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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8632
Gene name	Dynein axonemal heavy chain 17
Gene symbol	DNAH17
Synonyms (NCBI Gene)	DNAHL1DNEL2SPGF39
Chromosome	17
Chromosome location	17q25.3
Summary	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs767723684	TA>-	Pathogenic	Stop gained, non coding transcript variant, inframe indel, coding sequence variant, genic upstream transcript variant
rs768564744	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1418782829	A>G	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1598474055	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1598525781	GCTGTGGAAAATAAGAGTC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

200

Show/Hide all (200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT613407	hsa-miR-1911-3p	HITS-CLIP	23824327
MIRT613406	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT613405	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT613404	hsa-miR-4733-3p	HITS-CLIP	23824327
MIRT613403	hsa-miR-4514	HITS-CLIP	23824327
MIRT613402	hsa-miR-4692	HITS-CLIP	23824327
MIRT613401	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT613400	hsa-miR-4673	HITS-CLIP	23824327
MIRT613399	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT613398	hsa-miR-4481	HITS-CLIP	23824327
MIRT613397	hsa-miR-4745-5p	HITS-CLIP	23824327
MIRT613396	hsa-miR-1238-5p	HITS-CLIP	23824327
MIRT613395	hsa-miR-4758-5p	HITS-CLIP	23824327
MIRT613394	hsa-miR-4658	HITS-CLIP	23824327
MIRT613393	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT613392	hsa-miR-8081	HITS-CLIP	23824327
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	20371350
MIRT514354	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT514352	hsa-miR-8073	PAR-CLIP	20371350
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT514350	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT514338	hsa-miR-3689c	PAR-CLIP	20371350
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT514334	hsa-miR-3122	PAR-CLIP	20371350
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT514332	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	20371350
MIRT514354	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT514352	hsa-miR-8073	PAR-CLIP	20371350
MIRT514353	hsa-miR-6089	PAR-CLIP	20371350
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT514350	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT514338	hsa-miR-3689c	PAR-CLIP	20371350
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT514334	hsa-miR-3122	PAR-CLIP	20371350
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT514332	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	23446348
MIRT514354	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT514352	hsa-miR-8073	PAR-CLIP	23446348
MIRT514353	hsa-miR-6089	PAR-CLIP	23446348
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT514350	hsa-miR-149-3p	PAR-CLIP	23446348
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	23446348
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	23446348
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	23446348
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	23446348
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	23446348
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	23446348
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	23446348
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	23446348
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	23446348
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	23446348
MIRT514338	hsa-miR-3689c	PAR-CLIP	23446348
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	23446348
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	23446348
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	23446348
MIRT514334	hsa-miR-3122	PAR-CLIP	23446348
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	23446348
MIRT514332	hsa-miR-887-5p	PAR-CLIP	23446348
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT494113	hsa-miR-2278	PAR-CLIP	23592263
