DNAAF6 (dynein axonemal assembly factor 6)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 139212
Gene name Dynein axonemal assembly factor 6
Gene symbol DNAAF6
Synonyms (NCBI Gene)
CILD36CXorf41NYSAR97PIH1D3TWISTER
Chromosome X
Chromosome location Xq22.3
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1057519568 GGTGGGA>- Pathogenic Frameshift variant, coding sequence variant
rs1057519569 C>T Pathogenic Coding sequence variant, stop gained
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IMP 28041644, 28176794
GO:0005515 Function Protein binding IPI 25416956, 28041644, 28176794, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 28176794
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300933 28570 ENSG00000080572
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQM4
Protein name Dynein axonemal assembly factor 6 (PIH1 domain-containing protein 3) (Sarcoma antigen NY-SAR-97)
Protein function Plays a role in cytoplasmic pre-assembly of axonemal dynein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18201 PIH1_CS 108 → 205 PIH1 CS-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary. Expressed in ciliated epithelial cells (PubMed:28176794). {ECO:0000269|PubMed:12601173, ECO:0000269|PubMed:28176794}.
Sequence 
MESENMDSENMKTENMESQNVDFESVSSVTALEALSKLLNPEEEDDSDYGQTNGLSTIGA
MGPGNIGPPQIEELKVIPETSEENNEDIWNSEEIPEGAEYDDMWDVREIPEYEIIFRQQV
GTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNPSDIQIDIQETILDLRTPQKKLLITLPE
LVECTSAKAFYIPETETLEITMTMKRELDIANFF
Sequence length 214
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ciliary dyskinesia, primary, 36, X-linked Likely pathogenic; Pathogenic rs2522808756, rs1057519568, rs1057519569, rs1928059485 RCV002283880
RCV000417064
RCV000417045
RCV001089643
Primary ciliary dyskinesia Likely pathogenic rs2147829163 RCV001849599
Thyroid cancer, nonmedullary, 1 Pathogenic rs2522795828 RCV005931566
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAAF6-related disorder Likely benign; Benign; Uncertain significance rs376397712, rs375767930, rs2522786393, rs746560816 RCV003926684
RCV004754906
RCV003402534
RCV003911932