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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55172
Gene name	Dynein axonemal assembly factor 2
Gene symbol	DNAAF2
Synonyms (NCBI Gene)	C14orf104CILD10KTUPF13
Chromosome	14
Chromosome location	14q21.3
Summary	This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene h

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34352773	T>C,G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, coding sequence variant, synonymous variant
rs137853191	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs139416233	G>A,C	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs397515341	->CCACGCAGGTATCGTG	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs727504815	C>A,T	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs747290752	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs752795172	C>A,T	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs777108430	CGGGGCT>-,CGGGGCTCGGGGCT	Pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs797045146	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs902156961	->CCCC	Pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant
rs1555327917	C>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1555327928	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1555328022	G>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1555328047	GGGGCTG>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1555328087	G>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1555328130	->ACATGGC	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1594608287	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016921	hsa-miR-335-5p	Microarray	18185580
MIRT569973	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569972	hsa-miR-3169	PAR-CLIP	20371350
MIRT569971	hsa-miR-665	PAR-CLIP	20371350
MIRT569970	hsa-miR-4493	PAR-CLIP	20371350
MIRT569969	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569968	hsa-miR-610	PAR-CLIP	20371350
MIRT569966	hsa-miR-4740-5p	PAR-CLIP	20371350
MIRT569967	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT504625	hsa-miR-4643	PAR-CLIP	22012620
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	22012620
MIRT504623	hsa-miR-4328	PAR-CLIP	22012620
MIRT504622	hsa-miR-2052	PAR-CLIP	22012620
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	22012620
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	22012620
MIRT504625	hsa-miR-4643	PAR-CLIP	23446348
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	23446348
MIRT504623	hsa-miR-4328	PAR-CLIP	23446348
MIRT504622	hsa-miR-2052	PAR-CLIP	23446348
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	23446348
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT504619	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT504625	hsa-miR-4643	PAR-CLIP	23446348
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	23446348
MIRT504623	hsa-miR-4328	PAR-CLIP	23446348
MIRT504622	hsa-miR-2052	PAR-CLIP	23446348
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	23446348
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT504619	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT569972	hsa-miR-3169	PAR-CLIP	27292025
MIRT569972	hsa-miR-3169	PAR-CLIP	27292025
MIRT569967	hsa-miR-3653-3p	PAR-CLIP	27292025
MIRT569967	hsa-miR-3653-3p	PAR-CLIP	27292025
MIRT569970	hsa-miR-4493	PAR-CLIP	27292025
MIRT569970	hsa-miR-4493	PAR-CLIP	27292025
MIRT569966	hsa-miR-4740-5p	PAR-CLIP	27292025
MIRT569966	hsa-miR-4740-5p	PAR-CLIP	27292025
MIRT569973	hsa-miR-4753-5p	PAR-CLIP	27292025
MIRT569973	hsa-miR-4753-5p	PAR-CLIP	27292025
MIRT569968	hsa-miR-610	PAR-CLIP	27292025
MIRT569968	hsa-miR-610	PAR-CLIP	27292025
MIRT569971	hsa-miR-665	PAR-CLIP	27292025
MIRT569971	hsa-miR-665	PAR-CLIP	27292025
MIRT569969	hsa-miR-6857-3p	PAR-CLIP	27292025
MIRT569969	hsa-miR-6857-3p	PAR-CLIP	27292025
MIRT569973	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT569972	hsa-miR-3169	PAR-CLIP	20371350
MIRT569971	hsa-miR-665	PAR-CLIP	20371350
MIRT569970	hsa-miR-4493	PAR-CLIP	20371350
MIRT569969	hsa-miR-6857-3p	PAR-CLIP	20371350
MIRT569968	hsa-miR-610	PAR-CLIP	20371350
MIRT569966	hsa-miR-4740-5p	PAR-CLIP	20371350
MIRT569967	hsa-miR-3653-3p	PAR-CLIP	20371350
MIRT504625	hsa-miR-4643	PAR-CLIP	22012620
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	22012620
MIRT504623	hsa-miR-4328	PAR-CLIP	22012620
MIRT504622	hsa-miR-2052	PAR-CLIP	22012620
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	22012620
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	22012620
MIRT504625	hsa-miR-4643	PAR-CLIP	23446348
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	23446348
MIRT504623	hsa-miR-4328	PAR-CLIP	23446348
MIRT504622	hsa-miR-2052	PAR-CLIP	23446348
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	23446348
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT504619	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT504625	hsa-miR-4643	PAR-CLIP	23446348
MIRT504624	hsa-miR-4640-3p	PAR-CLIP	23446348
MIRT504623	hsa-miR-4328	PAR-CLIP	23446348
MIRT504622	hsa-miR-2052	PAR-CLIP	23446348
MIRT504621	hsa-miR-6798-3p	PAR-CLIP	23446348
MIRT504620	hsa-miR-203a-3p	PAR-CLIP	23446348
MIRT504619	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT939554	hsa-miR-1323	CLIP-seq
MIRT939555	hsa-miR-4700-3p	CLIP-seq
MIRT939556	hsa-miR-4719	CLIP-seq
MIRT939557	hsa-miR-5095	CLIP-seq
MIRT939558	hsa-miR-548o	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IBA
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0005515	Function	Protein binding	IPI	23872636, 27173435, 28041644, 29727692, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19052621
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005929	Component	Cilium	IDA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0050821	Process	Protein stabilization	NAS	29844425
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060285	Process	Cilium-dependent cell motility	IBA
GO:0060285	Process	Cilium-dependent cell motility	IEA
GO:0060285	Process	Cilium-dependent cell motility	IMP	19052621
GO:0061966	Process	Establishment of left/right asymmetry	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IBA
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	19052621
GO:0101031	Component	Protein folding chaperone complex	IPI	29844425
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