MIRT494112	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT494111	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT494110	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT494109	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT494108	hsa-miR-3960	PAR-CLIP	23592263
MIRT494106	hsa-miR-8072	PAR-CLIP	23592263
MIRT494107	hsa-miR-4767	PAR-CLIP	23592263
MIRT494105	hsa-miR-4467	PAR-CLIP	23592263
MIRT494104	hsa-miR-4279	PAR-CLIP	23592263
MIRT613407	hsa-miR-1911-3p	HITS-CLIP	23824327
MIRT613406	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT613405	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT613404	hsa-miR-4733-3p	HITS-CLIP	23824327
MIRT613403	hsa-miR-4514	HITS-CLIP	23824327
MIRT613402	hsa-miR-4692	HITS-CLIP	23824327
MIRT613401	hsa-miR-4645-5p	HITS-CLIP	23824327
MIRT613400	hsa-miR-4673	HITS-CLIP	23824327
MIRT613399	hsa-miR-17-3p	HITS-CLIP	23824327
MIRT613398	hsa-miR-4481	HITS-CLIP	23824327
MIRT613397	hsa-miR-4745-5p	HITS-CLIP	23824327
MIRT613396	hsa-miR-1238-5p	HITS-CLIP	23824327
MIRT613395	hsa-miR-4758-5p	HITS-CLIP	23824327
MIRT613394	hsa-miR-4658	HITS-CLIP	23824327
MIRT613393	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT613392	hsa-miR-8081	HITS-CLIP	23824327
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	20371350
MIRT514354	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT514352	hsa-miR-8073	PAR-CLIP	20371350
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT514350	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT514338	hsa-miR-3689c	PAR-CLIP	20371350
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT514334	hsa-miR-3122	PAR-CLIP	20371350
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT514332	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	20371350
MIRT514354	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT514352	hsa-miR-8073	PAR-CLIP	20371350
MIRT514353	hsa-miR-6089	PAR-CLIP	20371350
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT514350	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	20371350
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	20371350
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	20371350
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	20371350
MIRT514338	hsa-miR-3689c	PAR-CLIP	20371350
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	20371350
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	20371350
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	20371350
MIRT514334	hsa-miR-3122	PAR-CLIP	20371350
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	20371350
MIRT514332	hsa-miR-887-5p	PAR-CLIP	20371350
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	20371350
MIRT514355	hsa-miR-500a-5p	PAR-CLIP	23446348
MIRT514354	hsa-miR-221-5p	PAR-CLIP	23446348
MIRT514352	hsa-miR-8073	PAR-CLIP	23446348
MIRT514353	hsa-miR-6089	PAR-CLIP	23446348
MIRT514351	hsa-miR-7106-5p	PAR-CLIP	23446348
MIRT514350	hsa-miR-149-3p	PAR-CLIP	23446348
MIRT514349	hsa-miR-4728-5p	PAR-CLIP	23446348
MIRT514348	hsa-miR-6785-5p	PAR-CLIP	23446348
MIRT514347	hsa-miR-6883-5p	PAR-CLIP	23446348
MIRT514345	hsa-miR-6799-5p	PAR-CLIP	23446348
MIRT514346	hsa-miR-30c-1-3p	PAR-CLIP	23446348
MIRT514344	hsa-miR-30c-2-3p	PAR-CLIP	23446348
MIRT514343	hsa-miR-6788-5p	PAR-CLIP	23446348
MIRT514342	hsa-miR-1273h-5p	PAR-CLIP	23446348
MIRT514341	hsa-miR-30b-3p	PAR-CLIP	23446348
MIRT514340	hsa-miR-3689a-3p	PAR-CLIP	23446348
MIRT514339	hsa-miR-3689b-3p	PAR-CLIP	23446348
MIRT514338	hsa-miR-3689c	PAR-CLIP	23446348
MIRT514337	hsa-miR-6779-5p	PAR-CLIP	23446348
MIRT514335	hsa-miR-6780a-5p	PAR-CLIP	23446348
MIRT514336	hsa-miR-450a-1-3p	PAR-CLIP	23446348
MIRT514334	hsa-miR-3122	PAR-CLIP	23446348
MIRT514333	hsa-miR-3913-5p	PAR-CLIP	23446348
MIRT514332	hsa-miR-887-5p	PAR-CLIP	23446348
MIRT514331	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT494113	hsa-miR-2278	PAR-CLIP	23592263
MIRT494112	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT494111	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT494110	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT494109	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT494108	hsa-miR-3960	PAR-CLIP	23592263
MIRT494106	hsa-miR-8072	PAR-CLIP	23592263
MIRT494107	hsa-miR-4767	PAR-CLIP	23592263
MIRT494105	hsa-miR-4467	PAR-CLIP	23592263
MIRT494104	hsa-miR-4279	PAR-CLIP	23592263

