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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1770
Gene name	Dynein axonemal heavy chain 9
Gene symbol	DNAH9
Synonyms (NCBI Gene)	CILD40DNAH17LDNEL1DYH9Dnahc9HL-20HL20
Chromosome	17
Chromosome location	17p12
Summary	This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript vari

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143007518	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs368341716	A>G	Pathogenic	Intron variant, genic upstream transcript variant
rs375908701	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs969193071	G>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1267599270	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1567747142	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1567808990	C>T	Pathogenic	Stop gained, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant

126

Show/Hide all (126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT681879	hsa-miR-3927-3p	HITS-CLIP	23706177
MIRT681878	hsa-miR-6831-5p	HITS-CLIP	23706177
MIRT681877	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT681876	hsa-miR-4459	HITS-CLIP	23706177
MIRT633904	hsa-miR-665	HITS-CLIP	23706177
MIRT681875	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT681874	hsa-miR-4468	HITS-CLIP	23706177
MIRT681873	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681872	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681871	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681870	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681869	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681868	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681867	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681866	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681865	hsa-miR-4458	HITS-CLIP	23706177
MIRT681864	hsa-miR-4500	HITS-CLIP	23706177
MIRT681863	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681862	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681861	hsa-miR-6086	HITS-CLIP	23706177
MIRT681860	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681859	hsa-miR-4451	HITS-CLIP	23706177
MIRT681858	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681857	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT681856	hsa-miR-1273e	HITS-CLIP	23706177
MIRT633934	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT633933	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT633932	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT633931	hsa-miR-3929	HITS-CLIP	23824327
MIRT633930	hsa-miR-4419b	HITS-CLIP	23824327
MIRT633929	hsa-miR-4478	HITS-CLIP	23824327
MIRT633928	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT633927	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT633926	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT633925	hsa-miR-4269	HITS-CLIP	23824327
MIRT633924	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT633923	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT633922	hsa-miR-1827	HITS-CLIP	23824327
MIRT633921	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT633920	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT633919	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT633918	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633917	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633916	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633915	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633914	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633913	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633912	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633911	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633910	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633909	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633908	hsa-miR-3122	HITS-CLIP	23824327
MIRT633907	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633906	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633905	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633904	hsa-miR-665	HITS-CLIP	23824327
MIRT681879	hsa-miR-3927-3p	HITS-CLIP	23706177
MIRT681878	hsa-miR-6831-5p	HITS-CLIP	23706177
MIRT681877	hsa-miR-4756-3p	HITS-CLIP	23706177
MIRT681876	hsa-miR-4459	HITS-CLIP	23706177
MIRT633904	hsa-miR-665	HITS-CLIP	23706177
MIRT681875	hsa-miR-6840-3p	HITS-CLIP	23706177
MIRT681874	hsa-miR-4468	HITS-CLIP	23706177
MIRT681873	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681872	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681871	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681870	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681869	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681868	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681867	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681866	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681865	hsa-miR-4458	HITS-CLIP	23706177
MIRT681864	hsa-miR-4500	HITS-CLIP	23706177
MIRT681863	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681862	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT681861	hsa-miR-6086	HITS-CLIP	23706177
MIRT681860	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681859	hsa-miR-4451	HITS-CLIP	23706177
MIRT681858	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681857	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT681856	hsa-miR-1273e	HITS-CLIP	23706177
MIRT633934	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT633933	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT633932	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT633931	hsa-miR-3929	HITS-CLIP	23824327
MIRT633930	hsa-miR-4419b	HITS-CLIP	23824327
MIRT633929	hsa-miR-4478	HITS-CLIP	23824327
MIRT633928	hsa-miR-3622a-3p	HITS-CLIP	23824327
MIRT633927	hsa-miR-3622b-3p	HITS-CLIP	23824327
MIRT633926	hsa-miR-6765-3p	HITS-CLIP	23824327
MIRT633925	hsa-miR-4269	HITS-CLIP	23824327
MIRT633924	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT633923	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT633922	hsa-miR-1827	HITS-CLIP	23824327
MIRT633921	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT633920	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT633919	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT633918	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT633917	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT633916	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT633915	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT633914	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT633913	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT633912	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT633911	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT633910	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT633909	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT633908	hsa-miR-3122	HITS-CLIP	23824327
MIRT633907	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT633906	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT633905	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT633904	hsa-miR-665	HITS-CLIP	23824327
MIRT939605	hsa-miR-1224-3p	CLIP-seq
MIRT939606	hsa-miR-2682	CLIP-seq
MIRT939607	hsa-miR-412	CLIP-seq
MIRT939608	hsa-miR-449c	CLIP-seq
MIRT939609	hsa-miR-642a	CLIP-seq
MIRT939610	hsa-miR-645	CLIP-seq
MIRT939611	hsa-miR-940	CLIP-seq
MIRT939605	hsa-miR-1224-3p	CLIP-seq
MIRT939606	hsa-miR-2682	CLIP-seq
MIRT939607	hsa-miR-412	CLIP-seq
MIRT939608	hsa-miR-449c	CLIP-seq
MIRT939609	hsa-miR-642a	CLIP-seq
MIRT939610	hsa-miR-645	CLIP-seq
MIRT939611	hsa-miR-940	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	30471717
GO:0005515	Function	Protein binding	IPI	30471718
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	11104725, 11839535, 15750039, 18950741, 23849778, 31178125
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030286	Component	Dynein complex	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0036157	Component	Outer dynein arm	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IBA
GO:0097729	Component	9+2 motile cilium	IDA	26909801
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120135	Component	Distal portion of axoneme	IDA	26909801, 30471717
GO:0120135	Component	Distal portion of axoneme	IEA
GO:0120197	Process	Mucociliary clearance	IEA

