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.	51168
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin XVA
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYO15A
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB3, MYO15
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair

Show/Hide all(127)

SNP ID	Visualize variation	Clinical significance	Consequence
rs926074	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs116833707	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs117071200	G>A,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs121908965	A>G,T	Pathogenic	Intron variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121908966	A>T	Pathogenic	Intron variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121908967	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs121908968	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121908970	C>A,T	Pathogenic, benign-likely-benign, benign	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121908971	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs121908972	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs138861831	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs141475629	C>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs189255177	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs191171943	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs191710555	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs199537186	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs199621031	G>A	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199783506	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs200146361	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, non coding transcript variant, coding sequence variant
rs200424851	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs200532919	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs200623501	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201028204	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201234482	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, missense variant
rs201734915	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs201978571	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, splice donor variant, 3 prime UTR variant
rs370351502	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs372466080	C>T	Pathogenic, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs373520843	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs374742590	G>A,T	Pathogenic	Splice donor variant
rs375290498	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, stop gained, coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs376451611	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs377385081	G>A	Pathogenic	Intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs397517285	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397517286	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs546575046	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs549138385	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs727503309	G>A	Pathogenic	Splice donor variant
rs727503312	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, genic downstream transcript variant
rs727503315	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727503316	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs727504995	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs746051220	G>C,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748108031	G>A,T	Pathogenic	Splice donor variant
rs748868741	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs749136456	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs749465098	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs751142446	G>A,T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs754865266	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs757070287	->GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs759523751	C>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs760461823	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs760980785	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs763975867	T>A,C	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs765468034	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766187994	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs767426819	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs769260536	C>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs769884586	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs771720649	G>C,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs772536599	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs779077039	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs779093807	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs780170125	ACAG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs781546107	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794729637	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs864309607	AGCCGGGG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs866595552	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876657708	G>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs878853227	G>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878854410	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854411	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854412	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854413	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878854414	C>A,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs878854415	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886044338	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs886052676	C>T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1001523088	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519601	G>CCAGGCCCGTGCAGCTC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057519603	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057519604	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057519606	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1057519607	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060499798	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1064795282	G>A	Pathogenic	Coding sequence variant, splice donor variant, missense variant
rs1064797218	->TCTCA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1199192203	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs1209665716	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1209867958	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1233145763	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1240409145	G>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, intron variant, 3 prime UTR variant, coding sequence variant
rs1245338270	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1270302810	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1305675114	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1322423998	T>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1330406146	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs1332576936	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1415858976	TT>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555539322	CG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555539827	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555543296	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555543432	G>A,T	Uncertain-significance, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1555543836	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555544187	->AC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555545225	->G	Pathogenic	Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1555547112	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1555547524	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567620939	->GCCATCT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567623176	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567638693	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567641234	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567648703	T>G	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1567649945	G>A	Pathogenic	Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1567650971	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567652792	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567658710	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567658906	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567664131	GACT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1597752877	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597753664	->GGCC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597754305	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597768378	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597780918	A>T	Likely-pathogenic	Splice acceptor variant
rs1597784648	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597787868	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597803558	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(17)

miRTarBase ID	miRNA	Experiments
MIRT1169209	hsa-miR-3119	CLIP-seq
MIRT1169210	hsa-miR-4446-5p	CLIP-seq
MIRT1169209	hsa-miR-3119	CLIP-seq
MIRT2048710	hsa-miR-3128	CLIP-seq
MIRT2048711	hsa-miR-3174	CLIP-seq
MIRT2048712	hsa-miR-3182	CLIP-seq
MIRT2048713	hsa-miR-4287	CLIP-seq
MIRT1169210	hsa-miR-4446-5p	CLIP-seq
MIRT2048714	hsa-miR-4469	CLIP-seq
MIRT2048715	hsa-miR-4685-3p	CLIP-seq
MIRT2048716	hsa-miR-4713-5p	CLIP-seq
MIRT2048717	hsa-miR-4720-5p	CLIP-seq
MIRT2048718	hsa-miR-4722-3p	CLIP-seq
MIRT2048719	hsa-miR-4799-3p	CLIP-seq
MIRT2048720	hsa-miR-627	CLIP-seq
MIRT2048721	hsa-miR-924	CLIP-seq
MIRT2277622	hsa-miR-4653-3p	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10552926
GO:0007626	Process	Locomotory behavior	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032421	Component	Stereocilium bundle	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098858	Component	Actin-based cell projection	IBA