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003777	Function	Microtubule motor activity	NAS	9373155
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	NAS	9373155
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:0007017	Process	Microtubule-based process	IEA
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	IEA
GO:0036126	Component	Sperm flagellum	IDA	31178125
GO:0036157	Component	Outer dynein arm	IDA	31178125
GO:0036158	Process	Outer dynein arm assembly	IDA	31178125
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	NAS	9373155
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
610063	2946	ENSG00000187775

Q9UFH2

Protein name

Dynein axonemal heavy chain 17 (Axonemal beta dynein heavy chain 17) (Axonemal dynein heavy chain-like protein 1) (Ciliary dynein heavy chain 17) (Ciliary dynein heavy chain-like protein 1) (Dynein axonemal light chain 2)

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	190 → 767	Dynein heavy chain, N-terminal region 1	Family
PF08393	DHC_N2	1269 → 1675	Dynein heavy chain, N-terminal region 2	Family
PF12774	AAA_6	1809 → 2135	Hydrolytic ATP binding site of dynein motor region	Domain
PF17852	Dynein_AAA_lid	2291 → 2411	Dynein heavy chain AAA lid domain	Domain
PF12775	AAA_7	2416 → 2595		Domain
PF17857	AAA_lid_1	2628 → 2727	AAA+ lid domain	Domain
PF12780	AAA_8	2771 → 3030	P-loop containing dynein motor region D4	Domain
PF12777	MT	3043 → 3386	Microtubule-binding stalk of dynein motor	Domain
PF12781	AAA_9	3412 → 3630	ATP-binding dynein motor region	Domain
PF03028	Dynein_heavy	3870 → 3991	Dynein heavy chain region D6 P-loop domain	Domain
PF18198	AAA_lid_11	4005 → 4159	Dynein heavy chain AAA lid domain	Domain
PF18199	Dynein_C	4165 → 4460	Dynein heavy chain C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis (PubMed:9545504). Expressed in spermatozoa (at protein level). Not detected in airway epithelial cells (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:9545504}.