MIM	HGNC	e!Ensembl
603330	2953	ENSG00000007174

Q9NYC9

Protein name

Dynein axonemal heavy chain 9 (Axonemal beta dynein heavy chain 9) (Ciliary dynein heavy chain 9)

Protein function

Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to oc

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	214 → 789	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1292 → 1698	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1832 → 2158	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2314 → 2434	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2439 → 2618		Domain
PF17857	AAA_lid_1	2651 → 2750	AAA+ lid domain	Domain
PF12780	AAA_8	2795 → 3054	P-loop containing dynein motor region D4	Domain
PF12777	MT	3067 → 3410	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3436 → 3654	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3894 → 4015	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4029 → 4183	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4189 → 4484	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in upper and lower respiratory airway epithelia (at protein level). Not detected in spermatozoa (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:30471717, ECO:0000269|PubMed:31178125}.

Sequence

MRLAEERAALAAENADGEPGADRRLRLLGTYVAMSLRPAAGAWERCAGSAEAEQLLQAFL
GRDAAEGPRPLLVVRPGPRGLAIRPGLEVGPESGLAGAKALFFLRTGPEPPGPDSFRGAV
VCGDLPAAPLEHLAALFSEVVLPVLANEKNRLNWPHMICEDVRRHAHSLQCDLSVILEQV
KGKTLLPLPAGSEKMEFADSKSETVLDSIDKSVIYAIESAVIKWSYQVQVVLKRESSQPL
LQGENPTPKVELEFWKSRYEDLKYIYNQLRTITVRGMAKLLDKLQSSYFPAFKAMYRDVV
AALAEAQDIHVHLIPLQRHLEALENAEFPEVKPQLRPLLHVVCLIWATCKSYRSPGRLTV
LLQEICNLLIQQASNYLSPEDLLRSEVEESQRKLQVVSDTLSFFKQEFQDRRENLHTYFK
ENQEVKEWDFQSSLVFVRLDGFLGQLHVVEGLLKTALDFHKLGKVEFSGVRGNALSQQVQ
QMHEEFQEMYRLLSGSSSDCLYLQSTDFENDVSEFNQKVEDLDRRLGTIFIQAFDDAPGL
EHAFKLLDIAGNLLERPLVARDTSDKYLVLIQMFNKDLDAVRMIYSQHVQEEAELGFSPV
HKNMPTVAGGLRWAQELRQRIQGPFSNFGRITHPCMESAEGKRMQQKYEDMLSLLEKYET