MIM	HGNC	e!Ensembl
602666	7594	ENSG00000091536

Protein

UniProt ID

Q9UKN7

Protein name

Unconventional myosin-XV (Unconventional myosin-15)

Protein function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments

PDB

6KZ1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	1224 → 1887	Myosin head (motor domain)	Domain
PF00612	IQ	1926 → 1946	IQ calmodulin-binding motif	Motif
PF00784	MyTH4	2108 → 2216	MyTH4 domain	Family
PF07653	SH3_2	2871 → 2951	Variant SH3 domain	Domain
PF00784	MyTH4	3093 → 3203	MyTH4 domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells. {ECO:0000269

Sequence

MAKEEDEEKKAKKGKKGKKAPEPEKPKRSLKGTSRLFMGFRDRTPKISKKGQFRSASAFF
WGLHTGPQKTKRKRKARTVLKSTSKLMTQMRMGKKKRAMKGKKPSFMVIRFPGRRGYGRL
RPRARSLSKASTAINWLTKKFLLKKAEESGSEQATVDAWLQRSSSRMGSRKLPFPSGAEI
LRPGGRLRRFPRSRSIYASGEPLGFLPFEDEAPFHHSGSRKSLYGLEGFQDLGEYYDYHR
DGDDYYDRQSLHRYEEQEPYLAGLGPYSPAWPPYGDHYYGYPPEDPYDYYHPDYYGGPFD
PGYTYGYGYDDYEPPYAPPSGYSSPYSYHDGYEGEAHPYGYYLDPYAPYDAPYPPYDLPY
HTPYDVPYFDPYGVHYTVPYAEGVYGGGDEAIYPPEVPYFYPEESASAFVYPWVPPPIPS
PHNPYAHAMDDIAELEEPEDAGVERQGTSFRLPSAAFFEQQGMDKPARSKLSLIRKFRLF
PRPQVKLFGKEKLEVPLPPSLDIPLPLGDADEEEDEEELPPVSAVPYGHPFWGFLTPRQR
NLQRALSAFGAHRGLGFGPEFGRPVPRPATSLARFLKKTLSEKKPIARLRGSQKARAGGP
AVREAAYKRFGYKLAGMDPEKPGTPIVLRRAQPRARSSNDARRPPAPQPAPRTLSHWSAL
LSPPVPPRPPSSGPPPAPPLSPALSGLPRPASPYGSLRRHPPPWAAPAHVPPAPQASWWA
FVEPPAVSPEVPPDLLAFPGPRPSFRGSRRRGAAFGFPGASPRASRRRAWSPLASPQPSL
RSSPGLGYCSPLAPPSPQLSLRTGPFQPPFLPPARRPRSLQESPAPRRAAGRLGPPGSPL
PGSPRPPSPPLGLCHSPRRSSLNLPSRLPHTWRRLSEPPTRAVKPQVRLPFHRPPRAGAW
RAPLEHRESPREPEDSETPWTVPPLAPSWDVDMPPTQRPPSPWPGGAGSRRGFSRPPPVP
ENPFLQLLGPVPSPTLQPEDPAADMTRVFLGRHHEPGPGQLTKSAGPTPEKPEEEATLGD
PQLPAETKPPTPAPPKDVTPPKDITPPKDVLPEQKTLRPSLSYPLAACDQTRATWPPWHR
WGTLPQAAAPLAPIRAPEPLPKGGERRQAAPGRFAVVMPRVQKLSSFQRVGPATLKPQVQ
PIQDPKPRACSLRWSCLWLRADAYGPWPRVHTHPQSCHLGPGAACLSLRGSWEEVGPPSW
RNKMHSIRNLPSMRFREQHGEDGVEDMTQLEDLQETTVLSNLKIRFERNLIYTYIGSILV
SVNPYQMFGIYGPEQVQQYNGRALGENPPHLFAVANLAFAKMLDAKQNQCIIISGESGSG
KTEATKLILRYLAAMNQKREVMQQIKILEATPLLESFGNAKTVRNDNSSRFGKFVEIFLE
GGVISGAITSQYLLEKSRIVFQAKNERNYHIFYELLAGLPAQLRQAFSLQEAETYYYLNQ