Sequence

MTMAPDVRLEYLEEVASIVLKFKPDKWSKLIGAEENVALFTEFFEKPDVQVLVLTLNAAG
MIIPCLGFPQSLKSKGVYFIKTKSENINKDNYRARLLYGDISPTPVDQLIAVVEEVLSSL
LNQSENMAGWPQVVSEDIVKQVHRLKNEMFVMSGKIKGKTLLPIPEHLGSLDGTLESMER
IPSSLDNLLLHAIETTIIDWSHQIRDVLSKDSAQALLDGLHPLPQVEFEFWDTRLLNLKC
IHEQLNRPKVNKIVEILEKAKSCYWPALQNVYTNVTEGLKEANDIVLYLKPLRILLEEME
QADFTMLPTFIAKVLDTICFIWATSEYYNTPARIIVILQEFCNQIIEMTRTFLSPEEVLK
GLQGEIEEVLSGISLAVNVLKELYQTYDFCCVNMKLFFKDKEPVPWEFPSSLAFSRINSF
FQRIQTIEELYKTAIEFLKLEKIELGGVRGNLLGSLVTRIYDEVFELVKVFADCKYDPLD
PGDSNFDRDYADFEIKIQDLDRRLATIFCQGFDDCSCIKSSAKLLYMCGGLMERPLILAE
VAPRYSVMLELFDAELDNAKILYDAQMAASEEGNIPLIHKNMPPVAGQLKWSLELQERLE
VSMKHLKHVEHPVMSGAEAKLTYQKYDEMMELLRCHREKIYQQWVAGVDQDCHFNLGQPL
ILRDAASNLIHVNFSKALVAVLREVKYLNFQQQKEIPDSAESLFSENETFRKFVGNLELI
VGWYNEIKTIVKAVEFLLIKSELEAIDVKLLSAETTLFWNGEGVFQYIQEVREILHNLQN
RMQKAKQNIEGISQAMKDWSANPLFERKDNKKEALLDLDGRIANLNKRYAAVRDAGVKIQ
AMVAENAELFRADTLSLPWKDYVIYIDDMVLDEFDQFIRKSLSFLMDNMVIDESIAPLFE
IRMELDEDGLTFNPTLEVGSDRGFLALIEGLVNDIYNVARLIPRLAKDRMNYKMDLEDNT
DLIEMREEVSSLVINAMKEAEEYQDSFERYSYLWTDNLQEFMKNFLIYGCAVTAEDLDTW
TDDTIPKTPPTLAQFQEQIDSYEKLYEEVSKCENTKVFHGWLQCDCRPFKQALLSTIRRW
GFMFKRHLSNHVTNSLADLEAFMKVARMGLTKPLKEGDYDGLVEVMGHLMKVKERQAATD
NMFEPLKQTIELLKTYGEEMPEEIHLKLQELPEHWANTKKLAIQVKLTVAPLQANEVSIL
RRKCQQFELKQHEFRERFRREAPFSFSDPNPYKSLNKQQKSISAMEGIMEALSKSGGLFE
VPVPDYKQLKACHREVRLLKELWDMVVVVNTSIEDWKTTKWKDINVEQMDIDCKKFAKDM
RSLDKEMKTWDAFVGLDNTVKNVITSLRAVSELQNPAIRERHWQQLMQATQVKFKMSEET
TLADLLQLNLHSYEDEVRNIVDKAVKESGMEKVLKALDSTWSMMEFQHEPHPRTGTMMLK
SSEVLVETLEDNQVQLQNLMMSKYLAHFLKEVTSWQQKLSTADSVISIWFEVQRTWSHLE
SIFIGSEDIRTQLPGDSQRFDDINQEFKALMEDAVKTPNVVEATSKPGLYNKLEALKKSL
AICEKALAEYLETKRLAFPRFYFVSSADLLDILSNGNDPVEVSRHLSKLFDSLCKLKFRL
DASDKPLKVGLGMYSKEDEYMVFDQECDLSGQVEVWLNRVLDRMCSTLRHEIPEAVVTYE
EKPREQWILDYPAQVALTCTQIWWTTEVGLAFARLEEGYENAIRDYNKKQISQLNVLITL
LMGNLNAGDRMKIMTICTIDVHARDVVAKMIVAKVESSQAFTWQAQLRHRWDEEKRHCFA
NICDAQIQYSYEYLGNTPRLVITPLTDRCYITLTQSLHLIMGGAPAGPAGTGKTETTKDL
GRALGTMVYVFNCSEQMDYKSCGNIYKGLAQTGAWGCFDEFNRISVEVLSVIAVQVKCVQ
DAIRAKKKAFNFLGEIIGLIPTVGIFITMNPGYAGRAELPENLKALFRPCAMVVPDFELI
CEIMLMAEGFLEARLLARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDPS
RAEDQVLMRALRDFNIPKIVTDDLPVFMGLIGDLFPALDVPRKRDLNFEKIIKQSIVELK
LQAEDSFVLKVVQLEELLQVRHSVFIVGNAGSGKSQVLKSLNKTYQNLKRKPVAVDLDPK
AVTCDELFGIINPVTREWKDGLFSTIMRDLANITHDGPKWIILDGDIDPMWIESLNTVMD
DNKVLTLASNERIPLNRTMRLVFEISHLRTATPATVSRAGILYINPADLGWNPVVSSWIE
RRKVQSEKANLMILFDKYLPTCLDKLRFGFKKITPVPEITVIQTILYLLECLLTEKTVPP
DSPRELYELYFVFTCFWAFGGAMFQDQLVDYRVEFSKWWINEFKTIKFPSQGTIFDYYID
PDTKKFLPWTDKVPSFELDPDVPLQASLVHTTETIRIRYFMDLLMEKSWPVMLVGNAGTG
KSVLMGDKLESLNTDNYLVQAVPFNFYTTSAMLQGVLEKPLEKKSGRNYGPPGTKKLVYF
IDDMNMPEVDKYGTVAPHTLIRQHMDHRHWYDRHKLTLKDIHNCQYVACMNPTSGSFTID
SRLQRHFCVFAVSFPGQEALTTIYNTILTQHLAFRSVSMAIQRISSQLVAAALALHQKIT
ATFLPTAIKFHYVFNLRDLSNIFQGLLFSTAEVLKTPLDLVRLWLHETERVYGDKMVDEK
DQETLHRVTMASTKKFFDDLGDELLFAKPNIFCHFAQGIGDPKYVPVTDMAPLNKLLVDV
LDSYNEVNAVMNLVLFEDAVAHICRINRILESPRGNALLVGVGGSGKQSLSRLAAYISGL
DVFQITLKKGYGIPDLKIDLAAQYIKAAVKNVPSVFLMTDSQVAEEQFLVLINDLLASGE
IPGLFMEDEVENIISSMRPQVKSLGMNDTRETCWKFFIEKVRRQLKVILCFSPVGSVLRV
RARKFPAVVNCTAIDWFHEWPEDALVSVSARFLEETEGIPWEVKASISFFMSYVHTTVNE
MSRVYLATERRYNYTTPKTFLEQIKLYQNLLAKKRTELVAKIERLENGLMKLQSTASQVD
DLKAKLAIQEAELKQKNESADQLIQVVGIEAEKVSKEKAIADQEEVKVEVINKNVTEKQK
