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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	146754
Gene name	Dynein axonemal heavy chain 2
Gene symbol	DNAH2
Synonyms (NCBI Gene)	DNAHC2DNHD3SPGF45
Chromosome	17
Chromosome location	17p13.1
Summary	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubu

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments
MIRT939590	hsa-miR-135a	CLIP-seq
MIRT939591	hsa-miR-135b	CLIP-seq
MIRT2448390	hsa-miR-1253	CLIP-seq
MIRT2448391	hsa-miR-4434	CLIP-seq
MIRT2448392	hsa-miR-4516	CLIP-seq
MIRT2448393	hsa-miR-765	CLIP-seq
MIRT2448390	hsa-miR-1253	CLIP-seq
MIRT2448391	hsa-miR-4434	CLIP-seq
MIRT2448392	hsa-miR-4516	CLIP-seq
MIRT2448393	hsa-miR-765	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003777	Function	Microtubule motor activity	NAS	9256245
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9256245
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	31178125
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:0030286	Component	Dynein complex	IBA
GO:0030286	Component	Dynein complex	IEA
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IDA	31178125
GO:0036126	Component	Sperm flagellum	IMP	30811583
GO:0036156	Component	Inner dynein arm	IEA
GO:0036156	Component	Inner dynein arm	IMP	30811583
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IMP	30811583
GO:0042995	Component	Cell projection	IEA
GO:0045505	Function	Dynein intermediate chain binding	IBA
GO:0045505	Function	Dynein intermediate chain binding	IEA
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0060285	Process	Cilium-dependent cell motility	IMP	30811583
GO:0060285	Process	Cilium-dependent cell motility	NAS	9256245
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0097729	Component	9+2 motile cilium	IBA
GO:0097729	Component	9+2 motile cilium	IEA

MIM	HGNC	e!Ensembl
603333	2948	ENSG00000183914

Q9P225

Protein name

Dynein axonemal heavy chain 2 (Axonemal beta dynein heavy chain 2) (Ciliary dynein heavy chain 2) (Dynein heavy chain domain-containing protein 3)

Protein function

As part of the axonemal inner dynein arm complex plays a central role in ciliary beat (PubMed:30811583). Expressed in sperm flagellum, it is required for sperm motility (PubMed:30811583). Dyneins are microtubule-based molecular motors possessing

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	242 → 395	Dynein heavy chain, N-terminal region 1	Family
PF08385	DHC_N1	407 → 725	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1220 → 1628	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1765 → 2091	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2253 → 2371	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2377 → 2557		Domain
PF17857	AAA_lid_1	2588 → 2683	AAA+ lid domain	Domain
PF12780	AAA_8	2732 → 2992	P-loop containing dynein motor region D4	Domain
PF12777	MT	3005 → 3341	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3365 → 3586	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3832 → 3946	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	3960 → 4117	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4123 → 4423	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in lung. Expressed in spermatozoa (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:9256245}.

