12672820
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	IBA
GO:0032426	Component	Stereocilium tip	ISS
GO:0032433	Component	Filopodium tip	IBA
GO:0032433	Component	Filopodium tip	IDA	25822849
GO:0032433	Component	Filopodium tip	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0043531	Function	ADP binding	IDA	12672820
GO:0046777	Process	Protein autophosphorylation	IDA	12672820
GO:0051491	Process	Positive regulation of filopodium assembly	IBA
GO:0060002	Function	Plus-end directed microfilament motor activity	IDA	12672820
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
606808	7601	ENSG00000095777

Protein

UniProt ID

Q8NEV4

Protein name

Myosin-IIIa (EC 2.7.11.1)

Protein function

Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required for normal cochlear hair bundle development an

PDB

6JLE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	21 → 287	Protein kinase domain	Domain
PF00063	Myosin_head	340 → 1041	Myosin head (motor domain)	Domain
PF00612	IQ	1083 → 1101	IQ calmodulin-binding motif	Motif
PF00612	IQ	1347 → 1367	IQ calmodulin-binding motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.

Sequence

MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDE
EIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGE
RMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH
RRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALF
KIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ
LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEK
CYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT
YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTII
NDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKK
KLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI
LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGE
TIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFG
FENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFL
QKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNA
SGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQA
RKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCA
TILEKAGLDNWALGKTKVFLKYYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQE
KRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQ
AENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV
KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLER
KAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQE
EGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIV
TTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYF
ILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK
TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRE
RRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFRRLLRKTSQRRRLVQQS

Sequence length

1616

Interactions

View interactions

	KEGG
	Motor proteins

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 30	rs193919333, rs1564568849, rs1023746725, rs1564544199, rs1564544348, rs1564602202, rs760866131, rs1589079163	N/A

Show/Hide Unknown Diseases (3)

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.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Hearing Loss	Hearing loss, autosomal recessive	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	20090771
Chromosome Aberrations	Associate	32519820
Deafness	Associate	30682115
Diabetes Mellitus Type 1	Stimulate	36175575
Hearing Loss	Associate	32519820, 33078831, 33953343
Hearing Loss High Frequency	Associate	32519820
Hearing Loss Sensorineural	Associate	23503914, 32519820, 35580552
Hyperlipidemias	Associate	36175575
Hypothyroidism	Associate	36175575
Ketosis	Stimulate	36175575
Nervous System Diseases	Stimulate	36175575
Nonsyndromic Deafness	Associate	23990876, 32519820, 33953343
Polycystic Ovary Syndrome	Stimulate	36175575
Urinary Bladder Neoplasms	Associate	21586619

MYO3A (myosin IIIA)