RLYEDWCRTVSEKSQYNLSQPLLKRDPETKEITINFNPQLISVLKEMSYLEPREMKHMPE
TAAAMFSSRDFYRQLVANLELMANWYNKVMKTLLEVEFPLVEEELQNIDLRLRAAEETLN
WKTEGICDYVTEITSSIHDLEQRIQKTKDNVEEIQNIMKTWVTPIFKTKDGKRESLLSLD
DRHDRMEKYYNLIKESGLKIHALVQENLGLFSADPTSNIWKTYVNSIDNLLLNGFFLAIE
CSLKYLLENTECKAGLTPIFEAQLSLAIPELVFYPSLESGVKGGFCDIVEGLITSIFRIP
SLVPRLSPQNGSPHYQVDLDGIPDLANMRRTLMERVQRMMGLCCGYQSTFSQYSYLYVED
RKEVLGQFLLYGHILTPEEIEDHVEDGIPENPPLLSQFKVQIDSYETLYEEVCRLEPIKV
FDGWMKIDIRPFKASLLNIIKRWSLLFKQHLVDHVTHSLANLDAFIKKSESGLLKKVEKG
DFQGLVEIMGHLMAVKERQSNTDEMFEPLKQTIELLKTYEQELPETVFKQLEELPEKWNN
IKKVAITVKQQVAPLQANEVTLLRQRCTAFDAEQQQFWEQFHKEAPFRFDSIHPHQMLDA
RHIEIQQMESTMASISESASLFEVNVPDYKQLRQCRKEVCQLKELWDTIGMVTSSIHAWE
TTPWRNINVEAMELECKQFARHIRNLDKEVRAWDAFTGLESTVWNTLSSLRAVAELQNPA
IRERHWRQLMQATGVSFTMDQDTTLAHLLQLQLHHYEDEVRGIVDKAAKEMGMEKTLKEL
QTTWAGMEFQYEPHPRTNVPLLCSDEDLIEVLEDNQVQLQNLVMSKYVAFFLEEVSGWQK
KLSTVDAVISIWFEVQRTWTHLESIFTGSEDIRAQLPQDSKRFEGIDIDFKELAYDAQKI
PNVVQTTNKPGLYEKLEDIQGRLCLCEKALAEYLDTKRLAFPRFYFLSSSDLLDILSNGT
APQQVQRHLSKLFDNMAKMRFQLDASGEPTKTSLGMYSKEEEYVAFSEPCDCSGQVEIWL
NHVLGHMKATVRHEMTEGVTAYEEKPREQWLFDHPAQVALTCTQIWWTTEVGMAFARLEE
GYESAMKDYYKKQVAQLKTLITMLIGQLSKGDRQKIMTICTIDVHARDVVAKMIAQKVDN
AQAFLWLSQLRHRWDDEVKHCFANICDAQFLYSYEYLGNTPRLVITPLTDRCYITLTQSL
HLTMSGAPAGPAGTGKTETTKDLGRALGILVYVFNCSEQMDYKSCGNIYKGLAQTGAWGC
FDEFNRISVEVLSVVAVQVKSIQDAIRDKKQWFSFLGEEISLNPSVGIFITMNPGYAGRT
ELPENLKSLFRPCAMVVPDFELICEIMLVAEGFIEAQSLARKFITLYQLCKELLSKQDHY
DWGLRAIKSVLVVAGSLKRGDPDRPEDQVLMRSLRDFNIPKIVTDDMPIFMGLIGDLFPA
LDVPRRRDPNFEALVRKAIVDLKLQAEDNFVLKVVQLEELLAVRHSVFVVGGAGTGKSQV
LRSLHKTYQIMKRRPVWTDLNPKAVTNDELFGIINPATGEWKDGLFSSIMRELANITHDG
PKWILLDGDIDPMWIESLNTVMDDNKVLTLASNERIPLNPTMKLLFEISHLRTATPATVS
RAGILYINPADLGWNPPVSSWIEKREIQTERANLTILFDKYLPTCLDTLRTRFKKIIPIP
EQSMVQMVCHLLECLLTTEDIPADCPKEIYEHYFVFAAIWAFGGAMVQDQLVDYRAEFSK
WWLTEFKTVKFPSQGTIFDYYIDPETKKFEPWSKLVPQFEFDPEMPLQACLVHTSETIRV
CYFMERLMARQRPVMLVGTAGTGKSVLVGAKLASLDPEAYLVKNVPFNYYTTSAMLQAVL
EKPLEKKAGRNYGPPGNKKLIYFIDDMNMPEVDAYGTVQPHTIIRQHLDYGHWYDRSKLS
