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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8701
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal heavy chain 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAH11
Synonyms (NCBI Gene) Gene synonyms aliases	CILD7, DNAHBL, DNAHC11, DNHBL, DPL11
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p15.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs12537531	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs72655967	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657309	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657316	C>T	Pathogenic	Stop gained, coding sequence variant
rs72657321	C>T	Pathogenic	Stop gained, coding sequence variant
rs72657324	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs72657333	G>A	Pathogenic	Splice donor variant
rs72657354	G>A	Pathogenic	Splice donor variant
rs72657366	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657389	A>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72657393	C>T	Pathogenic	Stop gained, coding sequence variant
rs114286628	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908854	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained
rs121908855	C>G	Pathogenic	Coding sequence variant, stop gained
rs142585703	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149926178	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs183521702	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs191266255	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs200693106	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs201261243	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201618995	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201943194	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs202236144	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs367628980	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs368260932	C>T	Pathogenic	Coding sequence variant, stop gained
rs373844629	C>T	Pathogenic	Coding sequence variant, stop gained
rs373946181	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs374107286	C>T	Pathogenic	Coding sequence variant, stop gained
rs377691013	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387907258	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs532007878	C>A,T	Pathogenic	Splice donor variant
rs727503901	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753101269	C>T	Pathogenic	Stop gained, coding sequence variant
rs757013900	C>T	Pathogenic	Coding sequence variant, stop gained
rs757784023	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs759302236	G>A,T	Likely-pathogenic	Splice acceptor variant
rs759332741	->A	Pathogenic	Coding sequence variant, frameshift variant
rs761855200	C>T	Pathogenic	Coding sequence variant, stop gained
rs767595964	C>T	Pathogenic	Coding sequence variant, stop gained
rs771781357	->A	Pathogenic	Coding sequence variant, frameshift variant
rs773498002	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs774903187	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs775720394	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs781089233	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs797045085	C>T	Pathogenic	Coding sequence variant, stop gained
rs797045086	->TTG	Pathogenic	Coding sequence variant, stop gained, inframe insertion
rs878854435	T>A	Pathogenic	Coding sequence variant, stop gained
rs878854436	G>A	Likely-pathogenic	Intron variant
rs878854441	G>A	Pathogenic	Coding sequence variant, stop gained
rs878854444	G>A	Likely-pathogenic	Splice donor variant
rs878854445	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854446	C>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886039340	G>C	Likely-pathogenic, pathogenic	Splice donor variant
rs886039341	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs886042733	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886042735	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044152	A>G,T	Pathogenic	Splice acceptor variant
rs949492765	G>C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs972753865	T>C	Likely-pathogenic	Splice donor variant
rs1057519105	A>C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503041	G>A	Likely-pathogenic	Splice donor variant
rs1060503063	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060503064	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1156473739	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1164659091	G>T	Pathogenic	Coding sequence variant, stop gained
rs1175443221	G>A	Pathogenic	Splice donor variant
rs1178187217	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1190944498	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1237605731	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1275718084	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1286036654	C>T	Pathogenic	Stop gained, coding sequence variant
rs1309805676	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1327282449	G>C,T	Likely-pathogenic	Splice acceptor variant
rs1355068287	T>G	Likely-pathogenic	Missense variant, initiator codon variant
rs1554269295	TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554281038	G>A	Likely-pathogenic	Splice donor variant
rs1554282583	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554291973	A>G	Pathogenic	Splice acceptor variant
rs1554292398	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554293484	G>T	Likely-pathogenic	Splice acceptor variant
rs1554309352	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554314722	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562521048	GAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562590250	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1562684798	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583508118	->CTTTTGATGTTGAAGAAACAAGACATACCAGATTCAGCTTT	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1583567611	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583570354	A>G	Likely-pathogenic	Intron variant
rs1583647043	GGCTACAGGTAGGGTGTTGAATACTGCTCTCAAAAACTGTAGGTCTGTATTGTATTGTTTTCGAGTACAGCTTAGGATTCCTATGGGACATCTTGTTAAGCACGTTTCTCATGGCAGCTGTACTATATTTTATTCCCACTAACAACAGACAGGGGTTCTAATAAGCCTTTTTGTTTTAATTGGTAGACTTTATTTTTTATATCAAAGTTTATAGCAAAATCAACTGGCAGTACAAATAATTCCTATGTACTCTCT	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1583685951	GTGAGCCGGGAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1583806864	A>T	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019843	hsa-miR-375	Microarray	20215506
MIRT939567	hsa-miR-1267	CLIP-seq
MIRT939568	hsa-miR-1289	CLIP-seq
MIRT939569	hsa-miR-2467-3p	CLIP-seq
MIRT939570	hsa-miR-3198	CLIP-seq
MIRT939571	hsa-miR-338-3p	CLIP-seq
MIRT939572	hsa-miR-3975	CLIP-seq
MIRT939573	hsa-miR-4273	CLIP-seq
MIRT939574	hsa-miR-4294	CLIP-seq
MIRT939575	hsa-miR-4309	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT939577	hsa-miR-4530	CLIP-seq
MIRT939578	hsa-miR-4534	CLIP-seq
MIRT939579	hsa-miR-4652-3p	CLIP-seq
MIRT939580	hsa-miR-4677-5p	CLIP-seq
MIRT939581	hsa-miR-4775	CLIP-seq
MIRT939582	hsa-miR-4793-3p	CLIP-seq
MIRT939583	hsa-miR-508-5p	CLIP-seq
MIRT939584	hsa-miR-766	CLIP-seq
MIRT939585	hsa-miR-922	CLIP-seq
MIRT939586	hsa-miR-924	CLIP-seq
MIRT2213300	hsa-miR-3150a-5p	CLIP-seq
MIRT2213301	hsa-miR-3150b-5p	CLIP-seq
MIRT2213302	hsa-miR-4284	CLIP-seq
MIRT2213303	hsa-miR-4419a	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT2213304	hsa-miR-4459	CLIP-seq
MIRT2213305	hsa-miR-4510	CLIP-seq
MIRT2213306	hsa-miR-4638-5p	CLIP-seq
MIRT2213307	hsa-miR-4772-3p	CLIP-seq
MIRT2213308	hsa-miR-4779	CLIP-seq
MIRT2213309	hsa-miR-665	CLIP-seq
MIRT939567	hsa-miR-1267	CLIP-seq
MIRT2448385	hsa-miR-1273f	CLIP-seq
MIRT939568	hsa-miR-1289	CLIP-seq
MIRT2448386	hsa-miR-186	CLIP-seq
MIRT939570	hsa-miR-3198	CLIP-seq
MIRT939573	hsa-miR-4273	CLIP-seq
MIRT939574	hsa-miR-4294	CLIP-seq
MIRT939575	hsa-miR-4309	CLIP-seq
MIRT939576	hsa-miR-4423-5p	CLIP-seq
MIRT2448387	hsa-miR-4424	CLIP-seq
MIRT2213304	hsa-miR-4459	CLIP-seq
MIRT2448388	hsa-miR-4521	CLIP-seq
MIRT939578	hsa-miR-4534	CLIP-seq
MIRT2448389	hsa-miR-4639-3p	CLIP-seq
MIRT939579	hsa-miR-4652-3p	CLIP-seq
MIRT939580	hsa-miR-4677-5p	CLIP-seq
MIRT2213309	hsa-miR-665	CLIP-seq
MIRT939586	hsa-miR-924	CLIP-seq

