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.	1767
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal heavy chain 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAH5
Synonyms (NCBI Gene) Gene synonyms aliases	CILD3, DNAHC5, HL1, KTGNR, PCD
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase

Show/Hide all(184)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77939839	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs78484669	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs79967166	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs112217391	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs116128702	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs116524991	C>A,T	Likely-benign, pathogenic	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant, non coding transcript variant
rs121908853	G>A,C	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs138890576	A>G	Pathogenic, likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs140782270	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs141571121	T>C	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs142852982	T>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs146087064	G>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs146392250	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs147236883	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs147688221	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, intron variant, genic downstream transcript variant
rs148720124	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs148891849	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs200901816	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs201077964	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs367877988	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs367913308	T>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs369312501	T>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs369683202	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs372118787	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs374718437	C>T	Pathogenic	Intron variant, genic downstream transcript variant
rs375053470	G>A	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, stop gained
rs397515540	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs397515541	C>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs548521732	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs560398270	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs565076112	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs571919972	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs574586008	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs575017579	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs578128759	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs672601333	->A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs727502971	GTCT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs727502973	G>C	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs727502974	T>C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs727502975	GCCGCCCCCGCGCTCCACAGC>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs727502977	C>-	Pathogenic-likely-pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs727504802	C>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs745885469	C>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs745918507	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs747900131	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748171209	T>C	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, intron variant
rs748618094	T>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748763552	A>G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs749082955	->T	Pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, frameshift variant
rs750649191	C>A	Pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs751785066	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs752925056	->T	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs753130398	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs753397685	C>A,G,T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs753614861	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs754698253	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs754982008	A>C	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs755136231	TTTGGTTC>-	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755407407	C>G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs755490391	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant
rs755596256	C>A,T	Pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs756032160	G>A	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs757801770	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs759059925	C>A,T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs760595654	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, 3 prime UTR variant
rs760742856	TGAG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs761622153	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs762081081	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs762673561	C>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs764948792	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs766451124	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs767019228	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs767716511	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs767779749	AG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs768881056	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs769054713	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs769267893	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs769458738	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs769691189	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs769691641	A>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs771663107	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs771956532	G>A,C,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant, 5 prime UTR variant
rs772230378	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, genic upstream transcript variant
rs773208371	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs773711154	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs774493427	AA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs775696136	->A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs775866092	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs775946081	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs776686983	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs778780449	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs779506456	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs781469274	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs863224503	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863224504	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs864622512	->A	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs878854457	C>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs878854458	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878854459	A>G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886039500	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs886043448	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs886059965	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs914675446	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs981267400	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs989235687	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1057520697	C>A	Pathogenic	Splice acceptor variant
rs1060501454	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1060501455	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060501456	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1060501457	CC>T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060501458	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1060501459	->AT	Pathogenic	Genic downstream transcript variant, downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1060501460	A>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1060501461	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060501464	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1060501466	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1060501467	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1064795496	C>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1161303371	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1164037667	T>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1175877764	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1188507108	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1193586811	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1252973555	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1273352530	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1283070426	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1285287334	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1304504006	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1305797678	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, frameshift variant
rs1309660408	G>A,C	Pathogenic	Missense variant, downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1353723750	CTTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1354919632	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1370489117	C>-	Pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1391084505	CTGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1443540935	CTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, terminator codon variant
rs1462578042	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1474945018	T>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1484826593	A>C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554017211	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554020233	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554033855	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554035330	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554049087	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554050517	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554062097	GTCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554072027	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554074565	G>C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, intron variant
rs1554081658	G>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1554082275	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554082872	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090622	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554090927	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1554101045	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561073938	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1561097225	C>G	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1561122898	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant
rs1561215953	T>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1561241156	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1561449604	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1561476089	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561477725	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1561487416	->CA	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1561524235	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1561532139	AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAAT	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, splice donor variant
rs1579881985	CT>-	Pathogenic	Intron variant, frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs1579894454	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1579942226	T>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579942510	G>T	Pathogenic	Intron variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1579980919	GGTACTTG>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580072662	TTGTGTCTGCATC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580143916	ATTC>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, downstream transcript variant
rs1580150353	G>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1580179985	A>G	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1580180757	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1580203399	C>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1580363231	ACAGCCGCCCCAGGT>G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1580457416	CA>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, inframe indel
rs1580465796	T>C	Likely-pathogenic	Splice acceptor variant
rs1580543538	G>C	Pathogenic	Intron variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1580543863	->T	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1580578744	A>T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1580731750	CGCT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1580809557	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1580853061	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant

