MYO15A (myosin XVA)

Gene

• Entrez ID: 51168
• Gene name: Myosin XVA
• Gene symbol: MYO15A
• Synonyms: DFNB3, MYO15
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA	21873635
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007605	Process	Sensory perception of sound	IEA
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0016459	Component	Myosin complex	IEA
GO:0030050	Process	Vesicle transport along actin filament	IBA	21873635
GO:0030898	Function	Actin-dependent ATPase activity	IBA	21873635
GO:0031982	Component	Vesicle	IBA	21873635
GO:0032420	Component	Stereocilium	IEA
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098858	Component	Actin-based cell projection	IBA	21873635

Other IDs

• MIM: 602666
• HGNC: 7594
• e!Ensembl: 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

• 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

Pathways

KEGG:

Motor proteins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Deafness	Deafness, Autosomal Recessive 3	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	24875298, 23208854, 25792667, 20642360, 17546645, 24123792, 24926664, 23767834, 11735029, 21917145, 30828794, 27734841, 22736430, 27870113, 9603736, 23967202
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	7704031, 7616538, 26242193, 25792667, 18804553, 27375115
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	23208854, 19309289, 15590698, 27375115, 9603735, 10915760, 26226137, 15654330

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital sensorineural hearing loss	Congenital sensorineural hearing loss
Non-syndromic sensorineural deafness	Autosomal recessive non-syndromic sensorineural deafness type DFNB