Show/Hide all(43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003356	Process	Regulation of cilium beat frequency	IMP	18022865, 22184204, 22499950
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	31178125
GO:0005930	Component	Axoneme	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	12142464, 18022865, 22184204, 22499950
GO:0007507	Process	Heart development	IEA
GO:0007611	Process	Learning or memory	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:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	18492703
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0031514	Component	Motile cilium	IEA
GO:0035545	Process	Determination of left/right asymmetry in nervous system	IEA
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:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0097728	Component	9+0 motile cilium	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:0120134	Component	Proximal portion of axoneme	IDA	26909801
GO:0120134	Component	Proximal portion of axoneme	IEA
GO:0120229	Process	Protein localization to motile cilium	IMP	33139725

MIM	HGNC	e!Ensembl
603339	2942	ENSG00000105877

Protein

UniProt ID

Q96DT5

Protein name

Dynein axonemal heavy chain 11 (Axonemal beta dynein heavy chain 11) (Ciliary dynein heavy chain 11)

Protein function

Force generating protein of respiratory cilia. 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	240 → 812	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1316 → 1721	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1855 → 2181	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2346 → 2466	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2471 → 2649		Domain
PF17857	AAA_lid_1	2682 → 2781	AAA+ lid domain	Domain
PF12780	AAA_8	2825 → 3084	P-loop containing dynein motor region D4	Domain
PF12777	MT	3097 → 3441	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3466 → 3684	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3924 → 4045	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4059 → 4213	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4219 → 4514	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in airway ciliated epithelial cells (at protein level) (PubMed:31178125, PubMed:33139725). Not detected in spermatozoa (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:33139725}.

