Gene Gene information from NCBI Gene database.
Entrez ID 1769
Gene name Dynein axonemal heavy chain 8
Gene symbol DNAH8
Synonyms (NCBI Gene)
ATPaseSPGF46hdhc9
Chromosome 6
Chromosome location 6p21.2
Summary The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs144711161 G>A Likely-pathogenic Genic downstream transcript variant, splice donor variant
rs145974361 G>A Likely-pathogenic Splice donor variant
rs149070832 C>T Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs200115379 A>C,G Likely-pathogenic Splice acceptor variant
rs376576474 G>A Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT038978 hsa-miR-19b-1-5p CLASH 23622248
MIRT646439 hsa-miR-8485 HITS-CLIP 23824327
MIRT646438 hsa-miR-499a-3p HITS-CLIP 23824327
MIRT646437 hsa-miR-499b-3p HITS-CLIP 23824327
MIRT646436 hsa-miR-181b-2-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003777 Function Microtubule motor activity IMP 32619401
GO:0003777 Function Microtubule motor activity NAS 9373155
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603337 2952 ENSG00000124721
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JB1
Protein name Dynein axonemal heavy chain 8 (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)
Protein function Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08385 DHC_N1 139 693 Dynein heavy chain, N-terminal region 1 Family
PF08393 DHC_N2 1268 1673 Dynein heavy chain, N-terminal region 2 Family
PF12774 AAA_6 1808 2135 Hydrolytic ATP binding site of dynein motor region Domain
PF17852 Dynein_AAA_lid 2290 2410 Dynein heavy chain AAA lid domain Domain
PF12775 AAA_7 2417 2598 Domain
PF17857 AAA_lid_1 2632 2727 AAA+ lid domain Domain
PF12780 AAA_8 2790 3052 P-loop containing dynein motor region D4 Domain
PF12777 MT 3065 3415 Microtubule-binding stalk of dynein motor Domain
PF12781 AAA_9 3439 3660 ATP-binding dynein motor region Domain
PF03028 Dynein_heavy 3905 4015 Dynein heavy chain region D6 P-loop domain Domain
PF18198 AAA_lid_11 4029 4185 Dynein heavy chain AAA lid domain Domain
PF18199 Dynein_C 4191 4487 Dynein heavy chain C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatozoa (at protein level). Not detected in airway epithelial cells (at protein level). {ECO:0000269|PubMed:31178125}.
Sequence
MMKLYIDNAAPDKLKGLCIFFVRCRNDVAINVKTIQEEALFTVLDASKGLLNGIRDMLAN
IFLPAVLATNNWGALNQSKQGESEKHIFTETINRYLSFLDGARISIEGTVKLKTIDNVNF
SKLHTFEEVTAAASNSETVHQLEEVLMVWYKQIEQVLIESEQMRKEAGDSGPLTELEHWK