ACETDLAKAEPALLAAQEALDTLNKNNLTELKSFGSPPDAVVNVTAAVMILTAPGGKIPK
DKSWKAAKIMMGKVDTFLDSLKKFDKEHIPEACLKAFKPYQGNPTFDPEFIRSKSTAAAG
LCSWCINIVRFYEVYCDVAPKRQALEEANAELAEAQEKLSRIKNKIAELNANLSNLTSAF
EKATAEKIKCQQEADATNRVILLANRLVGGLASENIRWAESVENFRSQGVTLCGDVLLIS
AFVSYVGYFTKKYRNELMEKFWIPYIHNLKVPIPITNGLDPLSLLTDDADVATWNNQGLP
SDRMSTENATILGNTERWPLIVDAQLQGIKWIKNKYRSELKAIRLGQKSYLDVIEQAISE
GDTLLIENIGETVDPVLDPLLGRNTIKKGKYIKIGDKEVEYHPKFRLILHTKYFNPHYKP
EMQAQCTLINFLVTRDGLEDQLLAAVVAKERPDLEQLKANLTKSQNEFKIVLKELEDSLL
ARLSAASGNFLGDTALVENLETTKHTASEIEEKVVEAKITEVKINEARENYRPAAERASL
LYFILNDLNKINPVYQFSLKAFNVVFEKAIQRTTPANEVKQRVINLTDEITYSVYMYTAR
GLFERDKLIFLAQVTFQVLSMKKELNPVELDFLLRFPFKAGVVSPVDFLQHQGWGGIKAL
SEMDEFKNLDSDIEGSAKRWKKLVESEAPEKEIFPKEWKNKTALQKLCMVRCLRPDRMTY
AIKNFVEEKMGSKFVEGRSVEFSKSYEESSPSTSIFFILSPGVDPLKDVEALGKKLGFTI
DNGKLHNVSLGQGQEVVAENALDVAAEKGHWVILQNIHLVARWLGTLDKKLEHYSTGSHE
DYRVFISAEPAPSPETHIIPQGILENAIKITNEPPTGMHANLHKALDLFTQDTLEMCTKE
MEFKCMLFALCYFHAVVAERRKFGAQGWNRSYPFNNGDLTISINVLYNYLEANPKVPWDD
LRYLFGEIMYGGHITDDWDRRLCRTYLAEYIRTEMLEGDVLLAPGFQIPPNLDYKGYHEY
IDENLPPESPYLYGLHPNAEIGFLTVTSEKLFRTVLEMQPKETDSGAGTGVSREEKVKAV
LDDILEKIPETFNMAEIMAKAAEKTPYVVVAFQECERMNILTNEMRRSLKELNLGLKGEL
TITTDVEDLSTALFYDTVPDTWVARAYPSMMGLAAWYADLLLRIRELEAWTTDFALPTTV
WLAGFFNPQSFLTAIMQSMARKNEWPLDKMCLSVEVTKKNREDMTAPPREGSYVYGLFME
GARWDTQTGVIAEARLKELTPAMPVIFIKAIPVDRMETKNIYECPVYKTRIRGPTYVWTF
NLKTKEKAAKWILAAVALLLQV

Sequence length

4462

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DNAH17-related disorder	Likely pathogenic	rs2086970259, rs2511477180, rs757601640, rs748912987, rs745525261	RCV003412444 RCV003402398 RCV003402705 RCV003894560 RCV003914069	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with spermatogenesis disorder	Likely pathogenic	rs769976401	RCV004018300	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs763505389, rs768564744	RCV000736146 RCV000736144	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 39	Pathogenic; Likely pathogenic	rs2146716548, rs775503600, rs2511560242, rs201018927, rs1598595659, rs767723684, rs1598525781	RCV002267212 RCV002271347 RCV003147887 RCV003333882 RCV000853614 RCV000853615 RCV000853616	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Asthenozoospermia	Associate	31178125	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Associate	32807774	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	30575322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Associate	35474353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Associate	31178125	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	39521879	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Associate	31178125	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	31178125, 34126833	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laterality Defects Autosomal Dominant	Associate	35474353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30575322, 32351291	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Stimulate	32351291	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Stimulate	32351291	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Associate	31985809	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Associate	30575322	★★★★★ ★☆☆☆☆ Found in Text Mining only

DNAH17 (dynein axonemal heavy chain 17)