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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs769795916	RCV000626803	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Pathogenic; Likely pathogenic	rs200681631, rs760026221	RCV003772500 RCV003776614	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrocephalus	Pathogenic	rs769795916	RCV001619814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Pathogenic	rs771595064	RCV001376036	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs769795916, rs749364709	RCV002284225 RCV001255279	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs768106280	RCV005931657	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary dyskinesia, primary, 50	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sinoatrial node dysfunction and deafness	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS TOTALIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29635245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35853630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	35853630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	33610189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	26662397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	31038188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	26797031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	40065384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	Pubtator	40065384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	30471718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37196196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36451444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	30471717, 30471718		★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 40	Ciliary Dyskinesia	UNIPROT_DG	30471717, 30471718		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CILIARY DYSKINESIA, PRIMARY, 40	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	30471718		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	15750039, 30471717, 33610189	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	32037394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30471717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	11247663, 15750039, 26797031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	30471717, 30471718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32098966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28165652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	30471717, 30471718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	11247663, 15750039, 26797031, 30471717		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	30471717, 30471718		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	30471717		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31264768		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Situs ambiguous	Situs ambiguus	ORPHANET_DG	30471718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	ORPHANET_DG	30471718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	BEFREE	30471717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs inversus	Pubtator	30471717	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	ORPHANET_DG	30471718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28165652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition of the great arteries	Pubtator	36140829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DNAH9 (dynein axonemal heavy chain 9)