RMSAKFNYIIEQIKGPSCKAVINVLNVAHSKLLKNWRDLDARITDTANESKDNVRYLYTL
EKVCQPLYNHDLVSMAHGIQNLINAIRMIHGVSRYYNTSERMTSLFIKVTNQMVTACKAY
ITDGGLNHVWDQETPVVLKKIQDCIFLFKEYQASFHKTRKLISESSGEKSFEVSEMYIFG
KFEAFCKRLEKITEMITVVQTYSTLSNSTIEGIDIMAIKFRNIYQGVKKKQYDILDPRRT
EFDTDFLDFMTKINGLEVQIQAFMNSSFGKILSSQQALQLLQRFQKLNIPCLGLEINHTI
ERILQYYVAELDATKKLYHSQKDDPPLARNMPPIAGKILWVRQLYRRISEPINYFFKNSD
ILSSPDGKAVIRQYNKISYVLVEFEVVYHTAWIREISQLHYALQATLFVRHPETGKLLVN
FDPKILEVVRETKCMIKMKLDVPEQAKRLLKLESKLKADKLYLQGLLQYYDELCQEVPSV
FVNLMTPKMKKVESVLRQGLTVLTWSSLTLESF
FQEVELVLDMFNQLLKKISDLCEMHID
TVLKEIAKTVLISLPESGATKVEDMLTLNETYTKEWADILNHKSKHVEEAVRELISIFEQ
IYEVKYTGKVGKQSEQRKHVVFGSETGEGENNDYEANIVNEFDTHDKEDEFKKECKEVFA
FFSHQLLDSLQKATRLSLDTMKRRIFVASLYGRKQSEDIISFIKSEVHLAIPNVVMIPSL
DDIQQAINRMIQLTLEVSRGVAHWGQQQIRPIKSVIPSPTTTDVTHQNTGKLLKKEERSF
EEAIPARKLKNFYPGVAEHKDISKLVLLLSSSVNSLRKAAHEALQDFQKYKTLWTEDRDV
KVKEFLANNPSLTEIRSEILHYATFEQEIDELKPIIVVGALELHTEPMKLALSIEAKAWK
MLLCRYLNEEYKKKMSYMIAFINEYLKKLSRPIRDLDDVRFAMEALSCIRDNEIQMDMTL
GPIEEAYAILNRFEVEVTKEESEAVDTLRYSFNKLQSKAVSVQEDLVQVQPKFKSNLLES
VEVFREDVINFAEAYELEGPMVPNIPPQEASNRLQIFQASFDDLWRKFVTYSSGEQLFGL
PVTDYEVLHKTRKELNLLQKLYGLYDTVMSSISGYYEILWGDVDIEKINAELLEFQNRCR
KLPKGLKDWQAFLDLKKRIDDFSESCPLLEMMTNKAMKQRHWDRISELTGTPFDVESDSF
CLRNIMEAPLLKHKDDIEDICISAIKEKDIEAKLTQVIENWTNQNLSFAAFKGKGELLLK
GTESGEIITLMEDSLMVLGSLLSNRYNAPFKKNIQNWVYKLSTSSDIIEEWLVVQNLWVY
LEAVFVGGDIAKQLPQEAKRFQNIDKSWIKIMQRAHENPNVINCCVGDETMGQLLPHLHE
QLEVCQKSLTGYLEKKRLLFPRFFFVSDPVLLEILGQASDSHTIQPHLPAVSDNINEVTF
HAKDYDRIMAVISREGEKIVLDNSVMAKGPVEIWLLDLLKMQMSSLHNIIRSA
FYQISDS
GFQLLPFLSHFPAQVGLLGIQMLWTHDSEEALRNAKDDRKIMQVTNQKFLDILNTLISQT
THDLSKFDRVKFETLITIHVHQRDIFDDLVKMHIKSPTDFEWLKQSRFYFKEDLDQTVVS
ITDVDFIYQNEFLGCTDRLVITPLTDRCYITLAQALGMNMGGAPAGPAGTGKTETTKDMG
RCLGKYVVVFNCSDQMDFRGLGRIFKGLAQSGSWGCFDEFNRIELPVLSVAAQQIYIVLT
ARKERKKQFIFSDGDCVDLNPEFGIFLTMNPGYAGRQELPENLKIQFRTVAMMVPDRQII
MRVKLASCGFLENVILAQKFYVLYKLCEEQLTKQVHYDFGLRNILSVLRTLGSQKRARPE
DSELSIVMRGLRDMNLSKLVDEDEPLFLSLINDLFPGLQLDSNTYAELQNAVAHQVQIEG
LINHPPWNLKLVQLYETSLVRHGLMTLGPSGSGKT
TVITILMKAQTECGRPHREMRMNPK
AITAPQMFGRLDTATNDWTDGIFSTLWRKTLKAKKGENIFLILDGPVDAIWIENLNSVLD
DNKTLTLANGDRIPMAPSCKLLFEVHNIENASPATVSRMGMVYISSSALSWRPILQAWLK
KRTAQEAAVFLTLYEKVFEDTYTYMKLNLNPKMQLLECNYIVQSLNLLEGLIPSKEEGGV
SCVEHLHKLFVFGLMWSLGALLELESREKLEAFLRQHESKLDLPEIPKGSNQTMYEFYVT
DYGDWEHWNK
KLQPYYYPTDSIPEYSSILVPNVDNIRTNFLIDTIAKQHKAVLLTGEQGT
AKTVMVKAYLKKYDPEVQLSKSLNFSSATEPMMFQRTIESYVDKRIGSTYGPPGGRKMTV
FIDDINMPVINEWGDQITNEIVRQMMEMEGMYSLDKPGDFTTIVDVQLIAAMIHPGGGRN
DIPQRLKRQFTVFNCTLP