Sequence

MAAQVAAREARDFREAPTLRLTSGAGLEAVGAVELEEEEENEEEAAARRARSFAQDARVR
FLGGRLAMMLGFTEEKWSQYLESEDNRQVLGEFLESTSPACLVFSFAASGRLAASQEIPR
DANHKLVFISKKITESIGVNDFSQVVLFGELPALSLGHVSAFLDEILVPVLSNKNNHKSW
SCFTSQDMEYHIEVMKKKMYIFRGKMSRRTLLPIPTVAGKMDLDQNCSENKPPSNERIIL
HAIESVVIEWSHQIQEIIERDSVQRLLNGLHLSPQAELDFWMMRRENLSCIYDQLQAPVV
LKMVKILTTKQSSYFPTLKDIFLAVENALLEAQDVELYLRPLRRHIQCLQETEFPQTRIL
IAPLFHTICLIWSHSKFYNTPARVIVLLQEFCNLFINQATAYLSPEDLLRGEIEESLEKV
QVAVNILKTFKNSFFNYRKKLASYFMGRKLRPWDFQSHLVFCRFDKFLDRLIKIEDIFAT
TLEFEKLERLEFGGTKGAILNGQVHEMSEELMELCKLFKQSTYDPSDCTNMEFESDYVAF
KSKTLEFDRRLGTIICEAFFNCNGLEAAFKLLTIFGNFLEKPVVMEIFSLHYSTLVHMFN
TELDVCKQLYNEHMKQIECGHVVLNKNMPFTSGNMKWAQQVLQRLQMFWSNFASLRYLFL
GNPDHALVYQKYVEMTTLLDQFESRIYNEWKSNVDEICEFNLNQPLVKFSAINGLLCVNF
DPKLVAVLREVKYLLMLKKQDIPDSALAIFKKRNTILKYIGNLDLLVQGYNKLKQTLLEV
EYPLIEDELRAIDEQLTAATTWLTWQDDCWGYIERVRAATSELEHRVERTQKNVKVIQQT
MRGWARCVLPPRREHRREAAFTLEDKGDLFTKKYKLIQGDGCKIHNLVEENRKLFKANPS
LDTWKIYVEFIDDIVVEGFFQAIMHDLDFFLKNTEKQLKPAPFFQAQMILLPPEIVFKPS
LDREAGDGFYDLVEEMLCNSFRMSAQMNRIATHLEIKNYQNDMDNMLGLAEVRQEIMNRV
VNVINKVLDFRNTLETHTYLWVDDRAEFMKHFLLYGHAVSSDEMDAHANEEIPEQPPTLE
QFKEQIDIYEALYVQMSKFEDFRVFDSWFKVDMKPFKVSLLTIIKKWSWMFQEHLLRFVI
DSLNELQEFIKETDSGLQRELNEGDHDGLVDIMVHLLAVRSRQRATDELFEPLKETITLL
ESYGQKMPEQVYIQLEELPERWETTKKIAATVRHEVSPLHNAEVTLIRKKCILFDAKQAE
FRERFRHYAPLGFNAENPYTALDKANEELEALEEEMLQMQESTRLFEVALPEYKQMKQCR
KEIKLLKGLWDVIIYVRRSIDNWTKTQWRQIHVEQMDVELRRFAKEIWSLNKEVRVWDAY
TGLEGTVKDMTASLRAITELQSPALRDRHWHQLMKAIGVKFLINEATTLADLLALRLHRV
EDDVRRIVDKAVKELGTEKVITEISQTWATMKFSYEVHYRTGIPLLKSDEQLFETLEHNQ
VQLQTLLQSKYVEYFIEQVLSWQNKLNIADLVIFTWMEVQRTWSHLESIFVCSEDIRIQL
VKDARRFDGVDAEFKELMFKTAKVENVLEATCRPNLYEKLKDLQSRLSLCEKALAEYLET
KRIAFPRFYFVSSADLLDILSKGAQPKQVTCHLAKLFDSIADLQFEDNQDVSAHRAVGMY
SKEKEYVPFQAECECVGHVETWLLQLEQTMQETVRHSITEAIVAYEEKPRELWIFDFPAQ
VALTSSQIWWTTDVGIAFSRLEEGYETALKDFHKKQISQLNTLITLLLGELPPGDRQKIM
TICTIDVHARDVVAKLISQKVVSPQAFTWLSQLRHRWEDTQKHCFVNICDAQFQYFYEYL
GNSPRLVITPLTDRCYITLTQSLHLTMSGAPAGPAGTGKTETTKDLGRALGMMVYVFNCS
EQMDYKSIGNIYKGLVQTGAWGCFDEFNRISVEVLSVVAVQVKMIHDAIRNRKKRFVFLG
EAITLKPSVGIFITMNPGYAGRTELPENLKALFRPCAMVAPDIELICEILLVAEGFVDAR
ALARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDKNRPEDQVLMRALRDF
NMPKIVTDDIPVFLGLVGDLFPALDVPRRRKLHFEQMVRQSTLELRLQPEESFILKVVQL
EELLAVRHSVFVVGNAGTGKSKILRTLNRTYVNMKQKPVWNDLNPKAVTTDELFGFIHHA