GGNCEIAGKSDADDFRRLLAAMEVLGFSSEDQDSIFRILASILHLGNVYFEKYETDAQEV
ASVVSAREIQAVAELLQISPEGLQKAITFKVTETMREKIFTPLTVESAVDARDAIAKVLY
ALLFSWLITRVNALVSPRQDTLSIAILDIYGFEDLSFNSFEQLCINYANENLQYLFNKIV
FQEEQEEYIREQIDWQEITFADNQPCINLISLKPYGILRILDDQCCFPQATDHTFLQKCH
YHHGANPLYSKPKMPLPEFTIKHYAGKVTYQVHKFLDKNHDQVRQDVLDLFVRSRTRVVA
HLFSSHAPQAAPQRLGKSSSVTRLYKAHTVAAKFQQSLLDLVEKMERCNPLFMRCLKPNH
KKEPGLFEPDVVMAQLRYSGVLETVRIRKEGFPVRLPFQGFIDRYCCLVALKHDLPANGD
MCVSVLSRLCKVMPNMYRVGVSKLFLKEHLYQLLESMREHVLNLAALTLQRCLRGFFIKR
RFRSLRHKIILLQSRARGYLARQRYQQMRRSLVKFRSLVHAYVSRRRYLKLRAEWRCQVE
GALLWEQEELSKREVVAVGHLEVPAELAGLLQAVAGLGLAQVPQVAPVRTPRLQAEPRVT
LPLDINNYPMAKFVQCHFKEPAFGMLTVPLRTPLTQLPAEHHAEAVSIFKLILRFMGDPH
LHGARENIFGNYIVQKGLAVPELRDEILAQLANQVWHNHNAHNAERGWLLLAACLSGFAP
SPCFNKYLLKFVSDYGRNGFQAVCQHRLMQAMGRAQQQGSGAARTLPPTQLEWTATYEKA
SMALDVGCFNGDQFSCPVHSWSTGEEVAGDILRHRGLADGWRGWTVAMKNGVQWAELAGH
DYVLDLVSDLELLRDFPRQKSYFIVGTEGPAASRGGPKVVFGNSWDSDEDMSTRPQPQEH
MPKVLDSDGYSSHNQDGTNGETEAQRGTATHQESDSLGEPAVPHKGLDCYLDSLFDPVLS
YGDADLEKPTAIAYRMKGGGQPGGGSSSGTEDTPRRPPEPKPIPGLDASTLALQQAFIHK
QAVLLAREMTLQATALQQQPLSAALRSLPAEKPPAPEAQPTSVGTGPPAKPVLLRATPKP
LAPAPLAKAPRLPIKPVAAPVLAQDQASPETTSPSPELVRYSTLNSEHFPQPTQQIKNIV
RQYQQPFRGGRPEALRKDGGKVFMKRPDPHEEALMILKGQMTHLAAAPGTQVSREAVALV
KPVTSAPRPSMAPTSALPSRSLEPPEELTQTRLHRLINPNFYGYQDAPWKIFLRKEVFYP
KDSYSHPVQLDLLFRQILHDTLSEACLRISEDERLRMKALFAQNQLDTQKPLVTESVKRA
VVSTARDTWEVYFSRIFPATGSVGTGVQLLAVSHVGIKLLRMVKGGQEAGGQLRVLRAYS
FADILFVTMPSQNMLEFNLASEKVILFSARAHQVKTLVDDFILELKKDSDYVVAVRNFLP
EDPALLAFHKGDIIHLQPLEPPRVGYSAGCVVRRKVVYLEELRRRGPDFGWRFGTIHGRV
GRFPSELVQPAAAPDFLQLPTEPGRGRAAAVAAAVASAAAAQEVGRRREGPPVRARSADH
GEDALALPPYTMLEFAQKYFRDPQRRPQDGLRLKSKEPRESRTLEDMLCFTKTPLQESLI
ELSDSSLSKMATDMFLAVMRFMGDAPLKGQSDLDVLCNLLKLCGDHEVMRDECYCQVVKQ
ITDNTSSKQDSCQRGWRLLYIVTAYHSCSEVLHPHLTRFLQDVSRTPGLPFQGIAKACEQ
NLQKTLRFGGRLELPSSIELRAMLAGRSSKRQLFLLPGGLERHLKIKTCTVALDVVEEIC
AEMALTRPEAFNEYVIFVVTNRGQHVCPLSRRAYILDVASEMEQVDGGYMLWFRRVLWDQ
PLKFENELYVTMHYNQVLPDYLKGLFSSVPASRPSEQLLQQVSKLASLQHRAKDHFYLPS
VREVQEYIPAQLYRTTAGSTWLNLVSQHRQQTQALSPHQARAQFLGLLSALPMFGSSFFF
IQSCSNIAVPAPCILAINHNGLNFLSTETHELMVKFPLKEIQSTRTQRPTANSSYPYVEI
ALGDVAAQRTLQLQLEQGLELCRVVAVHVENLLSAHEKRLTLPPSEITLL