Show/Hide all(9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022734	hsa-miR-124-3p	Microarray	18668037
MIRT939592	hsa-miR-1290	CLIP-seq
MIRT939593	hsa-miR-1304	CLIP-seq
MIRT939594	hsa-miR-3167	CLIP-seq
MIRT939595	hsa-miR-3616-3p	CLIP-seq
MIRT939596	hsa-miR-3691-5p	CLIP-seq
MIRT939597	hsa-miR-4721	CLIP-seq
MIRT939598	hsa-miR-4752	CLIP-seq
MIRT939599	hsa-miR-876-5p	CLIP-seq

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	11062149, 15750039, 16627867, 23261302
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IDA	29916806
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	15750039, 16492982, 18950741, 23849778, 24203976, 26387594, 26909801, 29916806, 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	11788826, 17515466, 22499950
GO:0007507	Process	Heart development	IEA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IBA
GO:0008569	Function	Minus-end-directed microtubule motor activity	IEA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	15750039, 18492703
GO:0031514	Component	Motile cilium	IDA	31178125
GO:0036157	Component	Outer dynein arm	IBA
GO:0036157	Component	Outer dynein arm	IDA	16627867
GO:0036157	Component	Outer dynein arm	IEA
GO:0036157	Component	Outer dynein arm	IMP	11062149, 11788826, 22499950
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	11062149, 11788826, 15750039, 16627867, 18950741, 22499950, 23261302
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:0060271	Process	Cilium assembly	IMP	16492982
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0097386	Component	Glial cell projection	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

MIM	HGNC	e!Ensembl
603335	2950	ENSG00000039139

Protein

UniProt ID

Q8TE73

Protein name

Dynein axonemal heavy chain 5 (Axonemal beta dynein heavy chain 5) (Ciliary dynein heavy chain 5)

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. Required for structural and functional inte

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08385	DHC_N1	250 → 802	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1402 → 1807	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1942 → 2269	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2424 → 2544	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2551 → 2732		Domain
PF17857	AAA_lid_1	2766 → 2862	AAA+ lid domain	Domain
PF12780	AAA_8	2926 → 3188	P-loop containing dynein motor region D4	Domain
PF12777	MT	3201 → 3549	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3574 → 3795	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	4040 → 4150	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4164 → 4320	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4326 → 4621	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