SNASIDKIFGIIGCGYFDPCRSFKPQICEMIVNLVSVGRVLW
QWTKVKMLPTPSKFHYIFNLRDLSRIWQGMLTIKAEECASIPTLLSLFKHECSRVIADRF
ITPEDEQWFNAHLTRAVEENIGSDAAS
CILPEPYFVDFLREMPEPTGDEPEDSVFEVPKI
YELMPSFDFLAEKLQFYQRQFNEIIRGTSLDLVFFKDAMTHLIKISRIIRTSCGNALLVG
VGGSGKQSLSRLASFIAGYQIFQITLTRSYNVTNLTDDLKALYKVAGADGKGITFIFTDS
EIKDEAFLEYLNNLLSSGEISNLFARDEMDEITQGLISVMKRELPRHPPTFDNLYEYFIS
RSRKNLHVVLCFSPVGEKFRARSLKFPGLISGCTMDWFSRWPREALIAVASYFLSDYNIV
CSSEIKRQVVETMGLFHDMVSESCESYFQRYRRRAHVTPKSYLSFINGYKNI
YAEKVKFI
NEQAERMNIGLDKLMEASESVAKLSQDLAVKEKELAVASIKADEVLAEVTVSAQASAKIK
NEVQEVKDKAQKIVDEIDSEKVKAESKLEAAKPALEEAEAALNTIKPNDIATVRKLAKPP
HLIMRIMDCVLLLFQKKIDPVTMDPEKSCCKPSWGESLKLMSATGFLWSLQQFPKDTINE
ETVELLQPYFNMDDYTFESAKKVCGNVAGLLSWTLAMAIFYGINREVLPLKANLAKQEGR
LAVANAELGKAQALLDEKQAELDKVQAKFDAAMNEKMDLLNDADTCRKKMQAASTLIDGL
SGEKIRWTQQSKEFKAQINRLVGDILLCTGFLSYLGPFNQIFRNYLLKDQWEMEL
RARKI
PFTENLNLISMLVDPPTIGEWGLQGLPGDDLSIQNGIIVTKATRYPLLIDPQTQGKTWIK
SKEKENDLQVTSLNHKYFRTHLEDSLSLGRPLLIEDIHEELDPALDNVLEKNFIKSGTTF
KVKVGDKECDIMDTFKLYITTKLPNPAFTPEINAKTSVIDFTVTMKGLENQLLRRVILTE
KQELEAERVKLLEDVTFNKRKMKELEDNLLYKLSATKGSLVDDESLIGVLRTTKQTAAEV

SEKLHVAAETEIKINAAQEEFRPAATRGSILYFLITEMSMVNIMYQTSLAQFLKLFDQSM
ARSEKSPLPQKRITNIIEYLTYEVFTYSVRGLYENHKFLFVLLMTLKIDLQRGTVKHREF
QALIKGGAALDLKACPPKPYRWILDMTWLNLVELSKLPQFAEIMNQISRNEKGWKSWFDK
DAPEEEIIPDGYNDSLDTCHKLLLIRSWCPDRTVFQARKYIADSLEEKYTEPVILNLEKT
WEESDTRTPLICFLSMGSDPTNQIDALAKKLKLECRTISMGQGQEVHARKLIQMSMQQGG
WVLLQNCHLGLEFMEELLETLITTEASDDSFRVWITTEPHDRFPITLLQTSLKFT
NEPPQ
GVRAGLKRTFAGINQDLLDISNLPMWKPMLYTVAFLHSTVQERRKFGPLGWNIPYEFNSA
DFSASVQFIQNHLDECDIKKGVSWNTVRYMIGEVQYGGRVTDDFDKRLLNCFARVWFSEK
MFEPSFCFYTGYKIPLCKTLDQYFEYIQSLPSLDNPEVFGLHPNA
DITYQSNTASAVLET
ITNIQPKESGGGVGETREAIVYRLSEDMLSKLPPDYIPHEVKSRLIKMGHLNSMNIFLRQ
EIDRMQRVISILRSSLSDLKLAIEGTIIMSENLRDALDNMYDARIPQLWKRVSWDSSTLG
FWFTELLERNAQFSTWIFEGRPNVFWMTGFFNPQGFLTAMRQEVTRAHKGWALDTVTIHN
EVLRQTKEEITSPPGEGVYIYGLYMDGAAWDRRNGKLMESTPKVLFTQLPVLHIFAINST
APKDPKLYVCPIYKKPRRTDLTFITVVYLRTVLSPDHWILRGVALLC
DIK
Sequence length 4490
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1776
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAH8-related disorder Likely pathogenic; Pathogenic rs144711161, rs2532361573, rs2533985932, rs758035061 RCV003417812
RCV003419156
RCV003392957
RCV003394395
Inherited obesity Pathogenic rs149070832 RCV005414539
Primary ciliary dyskinesia Pathogenic; Likely pathogenic rs2127637299, rs767180208, rs1297488496, rs2150536009, rs765386646, rs150428096, rs1299196993, rs201568629, rs777610268, rs777613343, rs2150520528, rs2150400998, rs1250753880, rs781634544, rs781128315
