DNAAF2 (dynein axonemal assembly factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55172
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF2
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf104, CILD10, KTU, PF13
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612517 20188 ENSG00000165506
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Primary ciliary dyskinesia 10, primary ciliary dyskinesia rs397515341, rs1555327928, rs139416233, rs752795172, rs1594608287, rs902156961, rs777108430, rs1555328022, rs1555328130, rs137853191, rs1555328047, rs1555327917, rs727504815, rs1555328087 N/A
Kartagener Syndrome kartagener syndrome rs397515341, rs137853191 N/A
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 25186273, 32638265, 38053031
Infertility Male Associate 32638265
Osteoporosis Associate 34252604