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

Sequence

MFRIGRRQLWKHSVTRVLTQRLKGEKEAKRALLDARHNYLFAIVASCLDLNKTEVEDAIL
EGNQIERIDQLFAVGGLRHLMFYYQDVEEAETGQLGSLGGVNLVSGKIKKPKVFVTEGND
VALTGVCVFFIRTDPSKAITPDNIHQEVSFNMLDAADGGLLNSVRRLLSDIFIPALRATS
HGWGELEGLQDAANIRQEFLSSLEGFVNVLSGAQESLKEKVNLRKCDILELKTLKEPTDY
LTLANNPETLGKIEDCMKVWIKQTEQVLAENNQLLKEADDVGPRAELEHWKKRLSKFNYL
LEQLKSPDVKAVLAVLAAAKSKLLKTWREMDIRITDATNEAKDNVKYLYTLEKCCDPLYS
SDPLSMMDAIPTLINAIKMIYSISHYYNTSEKITSLFVKVTNQIISACKAYITNNGTASI
WNQPQDVVEEKILSAIKLKQEYQLCFHKTKQKLKQNPNAKQFDFSEMYIFGKFETFHRRL
AKIIDIFTTLKTYSVLQDSTIEGLEDMATKYQGIVATIKKKEYNFLDQRKMDFDQDYEEF
CKQTNDLHNELRKFMDVTFAKIQNTNQALRMLKKFERLNIPNLGIDDKYQLILENYGADI
DMISKLYTKQKYDPPLARNQPPIAGKILWARQLFHRIQQPMQLFQQHPAVLSTAEAKPII
RSYNRMAKVLLEFEVLFHRAWLRQIEEIHVGLEASLLVKAPGTGELFVNFDPQILILFRE
TECMAQMGLEVSPLATSLFQKRDRYKRNFSNMKMMLAEYQRVKSKIPAAIEQLIVPHLAK
VDEALQPGLAALTWTSLNIEAYLENTFAKIKDLELLLDRVNDLIEFRIDAILEEMSSTPL
CQLPQEEPLTCEEFLQMTKDLCVNGAQILHFKSSLVEEAVNELVNMLLDVEVLSEEESEK
ISNENSVNYKNESSAKREEGNFDTLTSSINARANALLLTTVTRKKKETEMLGEEARELLS
HFNHQNMDALLKVTRNTLEAIRKRIHSSHTINFRDSNSASNMKQNSLPIFRASVTLAIPN
IVMAPALEDVQQTLNKAVECIISVPKGVRQWSSELLSKKKIQERKMAALQSNEDSDSDVE
MGENELQDTLEIASVNLPIPVQTKNYYKNVSENKEIVKLVSVLSTIINSTKKEVITSMDC
FKRYNHIWQKGKEEAIKTFITQSPLLSEFESQILYFQNLEQEINAEPEYVCVGSIALYTA
DLKFALTAETKAWMVVIGRHCNKKYRSEMENIFMLIEEFNKKLNRPIKDLDDIRIAMAAL
KEIREEQISIDFQVGPIEESYALLNRYGLLIAREEIDKVDTLHYAWEKLLARAGEVQNKL
VSLQPSFKKELISAVEVFLQDCHQFYLDYDLNGPMASGLKPQEASDRLIMFQNQFDNIYR
KYITYTGGEELFGLPATQYPQLLEIKKQLNLLQKIYTLYNSVIETVNSYYDILWSEVNIE
KINNELLEFQNRCRKLPRALKDWQAFLDLKKIIDDFSECCPLLEYMASKAMMERHWERIT
TLTGHSLDVGNESFKLRNIMEAPLLKYKEEIEDICISAVKERDIEQKLKQVINEWDNKTF
TFGSFKTRGELLLRGDSTSEIIANMEDSLMLLGSLLSNRYNMPFKAQIQKWVQYLSNSTD
IIESWMTVQNLWIYLEAVFVGGDIAKQLPKEAKRFSNIDKSWVKIMTRAHEVPSVVQCCV
GDETLGQLLPHLLDQLEICQKSLTGYLEKKRLCFPRFFFVSDPALLEILGQASDSHTIQA
HLLNVFDNIKSVKFHEKIYDRILSISSQEGETIELDKPVMAEGNVEVWLNSLLEESQSSL
HLVIRQAAANIQETGFQLTEFLSSFPAQVGLLGIQMIWTRDSEEALRNAKFDKKIMQKTN
QAFLELLNTLIDVTTRDLSSTERVKYETLITIHVHQRDIFDDLCHMHIKSPMDFEWLKQC
RFYFNEDSDKMMIHITDVAFIYQNEFLGCTDRLVITPLTDRCYITLAQALGMSMGGAPAG
PAGTGKTETTKDMGRCLGKYVVVFNCSDQMDFRGLGRIFKGLAQSGSWGCFDEFNRIDLP
VLSVAAQQISIILTCKKEHKKSFIFTDGDNVTMNPEFGLFLTMNPGYAGRQELPENLKIN
FRSVAMMVPDRQIIIRVKLASCGFIDNVVLARKFFTLYKLCEEQLSKQVHYDFGLRNILS
VLRTLGAAKRANPMDTESTIVMRVLRDMNLSKLIDEDEPLFLSLIEDLFPNILLDKAGYP
ELEAAISRQVEEAGLINHPPWKLKVIQLFETQRVRHGMMTLGPSGAGKTTCIHTLMRAMT