TREWKDGKIVYSYFIGLFSSILREQANLKHDGPKWIVLDGDIDPMWIESLNTVMDDNKVL
TLASNERIALTPFMRLLFEIHHLRSATPATVSRAGILYVNPQDLGWNPYVASWIDRRRHQ
SEKANLTILFDKYVPACLDKLRTSFKTITSIPESSLVQTLCVLLECLLTPENVPSDSPKE
VYEVYFVFACIWAFGGTLLQDQISDYQADFSRWWQKEMKAVKFPSQGTIFDYYVDHKTKK
LLPWADKIAQFTMDPDVPLQTVLVHTTETARLRYFMELLLEKGKPLMLVGNAGVGKTVFV
GDTLASLSEDYIVSRVPFNYYTTSTALQKILEKPLEKKAGHNYGPGGNKKLIYFIDDMNM
PEVDLYGTVQPHTLIRQHIDYGHWYDRQKVMLKEIHNCQYVACMNPMVGSFTINPRLQRH
FTVFAFNFPSLDALNTIYGQIFSFHFQQQAFAPSILRSGPTLIQATIAFHQTMMCNFLPT
AIKFHYIFNLRDLSNVFQGILFASPECLKGPLDLIHLWLHESARVYGDKLIDKKDCDLFQ
RRMLETAYKYFEGIDSHMLLQQPLIYCHFADRGKDPHYMPVKDWEVLKTILTETLDNYNE
LNAAMHLVLFEDAMQHVCRISRILRTPQGCALLVGVGGSGKQSLSRLAAYLRGLEVFQIT
LTEGYGIQELRVDLANLYIRTGAKNMPTVFLLTDAQVLDESFLVLINDLLASGEIPDLFS
DEDVDKIISGIHNEVHALGMVDSRENCWKFFMARVRLQLKIILCFSPVGRTLRVRARKFP
AIVNCTAIDWFHAWPQEALVSVSRRFIEETKGIEPVHKDSISLFMAHVHTTVNEMSTRYY
QNERRHNYTTPKSFLEQISLFKNLLKKKQNEVSEKKERLVNGIQKLKTTASQVGDLKARL
ASQEAELQLRNHDAEALITKIGLQTEKVSREKTIADAEERKVTAIQTEVFQKQRECEADL
LKAEPALVAATAALNTLNRVNLSELKAFPNPPIAVTNVTAAVMVLLAPRGRVPKDRSWKA
AKVFMGKVDDFLQALINYDKEHIPENCLKVVNEHYLKDPEFNPNLIRTKSFAAAGLCAWV
INIIKFYEVYCDVEPKRQALAQANLELAAATEKLEAIRKKLVDLDRNLSRLTASFEKATA
EKVRCQEEVNQTNKTIKLANRLVKELEAKKIRWGQSIKSFEAQEKTLCGDVLLTAAFVSY
VGPFTRQYRQELVHCKWVPFLQQKVSIPLTEGLDLISMLTDDATIAAWNNEGLPSDRMST
ENAAILTHCERWPLVIDPQQQGIKWIKNKYGMDLKVTHLGQKGFLNAIETALAFGDVILI
ENLEETIDPVLDPLLGRNTIKKGKYIRIGDKECEFNKNFRLILHTKLANPHYKPELQAQT
TLLNFTVTEDGLEAQLLAEVVSIERPDLEKLKLVLTKHQNDFKIELKYLEDDLLLRLSAA
EGSFLDDTKLVERLEATKTTVAEIEHKVIEAKENERKINEARECYRPVAARASLLYFVIN
DLQKINPLYQFSLKAFNVLFHRAIEQADKVEDMQGRISILMESITHAVFLYTSQALFEKD
KLTFLSQMAFQILLRKKEIDPLELDFLLRFTVEHTHLSPVDFLTSQSWSAIKAIAVMEEF
RGIDRDVEGSAKQWRKWVESECPEKEKLPQEWKKKSLIQKLILLRAMRPDRMTYALRNFV
EEKLGAKYVERTRLDLVKAFEESSPATPIFFILSPGVDALKDLEILGKRLGFTIDSGKFH
NVSLGQGQETVAEVALEKASKGGHWVILQNVHLVAKWLGTLEKLLERFSQGSHRDYRVFM
SAESAPTPDEHIIPQGLLENSIKITNEPPTGMLANLHAALYNFDQDTLEICSKEQEFKSI
LFSLCYFHACVAGRLRFGPQGWSRSYPFNPGDLTICASVLYNYLEANSKVPWEDLRYLFG
EIMYGGHITDDWDRKLCRVYLEEFMNPSLTEDELMLAPGFAAPPYLDYAGYHQYIEEMLP
PESPALYGLHPNAEIEFLTVTSNTLFRTLLEMQPRNALSGDELGQSTEEKVKNVLDDILE
KLPEEFNMAEIMQKNSNRSPYVLVCFQECERMNILIREIRISLEQLDLSLKGELALSPAV
EAQQFALSYDTVPDTWSKLAYPSTYGLAQWFNDLLLRCRELDTWTQDLTLPAVVWLSGFF
NPQSFLTAIMQTMARKNEWPLDKTRLTADVTKKTKEDYGHPPREGAYLHGLFMEGARWDT
QAGTIVEARLKELACPMPVIFAKATPVDRQETKQTYECPVYRTKLRGPSYIWTFRLKSEE
KTAKWVLAGVALLLEA