MIM	HGNC	e!Ensembl
612517	20188	ENSG00000165506

Q9NVR5

Protein name

Protein kintoun (Dynein assembly factor 2, axonemal)

Protein function

Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the cil

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08190	PIH1	43 → 209	PIH1 N-terminal domain	Domain
PF18201	PIH1_CS	250 → 349	PIH1 CS-like domain	Domain

Sequence

MAKAAASSSLEDLDLSGEEVQRLTSAFQDPEFRRMFSQYAEELTDPENRRRYEAEITALE
RERGVEVRFVHPEPGHVLRTSLDGARRCFVNVCSNALVGAPSSRPGSGGDRGAAPGSHWS
LPYSLAPGREYAGRSSSRYMVYDVVFHPDALALARRHEGFRQMLDATALEAVEKQFGVKL
DRRNAKTLKAKYKGTPEAAVLRTPLPGVIPARPDGEPKGPLPDFPYPYQYPAAPGPRAPS
PPEAALQPAPTEPRYSVVQRHHVDLQDYRCSRDSAPSPVPHELVITIELPLLRSAEQAAL
EVTRKLLCLDSRKPDYRLRLSLPYPVDDGRGKAQFNKARRQLVVTLPVVLPAARREPAVA
VAAAAPEESADRSGTDGQACASAREGEAGPARSRAEDGGHDTCVAGAAGSGVTTLGDPEV
APPPAAAGEERVPKPGEQDLSRHAGSPPGSVEEPSPGGENSPGGGGSPCLSSRSLAWGSS
AGRESARGDSSVETREESEGTGGQRSACAMGGPGTKSGEPLCPPLLCNQDKETLTLLIQV
PRIQPQSLQGDLNPLWYKLRFSAQDLVYSFFLQFAPENKLSTTEPVISISSNNAVIELAK
SPESHGHWREWYYGVNNDSLEERLFVNEENVNEFLEEVLSSPFKQSMSLTPPLIEVLQVT
DNKIQINAKLQECSNSDQLQGKEERVNEESHLTEKEYIEHCNTPTTDSDSSIAVKALQID
SFGLVTCFQQESLDVSQMILGKSQQPESKMQSEFIKEKSATCSNEEKDNLNESVITEEKE
TDGDHLSSLLNKTTVHNIPGFDSIKETNMQDGSVQVIKDHVTNCAFSFQNSLLYDLD

Sequence length

837

Interactions

View interactions

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
DNAAF2-related disorder	Likely pathogenic; Pathogenic	rs1267718786, rs1259830005, rs139416233	RCV003409967 RCV003405871 RCV003392589	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kartagener syndrome	Pathogenic	rs137853191, rs397515341	RCV000190866 RCV000190873	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs767450283, rs1210988336, rs2139581674, rs1213557289, rs727504815, rs1439733262, rs780453315, rs748693944, rs1267718786, rs1185151033, rs2502756510, rs1566513076, rs1220968996, rs1426753271, rs758230960 View all (15 more)	RCV003538819 RCV001939463 RCV001972408 RCV001957688 RCV000156150 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 10	Pathogenic; Likely pathogenic	rs867153082, rs2139584419, rs767450283, rs137853191, rs397515341, rs748693944, rs2502768785, rs2502765926, rs2502770144, rs902156961	RCV001549290 RCV001549291 RCV001783125 RCV000000559 RCV000000558 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

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.
ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 10	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 10	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	19052621		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 10	Ciliary dyskinesia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	25186273, 32638265, 38053031	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32638265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34252604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29727693		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DNAAF2 (dynein axonemal assembly factor 2)