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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	388389
Gene name	Dynein axonemal assembly factor 19
Gene symbol	DNAAF19
Synonyms (NCBI Gene)	CCDC103CILD17PR46bSMH
Chromosome	17
Chromosome location	17q21.31

Show/Hide all (46)

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
MIRT867316	hsa-miR-3194-3p	CLIP-seq
MIRT867317	hsa-miR-3199	CLIP-seq
MIRT867318	hsa-miR-338-3p	CLIP-seq
MIRT867319	hsa-miR-4271	CLIP-seq
MIRT867320	hsa-miR-4310	CLIP-seq
MIRT867321	hsa-miR-4434	CLIP-seq
MIRT867322	hsa-miR-4515	CLIP-seq
MIRT867323	hsa-miR-4516	CLIP-seq
MIRT867324	hsa-miR-4531	CLIP-seq
MIRT867325	hsa-miR-4725-3p	CLIP-seq
MIRT867326	hsa-miR-4795-5p	CLIP-seq
MIRT867327	hsa-miR-491-5p	CLIP-seq
MIRT867328	hsa-miR-603	CLIP-seq
MIRT867329	hsa-miR-659	CLIP-seq
MIRT867330	hsa-miR-7	CLIP-seq
MIRT867313	hsa-miR-2110	CLIP-seq
MIRT867314	hsa-miR-3126-5p	CLIP-seq
MIRT1957435	hsa-miR-3136-5p	CLIP-seq
MIRT867317	hsa-miR-3199	CLIP-seq
MIRT1957436	hsa-miR-329	CLIP-seq
MIRT1957437	hsa-miR-362-3p	CLIP-seq
MIRT1957438	hsa-miR-3941	CLIP-seq
MIRT867319	hsa-miR-4271	CLIP-seq
MIRT1957439	hsa-miR-4419a	CLIP-seq
MIRT867321	hsa-miR-4434	CLIP-seq
MIRT1957440	hsa-miR-4439	CLIP-seq
MIRT1957441	hsa-miR-4510	CLIP-seq
MIRT867322	hsa-miR-4515	CLIP-seq
MIRT867323	hsa-miR-4516	CLIP-seq
MIRT867324	hsa-miR-4531	CLIP-seq
MIRT867325	hsa-miR-4725-3p	CLIP-seq
MIRT867326	hsa-miR-4795-5p	CLIP-seq
MIRT1957442	hsa-miR-490-5p	CLIP-seq
MIRT867327	hsa-miR-491-5p	CLIP-seq
MIRT867328	hsa-miR-603	CLIP-seq
MIRT867330	hsa-miR-7	CLIP-seq
MIRT1957443	hsa-miR-943	CLIP-seq
MIRT2194426	hsa-miR-1270	CLIP-seq
MIRT2194427	hsa-miR-4302	CLIP-seq
MIRT2194428	hsa-miR-4683	CLIP-seq
MIRT2194429	hsa-miR-620	CLIP-seq

Show/Hide all (22)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	22581229
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	ISS	22581229
GO:0007368	Process	Determination of left/right symmetry	IBA
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036157	Component	Outer dynein arm	IEA
GO:0036158	Process	Outer dynein arm assembly	IGI	22581229
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IGI	22581229
GO:0042803	Function	Protein homodimerization activity	IDA	22581229
GO:0042995	Component	Cell projection	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IC	22581229
GO:0070286	Process	Axonemal dynein complex assembly	IEA
GO:0070286	Process	Axonemal dynein complex assembly	IMP	22581229
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	22581229

MIM	HGNC	e!Ensembl
614677	32700	ENSG00000167131

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

MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLE
RKDKMGGKRTVPWNCHTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERY
QALLQLGGPRLGCLFQTDVGFGLLGELLVALADHVGPADRAAVLGILCSLASTGRFTLNL
SLLSRAERESCKGLFQKLQAMGNPRSVKEGLSWEEQGLEEQSGGLQEEERLLQELLELYQ
VD

Sequence length

242

Interactions

View interactions

236

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Absent inner and outer dynein arms	Likely pathogenic	rs746242380	RCV000768406
CCDC103-related disorder	Likely pathogenic; Pathogenic	rs145457535	RCV003421933
Diarrhea 12, with microvillus atrophy	Pathogenic	rs147738533	RCV005860275
Hereditary spastic paraplegia 50	Likely pathogenic; Pathogenic	rs145457535	RCV006268088
Infertility disorder	Likely pathogenic; Pathogenic	rs145457535	RCV001327943
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs747091524, rs759224168, rs746242380, rs147738533, rs1292757961, rs2508900110, rs1567763865, rs2508900227, rs1470852605, rs141004815, rs2508900598, rs1060503433, rs145457535, rs1597843267, rs2051550027	RCV001849595 RCV002000172 RCV002035262 RCV001984507 RCV002438021 RCV003537769 RCV003536414 RCV003538934 RCV003538000 RCV003535212 RCV003536726 RCV003648033 RCV003832444 RCV000467115 RCV000226016 RCV000539033 RCV000826099 RCV001065162
Primary ciliary dyskinesia 17	Likely pathogenic; Pathogenic	rs747091524, rs759224168, rs746242380, rs1292757961, rs2508896569, rs587776910, rs145457535	RCV005014689 RCV005006311 RCV005006302 RCV005869838 RCV004526483 RCV000024375 RCV000024376 RCV005010486
Respiratory ciliopathies including non-CF bronchiectasis	Likely pathogenic; Pathogenic	rs145457535	RCV004782022
Situs inversus	Likely pathogenic	rs746242380	RCV000768406

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign; Likely benign	rs74349463, rs8079610	RCV005894408 RCV005898180
Sarcoma	Likely benign	rs74761853	RCV005917525
Uterine carcinosarcoma	Benign; Likely benign	rs74349463	RCV005894410
Uterine corpus endometrial carcinoma	Likely benign	rs74761853	RCV005917526
Uveal melanoma	Benign; Likely benign	rs74349463	RCV005894409

DNAAF19 (dynein axonemal assembly factor 19)