Sequence

MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLE
GPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDP
CFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFA
PQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKE
LVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGV
KHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSK
LPKLISLIRIIWVNSPHYNTRERLTSLFRKVCDCQYHFARWEDGKQGPLPCFFGAQGPQI
TRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFE
LVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPY
VAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQ
EWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKSLLILFAEIDYWERLLFETPHYVVN
VAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRLLDKKIHPGLKKLHWALK
GASAFFITECRIHASKVQMIVNEFKASTLTIGWRAQEMSEKLLVRISGKRVYRDLEFEED
QREHRAAVQQKLMNLHQDVVTIMTNSYEVFKNDGPEIQQQWMLYMIRLDRMMEDALRLNV
KWSLLELSKAINGDGKTSPNPLFQVLVILKNDLQGSVAQVEFSPTLQTLAGVVNDIGNHL
FSTISVFCHLPDILTKRKLHREPIQTVVEQDEDIKKIQTQISSGMTNNASLLQNYLKTWD
MYREIWEINKDSFIHRYQRLNPPVSSFVADIARYTEVANNVQKEETVTNIQFVLLDCSHL
KFSLVQHCNEWQNKFATLLREMAAGRLLELHTYLKENAEKISRPPQTLEELGVSLQLVDA
LKHDLANVETQIPPIHEQFAILEKYEVPVEDSVLEMLDSLNGEWVVFQQTLLDSKQMLKK
HKEKFKTGLIHSADDFKKKAHTLLEDFEFKGHFTSNVGYMSALDQITQVRAMLMAMREEE
NSLRANLGIFKIEQPPSKDLQNLEKELDALQQIWEIARDWEENWNEWKTGRFLILQTETM
ETTAHGLFRRLTKLAKEYKDRNWEIIETTRSKIEQFKRTMPLISDLRNPALRERHWDQVR
DEIQREFDQESESFTLEQIVELGMDQHVEKIGEISASATKELAIEVALQNIAKTWDVTQL
DIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVI
EMILTVQRQWMYLENIFLGEDIRKQLPNESTLFDQVNSNWKAIMDRMNKDNNALRSTHHP
GLLDTLIEMNTILEDIQKSLDMYLETKRHIFPRFYFLSNDDLLEILGQSRNPEAVQPHLK
KCFDNIKLLRIQKVGGPSSKWEAVGMFSGDGEYIDFLHSVFLEGPVESWLGDVEQTMRVT
LRDLLRNCHLALRKFLNKRDKWVKEWAGQVVITASQIQWTADVTKCLLTAKERADKKILK
VMKKNQVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKSGLMDVNSFDWL
SQLRFYWEKDLDDCVIRQTNTQFQYNYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGS
PKGPAGTGKTETVKDLGKALGIYVIVVNCSEGLDYKSMGRMYSGLAQTGAWGCFDEFNRI
NIEVLSVVAHQILCILSALAAGLTHFHFDGFEINLVWSCGIFITMNPGYAGRTELPENLK
SMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRAL
TSLLRYAGKKRRLQPDLTDEEVLLLSMRDMNIAKLTSVDAPLFNAIVQDLFPNIELPVID
YGKLRETVEQEIRDMGLQSTPFTLTKVFQLYETKNSRHSTMIVGCTGSGKTASWRILQAS
LSSLCRAGDPNFNIVREFPLNPKALSLGELYGEYDLSTNEWTDGILSSVMRTACADEKPD
EKWILFDGPVDTLWIENMNSVMDDNKVLTLINGERIAMPEQVSLLFEVEDLAMASPATVS
RCGMVYTDYADLGWKPYVQSWLEKRPKAEVEPLQRMFEKLINKMLAFKKDNCKELVPLPE
YSGITSLCKLYSALATPENGVNPADGENYVTMVEMTFVFSMIWSVCASVDEEGRKRIDSY
LREIEGSFPNKDTVYEYFVDPKIRSWTSFEDKLPKSWRYPPNAPFYKIMVPTVDTVRYNY
LVSSLVANQNPILLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIES
RVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRTKQTIK
YIREMFLMAAMGPPGGGRTVISPRLRSRFNIINMTFPTKSQIIRIFGTMINQKLQDFEEE
VKPIGNVVTEATLDMYNTVVQRFLPTPTKMHYLFNLRDISKVFQGMLRANKDFHDTKSSI
TRLWIHECFRVFSDRLVDAADTEAFMGIISDKLGSFFDLTFHHLCPSKRPPIFGDFLKEP
KVYEDLTDLTVLKTVMETALNEYNLSPSVVPMQLVLFREAIEHITRIVRVIGQPRGNMLL
VGIGGSGRQSLARLASSICDYTTFQIEVTKHYRKQEFRDDIKRLYRQAGVELKTTSFIFV
DTQIADESFLEDINNILSSGEVPNLYKPDEFEEIQSHIIDQARVEQVPESSDSLFAYLIE
RVQNNLHIVLCLSPMGDPFRNWIRQYPALVNCTTINWFSEWPQEALLEVAEKCLIGVDLG
TQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRHNYVTPTKYLELLSGYKKLLGEKRQEL
LAQANKLRTGLFKIDETREKVQVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQ
KAVTANSEKIAVEEIKCQALADNAQKDLEEALPALEEAMRALESLNKKDIGEIKSYGRPP
AQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPD
FQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAALAQLREKQAALAEAQEK
LREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGL
EEDLGYLVGDCLLAAAFLSYMGPFLTNYRDEIVNQIWIGKIWELQVPCSPSFAIDNFLCN
PTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGGQGLKIIDLQ
MSDYLRILEHAIHFGYPVLLQNVQEYLDPTLNPMLNKSVARIGGRLLMRIGDKEVEYNTN
FRFYITTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVIN
IAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLHTSKITATEVTEQLETSETTEINT
DLAREAYRPCAQRASILFFVLNDMGCIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRID
YLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREG
QMDNPCSSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNAAPEKAMLPGEWE
NACNEMQRMLIVRSLRQDRVAFCVTSFIITNLGSRFIEPPVLNMKSVLEDSTPRSPLVFI
LSPGVDPTSALLQLAEHMGMAQRFHALSLGQGQAPIAARLLREGVTQGHWVFLANCHLSL
SWMPNLDKLVEQLQVEDPHPSFRLWLSSIPHPDFPISILQVSIKMTTEPPKGLKANMTRL
YQLMSEPQFSRCSKPAKYKKLLFSLCFFHSVLLERKKFLQLGWNIIYGFNDSDFEVSENL
LSLYLDEYEETPWDALKYLIAGINYGGHVTDDWDRRLLTTYINDYFCDQSLSTPFHRLSA
LETYFIPKDGSLASYKEYISLLPGMDPPEAFGQHPNADVASQITEAQTLFDTLLSLQPQI
TPTRAGGQTREEKVLELAADVKQKIPEMIDYEGTQKLLALDPSPLNVVLLQEIQRYNTLM
QTILFSLTDLEKGIQGLIVMSTSLEEIFNCIFDAHVPPLWGKAYPSQKPLAAWTRDLAMR
VEQFELWASRARPPVIFWLSGFTFPTGFLTAVLQSSARQNNVSVDSLSWEFIVSTVDDSN
LVYPPKDGVWVRGLYLEGAGWDRKNSCLVEAEPMQLVCLMPTIHFRPAESRKKSAKGMYS
CPCYYYPNRAGSSDRASFVIGIDLRSGAMTPDHWIKRGTALLMSLDS

