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

Gene Gene information from NCBI Gene database. Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	161582
Gene name	Dynein axonemal assembly factor 4
Gene symbol	DNAAF4
Synonyms (NCBI Gene)	CILD25DYX1DYX1C1DYXC1EKN1RDpf23
Chromosome	15
Chromosome location	15q21.3
Summary	This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in th

Show/Hide all (3)

Transcription factor	Regulation	Reference
GTF2I	Unknown	18445785
PARP1	Unknown	18445785
SFPQ	Unknown	18445785

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	ISS
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	23872636
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	19423554, 20562859, 23872636, 25416956, 26871637, 28041644, 29601588, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	16989952, 19423554
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16989952, 19423554, 23872636
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007368	Process	Determination of left/right symmetry	IBA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	23872636
GO:0007399	Process	Nervous system development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IBA
GO:0030331	Function	Nuclear estrogen receptor binding	IDA	19423554
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IDA	19423554
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IEA
GO:0036158	Process	Outer dynein arm assembly	IMP	23872636
GO:0036159	Process	Inner dynein arm assembly	IBA
GO:0036159	Process	Inner dynein arm assembly	IEA
GO:0036159	Process	Inner dynein arm assembly	IMP	23872636
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IDA	19423554
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

MIM	HGNC	e!Ensembl
608706	21493	ENSG00000256061

Q8WXU2

Protein name

Dynein axonemal assembly factor 4 (Dyslexia susceptibility 1 candidate gene 1 protein)

Protein function

Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important r

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04969	CS	6 → 77	CS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells. {ECO:0000269|PubMed:12954984}.

Sequence

MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDE
SSKAKIGNDTIVFTLYKKEAAMWETLSVTGVDKEMMQRIREKSILQAQERAKEATEAKAA
AKREDQKYALSVMMKIEEEERKKIEDMKENERIKATKALEAWKEYQRKAEEQKKIQREEK
LCQKEKQIKEERKKIKYKSLTRNLASRNLAPKGRNSENIFTEKLKEDSIPAPRSVGSIKI
NFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAELCDLKEEEKNPEWLKDKGNKL
FATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKALELLMPPVTD
NANARMKAHVRRGTAFCQLELYVEGLQDYEAALKIDPSNKIVQIDAEKIRNVIQGTELKS

Sequence length

420

Interactions

View interactions

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DNAAF4-related disorder	Likely pathogenic; Pathogenic	rs762704959, rs779538333, rs751610886	RCV003426065 RCV004751412 RCV003403380
Dyslexia, susceptibility to, 1	Pathogenic; Likely pathogenic	rs982697369, rs2058668062, rs751610886, rs753649614, rs397515621, rs774796257	RCV004820893 RCV003990385 RCV002476354 RCV003989587 RCV002504978 RCV005860186
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs781156334, rs751610886, rs770136467, rs201173498	RCV005626799 RCV000610966 RCV001268924 RCV001255276
Primary ciliary dyskinesia 25	Pathogenic; Likely pathogenic	rs2543406965, rs781156334, rs751610886, rs1302509857, rs753649614, rs397515621, rs397515622, rs2058179740, rs201173498	RCV003225692 RCV003320449 RCV003129933 RCV002476354 RCV005632535 RCV001507021 RCV000059318 RCV000059319 RCV001078457 RCV003142192
Respiratory ciliopathies including non-CF bronchiectasis	Likely pathogenic; Pathogenic	rs397515621	RCV006261947

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lymphoma	Benign	rs17819126	RCV005899584

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthenozoospermia	Associate	37147940
Breast Neoplasms	Associate	19277710, 22375924
Ciliary Motility Disorders	Associate	24824133, 25186273, 26123568, 28801648, 37147940
Dyslexia	Associate	12954984, 17309662, 18445785, 19277710, 20846247, 21046216, 21599957, 22375924, 22383464, 23028439, 23176554, 24022301, 25339756, 26400686, 28074887, 29201552, 30379906, 32445086 View all (3 more)
Dyslexia Acquired	Associate	19076634
Neoplasms	Associate	19277710, 22375924
Neuroblastoma	Associate	22383464
Smoke Inhalation Injury	Associate	23176554

DNAAF4 (dynein axonemal assembly factor 4)