Sequence length

3530

Interactions

View interactions

	KEGG
	Motor proteins

Show/Hide Causal Diseases (3)

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 3	rs878854414, rs121908967, rs1245338270, rs1233145763, rs1057519606, rs397517287, rs751142446, rs766187994, rs781546107, rs878854415, rs121908968, rs750130520, rs1567620939, rs1057519607, rs373462792 View all (83 more)	N/A
hearing impairment	Hearing impairment	rs184435771, rs750130520, rs1060499798, rs767270134, rs769260536	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs781546107, rs1209665716, rs779077039, rs1567641234	N/A

Show/Hide Unknown Diseases (1)

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.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	26399936
Agnosia	Associate	37672513
Carcinoma Renal Cell	Associate	36150242
Deafness	Associate	20505086, 22245518, 23226338, 23767834, 23967202, 26011067, 26915297, 27344577, 27573290, 27870113, 29482514, 29692870, 30139988, 30682115, 30953472 View all (19 more)
Deafness Autosomal Recessive	Associate	10330345, 24926664, 24949729
Deafness Autosomal Recessive 3	Associate	10330345, 19274735, 29482514, 30953472, 31791989, 36743950
Distal myopathy Nonaka type	Associate	38167320
Hearing Loss	Associate	19274735, 19888295, 22245518, 23865914, 24105371, 26242193, 27573290, 27870113, 28000701, 29196752, 29482514, 29692870, 30068307, 30139988, 30953472 View all (27 more)
Hearing Loss Sensorineural	Associate	19274735, 26242193, 29986705, 35580552, 36401330
Neoplasms	Associate	11583965, 36150242
Neoplastic Syndromes Hereditary	Associate	24105371, 29849560, 31581539
Neuroendocrine Tumors	Associate	11583965
Nonsyndromic Deafness	Associate	19274735, 22736430, 23226338, 23865914, 26226137, 26308726, 29849560, 31250571, 31389194, 32617096, 33524517, 34093702, 34837038, 36401330
Nonsyndromic sensorineural hearing loss	Stimulate	26445815
Nonsyndromic sensorineural hearing loss	Associate	28383030, 30068307, 30733538, 31898538, 33398081, 35346193, 37189200, 38167320
Pituitary Neoplasms	Associate	11583965
Pulmonary Disease Chronic Obstructive	Associate	29547942
Severe Acute Respiratory Syndrome	Associate	29482514, 30733538
Usher Syndromes	Associate	25404053, 35580552

MYO15A (myosin XVA)