Sequence length

4427

Interactions

View interactions

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

153

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 45	Pathogenic; Likely pathogenic	rs1486243737, rs2544249759, rs201414958, rs773343805, rs369801878, rs763882266, rs545849987	RCV003148522 RCV003990788 RCV001265109 RCV001265110 RCV001265111 RCV001265112 RCV001265113

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs73232344	RCV005935211
Clear cell carcinoma of kidney	Likely benign; Benign	rs144934136, rs73232344	RCV005929465 RCV005935212
DNAH2-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs35788701, rs145214760, rs140035206, rs117487916, rs145127395, rs144172284, rs144934136, rs564117935, rs146533727, rs117091920, rs147043611, rs150168099, rs150114403, rs146210717, rs146334962 View all (98 more)	RCV003984123 RCV003928930 RCV003906698 RCV003954089 RCV003906703 RCV003919130 RCV003919131 RCV003929080 RCV003906761 RCV003929081 RCV003938945 RCV003946556 RCV003906762 RCV003980897 RCV003906763 RCV003938946 RCV003938947 RCV003938948 RCV003966744 RCV003909293 RCV003919603 RCV003921847 RCV003924064 RCV003929841 RCV003974406 RCV003894416 RCV003904337 RCV003979675 RCV003967402 RCV003914200 RCV003916868 RCV003982256 RCV003977309 RCV003911383 RCV003911486 RCV003909821 RCV003914135 RCV003934052 RCV003934067 RCV003944223 RCV003959520 RCV003959673 RCV003962090 RCV003971963 RCV003917150 RCV003917241 RCV003919386 RCV003927167 RCV003927183 RCV003941633 RCV003924595 RCV003951796 RCV003949655 RCV003949732 RCV003907399 RCV003931388 RCV003931402 RCV003931424 RCV003937046 RCV003958912 RCV003954679 RCV003956975 RCV003921996 RCV003922088 RCV003926880 RCV003932162 RCV003917366 RCV003924689 RCV003936906 RCV003956671 RCV003944702 RCV003979040 RCV003979091 RCV003964307 RCV003979279 RCV003971737 RCV003971502 RCV003976598 RCV003968970 RCV003969139 RCV003976317 RCV003976319 RCV003976336 RCV003972685 RCV003972686 RCV003912790 RCV003972687 RCV003972689 RCV003983065 RCV003972690 RCV003970256 RCV003925307 RCV003972691 RCV003970255 RCV003912791 RCV003972684 RCV003972688 RCV003913253 RCV003978309 RCV003915941 RCV003935887 RCV003915943 RCV003915944 RCV003903259 RCV003915863 RCV003916134 RCV003926226 RCV003928484 RCV003905833 RCV003935941 RCV003920808 RCV003940616 RCV003915942 RCV003960777
Lung cancer	Benign	rs147043611, rs9904115, rs73232344	RCV005929470 RCV005935422 RCV005935216
Malignant tumor of esophagus	Likely benign; Benign	rs144934136, rs73232344	RCV005929464 RCV005935210
Melanoma	Benign	rs147043611, rs73232344	RCV005929469 RCV005935215
Ovarian serous cystadenocarcinoma	Likely benign	rs144934136	RCV005929466
Primary microcephaly	Uncertain significance	rs370337265, rs765920479, rs867386906, rs144750756, rs2076564158, rs756045650	RCV001786464 RCV001786468 RCV001786466 RCV001786467 RCV001786465 RCV001786469
Thymoma	Benign	rs12185237, rs73232344	RCV005935340 RCV005935213
Thyroid cancer, nonmedullary, 1	Benign	rs9904115, rs73232344	RCV005935421 RCV005935214
Uterine carcinosarcoma	Likely benign	rs144934136	RCV005929467
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs144934136, rs9904115	RCV005929468 RCV005935423

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autosomal Recessive Primary Microcephaly	Associate	34402213
Carcinoma Renal Cell	Associate	26061684
Colonic Neoplasms	Associate	33428592
Leukemia Myelomonocytic Chronic	Associate	26648538

DNAH2 (dynein axonemal heavy chain 2)