DCGKPHREMRMNPKAITAPQMFGRLDVATNDWTDGIFSTLWRKTLRAKKGEHIWIILDGP
VDAIWIENLNSVLDDNKTLTLANGDRIPMAPNCKIIFEPHNIDNASPATVSRNGMVFMSS
SILDWSPILEGFLKKRSPQEAEILRQLYTESFPDLYRFCIQNLEYKMEVLEAFVITQSIN
MLQGLIPLKEQGGEVSQAHLGRLFVFALLWSAGAALELDGRRRLELWLRSRPTGTLELPP
PAGPGDTAFDYYVAPDGTWTHWNTRTQEYLYPSDTTPEYGSILVPNVDNVRTDFLIQTIA
KQGKAVLLIGEQGTAKTVIIKGFMSKYDPECHMIKSLNFSSATTPLMFQRTIESYVDKRM
GTTYGPPAGKKMTVFIDDVNMPIINEWGDQVTNEIVRQLMEQNGFYNLEKPGEFTSIVDI
QFLAAMIHPGGGRNDIPQRLKRQFSIFNCTLPSEASVDKIFGVIGVGHYCTQRGFSEEVR
DSVTKLVPLTRRLWQMTKIKMLPTPAKFHYVFNLRDLSRVWQGMLNTTSEVIKEPNDLLK
LWKHECKRVIADRFTVSSDVTWFDKALVSLVEEEFGEEKKLLVDCGIDTYFVDFLRDAPE
AAGETSEEADAETPKIYEPIESFSHLKERLNMFLQLYNESIRGAGMDMVFFADAMVHLVK
ISRVIRTPQGNALLVGVGGSGKQSLTRLASFIAGYVSFQITLTRSYNTSNLMEDLKVLYR
TAGQQGKGITFIFTDNEIKDESFLEYMNNVLSSGEVSNLFARDEIDEINSDLASVMKKEF
PRCLPTNENLHDYFMSRVRQNLHIVLCFSPVGEKFRNRALKFPALISGCTIDWFSRWPKD
ALVAVSEHFLTSYDIDCSLEIKKEVVQCMGSFQDGVAEKCVDYFQRFRRSTHVTPKSYLS
FIQGYKFIYGEKHVEVRTLANRMNTGLEKLKEASESVAALSKELEAKEKELQVANDKADM
VLKEVTMKAQAAEKVKAEVQKVKDRAQAIVDSISKDKAIAEEKLEAAKPALEEAEAALQT
IRPSDIATVRTLGRPPHLIMRIMDCVLLLFQRKVSAVKIDLEKSCTMPSWQESLKLMTAG
NFLQNLQQFPKDTINEEVIEFLSPYFEMPDYNIETAKRVCGNVAGLCSWTKAMASFFSIN
KEVLPLKANLVVQENRHLLAMQDLQKAQAELDDKQAELDVVQAEYEQAMTEKQTLLEDAE
RCRHKMQTASTLISGLAGEKERWTEQSQEFAAQTKRLVGDVLLATAFLSYSGPFNQEFRD
LLLNDWRKEMKARKIPFGKNLNLSEMLIDAPTISEWNLQGLPNDDLSIQNGIIVTKASRY
PLLIDPQTQGKIWIKNKESRNELQITSLNHKYFRNHLEDSLSLGRPLLIEDVGEELDPAL
DNVLERNFIKTGSTFKVKVGDKEVDVLDGFRLYITTKLPNPAYTPEISARTSIIDFTVTM
KGLEDQLLGRVILTEKQELEKERTHLMEDVTANKRRMKELEDNLLYRLTSTQGSLVEDES
LIVVLSNTKRTAEEVTQKLEISAETEVQINSAREEYRPVATRGSILYFLITEMRLVNEMY
QTSLRQFLGLFDLSLARSVKSPITSKRIANIIEHMTYEVYKYAARGLYEEHKFLFTLLLT
LKIDIQRNRVKHEEFLTLIKGGASLDLKACPPKPSKWILDITWLNLVELSKLRQFSDVLD
QISRNEKMWKIWFDKENPEEEPLPNAYDKSLDCFRRLLLIRSWCPDRTIAQARKYIVDSM
GEKYAEGVILDLEKTWEESDPRTPLICLLSMGSDPTDSIIALGKRLKIETRYVSMGQGQE
VHARKLLQQTMANGGWALLQNCHLGLDFMDELMDIIIETELVHDAFRLWMTTEAHKQFPI
TLLQMSIKFANDPPQGLRAGLKRTYSGVSQDLLDVSSGSQWKPMLYAVAFLHSTVQERRK
FGALGWNIPYEFNQADFNATVQFIQNHLDDMDVKKGVSWTTIRYMIGEIQYGGRVTDDYD
KRLLNTFAKVWFSENMFGPDFSFYQGYNIPKCSTVDNYLQYIQSLPAYDSPEVFGLHPNA
DITYQSKLAKDVLDTILGIQPKDTSGGGDETREAVVARLADDMLEKLPPDYVPFEVKERL
QKMGPFQPMNIFLRQEIDRMQRVLSLVRSTLTELKLAIDGTIIMSENLRDALDCMFDARI
PAWWKKASWISSTLGFWFTELIERNSQFTSWVFNGRPHCFWMTGFFNPQGFLTAMRQEIT
RANKGWALDNMVLCNEVTKWMKDDISAPPTEGVYVYGLYLEGAGWDKRNMKLIESKPKVL
FELMPVIRIYAENNTLRDPRFYSCPIYKKPVRTDLNYIAAVDLRTAQTPEHWVLRGVALL
CDVK