LKEITNVQYVSCMNPTAGSFTINPRLQRHFSVFVLSFPGADALSSIYSIILTQHLKLGNF
PASLQKSIPPLIDLALAFHQKIATTFLPTGIKFHYIFNLRDFANIFQGILFSSVECVKST
WDLIRLYLHESNRVYRDKMVEEKDFDLFDKIQTEVLKKTFDDIEDPVEQTQSPNLYCHFA
NGIGEPKYMPVQSWELLTQTLVEALENHNEVNTVMDLVLFEDAMRHVCHINRILESPRGN
ALLVGVGGSGKQSLTRLAAFISSMDVFQITLRKGYQIQDFKMDLASLCLKAGVKNLNTVF
LMTDAQVADERFLVLINDLLASGEIPDLYSDDEVENIISNVRNEVKSQGLVDNRENCWKF
FIDRIRRQLKVTLCFSPVGNKLRVRSRKFPAIVNCTAIHWFHEWPQQALESVSLRFLQNT
EGIEPTVKQSISKFMAFVHTSVNQTSQSYLSNEQRYNYTTPKSFLEFIRLYQSLLHRHRK
ELKCKTERLENGLLKLHSTSAQVDDLKAKLAAQEVELKQKNEDADKLIQVVGVETDKVSR
EKAMADEEEQKVAVIMLEVKQKQKDCEEDLAKAEPALTAAQAALNTLNKTNLTELKSFGS
PPLAVSNVSAAVMVLMAPRGRVPKDRSWKAAKVTMAKVDGFLDSLINFNKENIHENCLKA
IRPYLQDPEFNPEFVATKSYAAAGLCSWVINIVRFYEVFCDVEPKRQALNKATADLTAAQ
EKLAAIKAKIAHLNENLAKLTARFEKATADKLKCQQEAEVTAVTISLANRLVGGLASENV
RWADAVQNFKQQERTLCGDILLITAFISYLGFFTKKYRQSLLDRTWRPYLSQLKTPIPVT
PALDPLRMLMDDADVAAWQNEGLPADRMSVENATILINCERWPLMVDPQLQGIKWIKNKY
GEDLRVTQIGQKGYLQIIEQALEAGAVVLIENLEESIDPVLGPLLGREVIKKGRFIKIGD
KECEYNPKFRLILHTKLANPHYQPELQAQATLINFTVTRDGLEDQLLAAVVSMERPDLEQ
LKSDLTKQQNGFKITLKTLEDSLLSRLSSASGNFLGETVLVENLEITKQTAAEVEKKVQE
AKVTEVKINEAREHYRPAAARASLLYFIMNDLSKIHPMYQFSLKAFSIVFQKAVERAAPD
ESLRERVANLIDSITFSVYQYTIRGLFECDKLTYLAQLTFQILLMNREVNAVELDFLLRS
PVQTGTASPVEFLSHQAWGAVKVLSSMEEFSNLDRDIEGSAKSWKKFVESECPEKEKLPQ
EWKNKTALQRLCMLRAMRPDRMTYALRDFVEEKLGSKYVVGRALDFATSFEESGPATPMF
FILSPGVDPLKDVESQGRKLGYTFNNQNFHNVSLGQGQEVVAEAALDLAAKKGHWVILQN
IHLVAKWLSTLEKKLEEHSENSHPEFRVFMSAEPAPSPEGHIIPQGILENSIKITNEPPT
GMHANLHKALDNFTQDTLEMCSRETEFKSILFALCYFHAVVAERRKFGPQGWNRSYPFNT
GDLTISVNVLYNFLEANAKVPYDDLRYLFGEIMYGGHITDDWDRRLCRTYLGEFIRPEML
EGELSLAPGFPLPGNMDYNGYHQYIDAELPPESPYLYGLHPNAEIGFLTQTSEKLFRTVL
ELQPRDSQARDGAGATREEKVKALLEEILERVTDEFNIPELMAKVEERTPYIVVAFQECG
RMNILTREIQRSLRELELGLKGELTMTSHMENLQNALYFDMVPESWARRAYPSTAGLAAW
FPDLLNRIKELEAWTGDFTMPSTVWLTGFFNPQSFLTAIMQSTARKNEWPLDQMALQCDM
TKKNREEFRSPPREGAYIHGLFMEGACWDTQAGIITEAKLKDLTPPMPVMFIKAIPADKQ
DCRSVYSCPVYKTSQRGPTYVWTFNLKTKENPSKWVLAGVALLLQI

