Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1770
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal heavy chain 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAH9
Synonyms (NCBI Gene) Gene synonyms aliases
CILD40, DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD40
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p12
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IBA 21873635
GO:0003341 Process Cilium movement IMP 30471717
GO:0005515 Function Protein binding IPI 30471718
GO:0005524 Function ATP binding IEA
GO:0005874 Component Microtubule IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603330 2953 ENSG00000007174
Protein
UniProt ID 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
WKTEGICDY
VTEITSSIHDLEQRIQKTKDNVEEIQNIMKTWVTPIFKTKDGKRESLLSLD
DRHDRMEKYYNLIKESGLKIHALVQENLGLFSADPTSNIWKTYVNSIDNLLLNGFFLAIE
CSLKYLLENTECKAGLTPIFEAQLSLAIPELVFYPSLESGVKGGFCDIVEGLITSIFRIP
SLVPRLSPQNGSPHYQVDLDGIPDLANMRRTLMERVQRMMGLCCGYQSTFSQYSYLYVED
RKEVLGQFLLYGHILTPEEIEDHVEDGIPENPPLLSQFKVQIDSYETLYEEVCRLEPIKV
FDGWMKIDIRPFKASLLNIIKRWSLLFKQHLVDHVTHSLANLDAFIKKSESGLLKKVEKG
DFQGLVEIMGHLMAVKERQSNTDEMFEPLKQTIELLKTYEQELPETVFKQLEELPEKWNN
IKKVAITVKQQVAPLQANEVTLLRQRCTAFDAEQQQFWEQFHKEAPFRFDSIHPHQMLDA
RHIEIQQMESTMASISESASLFEVNVPDYKQLRQCRKEVCQLKELWDTIGMVTSSIHAWE
TTPWRNINVEAMELECKQFARHIRNLDKEVRAWDAFTGLESTVWNTLSSLRAVAELQNPA
IRERHWRQLMQATGVSFTMDQDTTLAHLLQLQLHHYEDEVRGIVDKAAKEMGMEKTLKEL
QTTWAGMEFQYEPHPRTNVPLLCSDEDLIEVLEDNQVQLQNLVMSKYVAFFLEEVSGWQK
KLSTVDAVISIWFEVQRTWTHLESIFTGSEDIRAQLPQDSKRFEGIDIDFKELAYDAQKI
PNVVQTTNKPGLYEKLEDIQGRLCLCEKALAEYLDTKRLAFPRFYFLSSSDLLDILSNGT
APQQVQRHLSKLFDNMAKMRFQLDASGEPTKTSLGMYSKEEEYVAFSEPCDCSGQVEIWL
NHVLGHMKATVRHEMTEG
VTAYEEKPREQWLFDHPAQVALTCTQIWWTTEVGMAFARLEE
GYESAMKDYYKKQVAQLKTLITMLIGQLSKGDRQKIMTICTIDVHARDVVAKMIAQKVDN
AQAFLWLSQLRHRWDDEVKHCFANICDAQFLYSYEYLGNTPRLVITPLTDRCYITLTQSL
HLTMSGAPAGPAGTGKTETTKDLGRALGILVYVFNCSEQMDYKSCGNIYKGLAQTGAWGC
FDEFNRISVEVLSVVAVQVKSIQDAIRDKKQWFSFLGEEISLNPSVGIFITMNPGYAGRT
ELPENLKSLFRPCAMVVPDFELICEIMLVAEGFIEAQSLARKFITLYQLCKELLSKQDHY
DWGLRAIKSVLVVAGSLKRGDPDRPEDQVLMRSLRDFNIPKIVTDDMPIFMGLIGDLFPA
LDVPRRRDPNFEALVRKAIVDLKLQAEDNFVLKVVQLEELLAVRHSVFVVGGAGTGKS
QV
LRSLHKTYQIMKRRPVWTDLNPKAVTNDELFGIINPATGEWKDGLFSSIMRELANITHDG
PKWILLDGDIDPMWIESLNTVMDDNKVLTLASNERIPLNPTMKLLFEISHLRTATPATVS
RAGILYINPADLGWNPPVSSWIEKREIQTERANLTILFDKYLPTCLDTLRTRFKKIIPIP
EQSMVQMVCHLLECLLTTEDIPADCPKEIYEHYFVFAAIWAFGGAMVQDQLVDYRAEFSK
WWLTEFKTVKFPSQGTIFDYYIDPETKKFEPWSK
LVPQFEFDPEMPLQACLVHTSETIRV
CYFMERLMARQRPVMLVGTAGTGKSVLVGAKLASLDPEAYLVKNVPFNYYTTSAMLQAVL
EKPLEKKAGRNYGPPGNKKLIYFIDDMNMPEVDAYGTVQPHTIIRQHLDYGHWYDRSKLS
LKEITNVQYVSCMNPTAGSFTINPRLQRHFSVFVLSFP
