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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	352909
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal assembly factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAAF3
Synonyms (NCBI Gene) Gene synonyms aliases	C19orf51, CILD2, DAB1, PCD, PF22
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2).

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907151	A>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs387907152	G>A	Pathogenic	Stop gained, coding sequence variant
rs543369426	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs745465871	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant

Show/Hide all(125)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017491	hsa-miR-335-5p	Microarray	18185580
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619082	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT528571	hsa-miR-433-5p	PAR-CLIP	22012620
MIRT528570	hsa-miR-3155a	PAR-CLIP	22012620
MIRT528569	hsa-miR-3155b	PAR-CLIP	22012620
MIRT528568	hsa-miR-484	PAR-CLIP	22012620
MIRT528567	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT528566	hsa-miR-4673	PAR-CLIP	22012620
MIRT528565	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT528564	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT528563	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT528562	hsa-miR-1250-5p	PAR-CLIP	22012620
MIRT528561	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT528560	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT528559	hsa-miR-2115-5p	PAR-CLIP	22012620
MIRT528558	hsa-miR-516a-3p	PAR-CLIP	22012620
MIRT528557	hsa-miR-516b-3p	PAR-CLIP	22012620
MIRT528556	hsa-miR-7162-5p	PAR-CLIP	22012620
MIRT528555	hsa-miR-4284	PAR-CLIP	22012620
MIRT528554	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT528553	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT528552	hsa-miR-1302	PAR-CLIP	22012620
MIRT528551	hsa-miR-4298	PAR-CLIP	22012620
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT619083	hsa-miR-3646	HITS-CLIP	23824327
MIRT619082	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT619081	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT619080	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT619079	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT619078	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT619077	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT619076	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT528571	hsa-miR-433-5p	PAR-CLIP	22012620
MIRT528570	hsa-miR-3155a	PAR-CLIP	22012620
MIRT528569	hsa-miR-3155b	PAR-CLIP	22012620
MIRT528568	hsa-miR-484	PAR-CLIP	22012620
MIRT528567	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT528566	hsa-miR-4673	PAR-CLIP	22012620
MIRT528565	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT528564	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT528563	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT528562	hsa-miR-1250-5p	PAR-CLIP	22012620
MIRT528561	hsa-miR-6511a-3p	PAR-CLIP	22012620
MIRT528560	hsa-miR-6511b-3p	PAR-CLIP	22012620
MIRT528559	hsa-miR-2115-5p	PAR-CLIP	22012620
MIRT528558	hsa-miR-516a-3p	PAR-CLIP	22012620
MIRT528557	hsa-miR-516b-3p	PAR-CLIP	22012620
MIRT528556	hsa-miR-7162-5p	PAR-CLIP	22012620
MIRT528555	hsa-miR-4284	PAR-CLIP	22012620
MIRT528554	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT528553	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT528552	hsa-miR-1302	PAR-CLIP	22012620
MIRT528551	hsa-miR-4298	PAR-CLIP	22012620
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165
MIRT445828	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT445827	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT445826	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT445825	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT445824	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT445823	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT445822	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT445821	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT445820	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT445819	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT445818	hsa-miR-449a	PAR-CLIP	22100165
MIRT445817	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT445816	hsa-miR-548au-3p	PAR-CLIP	22100165

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030324	Process	Lung development	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0044458	Process	Motile cilium assembly	IBA
GO:0044458	Process	Motile cilium assembly	IMP	22387996
GO:0070286	Process	Axonemal dynein complex assembly	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	22387996
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

MIM	HGNC	e!Ensembl
614566	30492	ENSG00000167646

Protein

UniProt ID

Q8N9W5

Protein name

Dynein axonemal assembly factor 3

Protein function

Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14737	DUF4470	16 → 122	Domain of unknown function (DUF4470)	Family
PF14740	DUF4471	154 → 443	Domain of unknown function (DUF4471)	Domain

Sequence

MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLLGSVDGRHL
LRTLSRAKFWPRRRFNFFVLENNLEAVARHMLIFSLALEEPEKMGLQERSETFLEVWGNA
LLRPPVAAFVRAQADLLAHLVPEPDRLEEQLPWLSLRALKFRERDALEAVFRFWAGGEKG
PQAFPMSRLWDSRLRHYLGSRYDARRGVSDWDLRMKLHDRGAQVIHPQEFRRWRDTGVAF
ELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGDIATGPFVAFGIEADDESLLRTSNG
QPVKTAGEITQHNVTELLRDVAAWGRARATGGDLEEQQHAEGSPEPGTPAAPTPESFTVH
FLPLNSAQTLHHKSCYNGRFQLLYVACGMVHLLIPELGACVAPGGNLIVELARYLVDVRQ
EQLQGFNTRVRELAQAAGFAPQTGARPSETFARFCKSQESALGNTVPAVEPGTPPLDILA
QPLEASNPALEGLTQPLQGGTPHCEPCQLPSESPGSLSEVLAQPQGALAPPNCESDSKTG
V

Sequence length

541

Interactions

View interactions

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 2, primary ciliary dyskinesia	rs770403610, rs756430359, rs543369426, rs770143722, rs748600370, rs1060502831, rs763874734, rs2085791151, rs372166228, rs770306950, rs387907151, rs745465871, rs387907152, rs1349668884, rs397515395, rs1159887305, rs757536895 View all (2 more)	N/A

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ciliary Motility Disorders	Associate	33577779
Cystic Fibrosis	Associate	29323929
Genetic Diseases Inborn	Associate	32917333
Neoplasms	Associate	37711621
Stomach Neoplasms	Associate	37711621

DNAAF3 (dynein axonemal assembly factor 3)