Sequence length

4516

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	Primary ciliary dyskinesia 7, primary ciliary dyskinesia	rs1784195520, rs374107286, rs1286036654, rs200693106, rs878854435, rs949492765, rs1212535211, rs1554292398, rs1060503056, rs121908855, rs72658823, rs878854441, rs1788086604, rs1562521048, rs72657333 View all (82 more)	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Hypertension	Ischemic stroke in hypertension	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
male infertility	Male infertility	N/A	N/A	ClinVar
Metabolic Syndrome	Serum total polyunsaturated fatty acid concentration in metabolic syndrome, Serum omega-6 polyunsaturated fatty acid concentration in metabolic syndrome	N/A	N/A	GWAS
Multiple myeloma	Multiple myeloma	N/A	N/A	GWAS
Pelvic Organ Prolapse	Pelvic organ prolapse	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	32633470
Androgen Insensitivity Syndrome	Associate	34833359
Asthenozoospermia	Associate	31160482, 39256880
Breast Neoplasms	Associate	30947698
Bronchiectasis	Associate	22184204
Carcinoma in Situ	Associate	22184204
CHARGE Syndrome	Associate	30359267
Ciliary Dyskinesia Primary 7	Associate	33243178
Ciliary Motility Disorders	Associate	12142464, 18434704, 22184204, 22499950, 24450482, 25186273, 26909801, 27637300, 29467202, 30359267, 31160482, 32357925, 32633470, 33243178, 33479112 View all (11 more)
Colorectal Neoplasms	Associate	33714943, 37214090
Congenital Abnormalities	Associate	26909801
Cough	Associate	33243178
Diabetic Retinopathy	Associate	38194422
Disease	Associate	36140829
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	24450482
Dyslexia	Associate	32357925
Esophageal Squamous Cell Carcinoma	Associate	31053115
Heart Defects Congenital	Associate	31040315, 34133440
Heterotaxy Syndrome	Associate	22499950, 31040315, 32633470, 34133440
Hyperkinesis	Associate	22499950, 26909801
Hypogonadism	Associate	33574797
Infertility Male	Associate	31160482, 33574797, 39256880
Inflammation	Associate	38194422
Kartagener Syndrome	Associate	12142464, 32847546
Laterality Defects Autosomal Dominant	Associate	37088965
Monoclonal Gammopathy of Undetermined Significance	Associate	24449210
Moyamoya Disease	Associate	32847546
Multiple Myeloma	Associate	22120009, 24449210, 27882933
Myopathies Structural Congenital	Associate	30359267
Neoplasms	Associate	23103227
Neoplastic Syndromes Hereditary	Associate	30947698
Noonan Syndrome	Associate	30359267
Ovarian Neoplasms	Associate	24528012
Respiratory Distress Syndrome Newborn	Associate	33479112
Respiratory Insufficiency	Associate	39256880
Rhinitis	Associate	37088965
Sarcoidosis	Associate	29510755
Situs Inversus	Associate	12142464, 32357925
Stomach Neoplasms	Associate	29923336
Transposition of Great Vessels	Associate	36140829

DNAH11 (dynein axonemal heavy chain 11)