GADALSSIYSIILTQHLKLGNF
PASLQKSIPPLIDLALAFHQKIATTFLPTGIKFHYIFNLRDFANIFQGILFSSVECVKST
WDLIRLYLHESNRVYRDKMVEEKDFDLFDKIQTEVLKKTFDDIEDPVEQT
QSPNLYCHFA
NGIGEPKYMPVQSWELLTQTLVEALENHNEVNTVMDLVLFEDAMRHVCHINRILESPRGN
ALLVGVGGSGKQSLTRLAAFISSMDVFQITLRKGYQIQDFKMDLASLCLKAGVKNLNTVF
LMTDAQVADERFLVLINDLLASGEIPDLYSDDEVENIISNVRNEVKSQGLVDNRENCWKF
FIDRIRRQLKVTLCFSPVGNKLRVRSRKFPAIVNCTAIHWFHEWPQQALESVSLRFLQNT
EGIEPTVKQSISKFMAFVHTSVNQTSQSYLSNEQRYNYTTPKSFLEFIRLYQSL
LHRHRK
ELKCKTERLENGLLKLHSTSAQVDDLKAKLAAQEVELKQKNEDADKLIQVVGVETDKVSR
EKAMADEEEQKVAVIMLEVKQKQKDCEEDLAKAEPALTAAQAALNTLNKTNLTELKSFGS
PPLAVSNVSAAVMVLMAPRGRVPKDRSWKAAKVTMAKVDGFLDSLINFNKENIHENCLKA
IRPYLQDPEFNPEFVATKSYAAAGLCSWVINIVRFYEVFCDVEPKRQALNKATADLTAAQ
EKLAAIKAKIAHLNENLAKLTARFEKATADKLKCQQEAEVTAVTISLANRLVGGLASENV
RWADAVQNFKQQERTLCGDILLITAFISYLGFFTKKYRQSLLDRTWRPYL
SQLKTPIPVT
PALDPLRMLMDDADVAAWQNEGLPADRMSVENATILINCERWPLMVDPQLQGIKWIKNKY
GEDLRVTQIGQKGYLQIIEQALEAGAVVLIENLEESIDPVLGPLLGREVIKKGRFIKIGD
KECEYNPKFRLILHTKLANPHYQPELQAQATLINFTVTRDGLEDQLLAAVVSMERPDLEQ
LKSDLTKQQNGFKITLKTLEDSLLSRLSSASGNFLGETVLVENLEITKQTAAEV
EKKVQE
AKVTEVKINEAREHYRPAAARASLLYFIMNDLSKIHPMYQFSLKAFSIVFQKAVERAAPD
ESLRERVANLIDSITFSVYQYTIRGLFECDKLTYLAQLTFQILLMNREVNAVELDFLLRS
PVQTGTASPVEFLSHQAWGAVKVLSSMEEFSNLDRDIEGSAKSWKKFVESECPEKEKLPQ
EWKNKTALQRLCMLRAMRPDRMTYALRDFVEEKLGSKYVVGRALDFATSFEESGPATPMF
FILSPGVDPLKDVESQGRKLGYTFNNQNFHNVSLGQGQEVVAEAALDLAAKKGHWVILQN
IHLVAKWLSTLEKKLEEHSENSHPEFRVFMSAEPAPSPEGHIIPQGILENSIKIT
NEPPT
GMHANLHKALDNFTQDTLEMCSRETEFKSILFALCYFHAVVAERRKFGPQGWNRSYPFNT
GDLTISVNVLYNFLEANAKVPYDDLRYLFGEIMYGGHITDDWDRRLCRTYLGEFIRPEML
EGELSLAPGFPLPGNMDYNGYHQYIDAELPPESPYLYGLHPNA
EIGFLTQTSEKLFRTVL
ELQPRDSQARDGAGATREEKVKALLEEILERVTDEFNIPELMAKVEERTPYIVVAFQECG
RMNILTREIQRSLRELELGLKGELTMTSHMENLQNALYFDMVPESWARRAYPSTAGLAAW
FPDLLNRIKELEAWTGDFTMPSTVWLTGFFNPQSFLTAIMQSTARKNEWPLDQMALQCDM
TKKNREEFRSPPREGAYIHGLFMEGACWDTQAGIITEAKLKDLTPPMPVMFIKAIPADKQ
DCRSVYSCPVYKTSQRGPTYVWTFNLKTKENPSKWVLAGVALLL
QI
Sequence length 4486
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Ciliary dyskinesia Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, CILIARY DYSKINESIA, PRIMARY, 40, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)
30471718, 30471717
Kartagener syndrome Kartagener Syndrome, Polynesian Bronchiectasis rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532
View all (17 more)
30471717, 30471718
Unknown
Disease term Disease name Evidence References Source
Situs Inversus situs inversus GenCC
Schizophrenia schizophrenia GenCC
Associations from Text Mining
Disease Name Relationship Type References
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