Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388389
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF19
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC103, CILD17, PR46b, SMH
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017285 hsa-miR-335-5p Microarray 18185580
MIRT867312 hsa-miR-129-5p CLIP-seq
MIRT867313 hsa-miR-2110 CLIP-seq
MIRT867314 hsa-miR-3126-5p CLIP-seq
MIRT867315 hsa-miR-3147 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001947 Process Heart looping IMP 22581229
GO:0003341 Process Cilium movement IGI 22581229
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement IBA
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614677 32700 ENSG00000167131
Protein
UniProt ID Q8IW40
Protein name Dynein axonemal assembly factor 19 (Coiled-coil domain-containing protein 103)
Protein function Dynein-attachment factor required for cilia motility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15867 Dynein_attach_N 7 74 Dynein attachment factor N-terminus Family
PF13877 RPAP3_C 98 188 Potential Monad-binding region of RPAP3 Domain
Sequence
Sequence length 242
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)
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, Primary ciliary dyskinesia 17 rs1597843267, rs2051550027, rs587776910, rs145457535, rs1060503433, rs746242380 N/A