DNAAF6 (dynein axonemal assembly factor 6)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
139212
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF6
Synonyms (NCBI Gene) Gene synonyms aliases
CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.3
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300933 28570 ENSG00000080572
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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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 Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary Dyskinesia, X-Linked ciliary dyskinesia, primary, 36, x-linked rs1057519568, rs1057519569, rs1928059485 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ciliary dyskinesia primary ciliary dyskinesia N/A N/A GenCC