Sequence length

4624

Interactions

View interactions

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

Show/Hide Causal Diseases (4)

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, Primary ciliary dyskinesia 3, Primary Ciliary Dyskinesia (DNAH5-related)	rs755596256, rs1193586811, rs148139814, rs397515541, rs548521732, rs1252973555, rs1060501466, rs1561524235, rs1474945018, rs750649191, rs369683202, rs138890576, rs1561097225, rs863224503, rs375053470 View all (177 more)	N/A
Heterotaxia	Heterotaxy	rs775946081, rs1060501464	N/A
Kartagener Syndrome	kartagener syndrome	rs773208371, rs771663107, rs1554082275	N/A
male infertility	Male infertility	rs748618094	N/A

Show/Hide Unknown Diseases (4)

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.
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Neuroblastoma	Neuroblastoma	N/A	N/A	GWAS
Situs Inversus	situs inversus	N/A	N/A	ClinVar
Strabismus	Strabismus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	35637434, 40183343
Arm Injuries	Associate	15750039
Asthenozoospermia	Associate	32664073
Asthma	Associate	21912604
Bronchiectasis	Associate	27988889, 38206729
Carcinoma Hepatocellular	Associate	38022557
Carcinoma Renal Cell	Associate	26061684
Ciliary Motility Disorders	Associate	15750039, 16055928, 16627867, 18434704, 23477994, 25066065, 25134640, 25186273, 27637300, 27779714, 28927820, 29402277, 30300419, 31118369, 31443223 View all (16 more)
Dyslexia	Associate	32357925
Esophageal Squamous Cell Carcinoma	Associate	28694483, 35899307
Genetic Diseases Inborn	Associate	32470793
Hypogonadism	Associate	33574797
Ige Responsiveness Atopic	Associate	28927820
Infertility Male	Associate	32664073, 33574797
Kartagener Syndrome	Associate	27988889, 31443223, 32847546
Leukemia Myeloid Acute	Associate	34482403
Melanoma	Associate	32241263
Moyamoya Disease	Associate	32847546
Multiple Myeloma	Associate	22573403, 33950175
Neoplasm Metastasis	Associate	31341365
Neoplasms	Associate	31341365, 38022557
Neurodevelopmental Disorders	Associate	38206729
Nevus Sebaceous of Jadassohn	Associate	36552777
Proteinuria	Associate	34616010
Pulmonary Disease Chronic Obstructive	Associate	25134640
Situs Inversus	Associate	32357925
Vitiligo	Associate	23678272

DNAH5 (dynein axonemal heavy chain 5)