Sequence length

4486

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

362

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs769795916	RCV000626803
Ciliary dyskinesia, primary, 40	Likely pathogenic; Pathogenic	rs199667439, rs1331883139, rs747190555, rs749409414, rs944446438, rs2151036048, rs979425072, rs769795916, rs2072609192, rs953946888, rs2544454642, rs577494986, rs752647137, rs760026221, rs536602504 View all (12 more)	RCV001330578 RCV001375982 RCV001783132 RCV001780979 RCV001780983 RCV001780987 RCV001807946 RCV002492127 RCV005361908 RCV004763317 RCV002291081 RCV002302488 RCV003229649 RCV005356154 RCV005412428 RCV005363107 RCV003447667 RCV005400563 RCV005014823 RCV005637081 RCV003990573 RCV001270165 RCV000754653 RCV000754654 RCV000754656 RCV000754659 RCV000754660 RCV005012699
Congenital heart disease	Pathogenic; Likely pathogenic	rs200681631, rs760026221	RCV003772500 RCV003776614
DNAH9-related disorder	Pathogenic; Likely pathogenic	rs771595064, rs769795916, rs2072609192, rs1968784029, rs776395665, rs1409715354, rs1968790427, rs138149656, rs1186982981, rs771780422, rs1449686846, rs369930361, rs1432439769, rs766799921, rs2544882794, rs768238895 View all (1 more)	RCV003963248 RCV003401968 RCV004729028 RCV004749953 RCV003412032 RCV003402530 RCV003402199 RCV003414577 RCV003410499 RCV003393030 RCV003408433 RCV004750386 RCV003966717 RCV003956622 RCV003902008 RCV004748865 RCV003393937
Hydrocephalus	Pathogenic	rs769795916	RCV001619814
Non-immune hydrops fetalis	Pathogenic	rs771595064	RCV001376036
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs769795916, rs749364709	RCV002284225 RCV001255279
Uterine corpus endometrial carcinoma	Likely pathogenic	rs768106280	RCV005931657

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1567747142	-
Acute myeloid leukemia	Benign	rs16945431	RCV005903768
Cervical cancer	Benign	rs8079566	RCV005918831
Ciliary dyskinesia, primary, 50	Conflicting classifications of pathogenicity	rs372892940	RCV005863887
Clear cell carcinoma of kidney	Benign	rs141082617, rs149426186, rs16945431	RCV005921081 RCV005920962 RCV005903769
Colon adenocarcinoma	Benign	rs16945431	RCV005903767
Gastric cancer	Benign	rs8079566, rs16945431	RCV005918832 RCV005903770
Lung cancer	Benign	rs8079566, rs144815718	RCV005918835 RCV005926369
Malignant tumor of esophagus	Benign	rs151174418	RCV005906692
Melanoma	Uncertain significance	rs145472121	RCV005925589
Ovarian serous cystadenocarcinoma	Benign	rs8079566	RCV005918833
Prostate cancer	Uncertain significance	rs193920997	RCV000149115
Schizophrenia	Uncertain significance	rs2544310638	RCV002463525
Sinoatrial node dysfunction and deafness	Uncertain significance	rs1257839289	RCV004813239
Thyroid cancer, nonmedullary, 1	Benign	rs151174418	RCV005906693
Uterine carcinosarcoma	Benign	rs8079566	RCV005918834

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	35853630
Amyotrophic lateral sclerosis 1	Associate	35853630
Arm Injuries	Associate	30471718
Asthenozoospermia	Associate	33610189
Azoospermia	Associate	26662397
Bone Marrow Failure Disorders	Associate	32098966
Brain Injuries Traumatic	Associate	31038188
Bronchiolitis Obliterans	Associate	40065384
Bronchitis	Associate	40065384
Carcinoma in Situ	Associate	30471718
Carcinoma Pancreatic Ductal	Associate	37196196
Carcinoma Squamous Cell	Associate	36451444
Ciliary Motility Disorders	Associate	15750039, 30471717, 33610189
Disease	Associate	36140829
Heart Diseases	Associate	32037394
Hematologic Diseases	Associate	32098966
Infertility Male	Associate	30471717
Kartagener Syndrome	Associate	40065384
Laterality Defects Autosomal Dominant	Associate	30471718
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26822197
Leukemia Myeloid Acute	Associate	32098966
Light Fixation Seizure Syndrome	Associate	40065384
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	26662397
Myelodysplastic Syndromes	Associate	32098966
Neoplasm Invasiveness	Associate	24887297
Neoplasms	Associate	26822197, 32098966
Ocular Motility Disorders	Associate	30471717
Pre Eclampsia	Associate	40122115
Respiratory Insufficiency	Associate	30471718
Respiratory System Abnormalities	Associate	30471718
Severe Acute Respiratory Syndrome	Associate	33610189
Situs Inversus	Associate	30471717
Transposition of Great Vessels	Associate	36140829

DNAH9 (dynein axonemal heavy chain 9)