View all (77 more)
RCV001387978
RCV001389130
RCV001383007
RCV001389347
RCV001386198
RCV001386442
RCV001382267
RCV001924917
RCV001950767
RCV001946690
RCV001916141
RCV002002540
RCV001958677
RCV002040921
RCV003058658
RCV003086020
RCV003076050
RCV002579020
RCV002662549
RCV002653693
RCV002819923
RCV002837619
RCV002866859
RCV002872214
RCV002886195
RCV002882237
RCV002957927
RCV003047773
RCV000228661
RCV005099991
RCV003536113
RCV003536427
RCV003537554
RCV003537647
RCV003538933
RCV003539123
RCV003539061
RCV003536904
RCV003537014
RCV003536743
RCV003538241
RCV003648024
RCV003647514
RCV003647292
RCV003647293
RCV003651099
RCV003651096
RCV003651152
RCV003651190
RCV003651191
RCV003652359
RCV003652659
RCV003652777
RCV003649861
RCV003650057
RCV003650178
RCV003650275
RCV003651667
RCV003651357
RCV003651704
RCV003838907
RCV003872247
RCV000461675
RCV000535093
RCV000545575
RCV000524761
RCV000629379
RCV000629371
RCV000629354
RCV000629385
RCV000704988
RCV000686591
RCV000704751
RCV000685592
RCV000700010
RCV000700884
RCV000689710
RCV000703864
RCV000690985
RCV000809648
RCV000822721
RCV000813448
RCV000794179
RCV000803454
RCV001046662
RCV001048431
RCV001213978
RCV001225896
RCV001230655
RCV001226235
RCV001247703
RCV001243071
RCV003652117
Spermatogenic failure 46 Likely pathogenic; Pathogenic rs199969537, rs2533558063, rs2533098735, rs766707325, rs376903331, rs776176679, rs753831132, rs1563044711, rs752692263, rs1762922751 RCV005356284
RCV003989172
RCV003990632
RCV005367463
RCV004760742
RCV005633645
RCV005400485
RCV001265116
RCV001265119
RCV001265120
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56315820, rs73420237, rs77769111 RCV005924660
RCV005920400
RCV005899535
Cervical cancer Benign rs77769111 RCV005899536
Cholangiocarcinoma Benign rs4714199 RCV005915378
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1361266974 RCV004560234
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Multiple Associate 33704367, 36308074
Acidosis Renal Tubular Associate 18632794
Amyotrophic Lateral Sclerosis Associate 26475856
Asthenozoospermia Associate 33611675, 37417617
Ataxia Associate 28807751
Bipolar Disorder Associate 20872768
Bloom Syndrome Associate 17878217, 19671661
Breast Neoplasms Associate 19889640, 23639630, 34329194, 9774623
Carcinoma Hepatocellular Associate 23233483, 30981109
Carcinoma Pancreatic Ductal Associate 36319832