DNAAF4 (dynein axonemal assembly factor 4)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161582
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal assembly factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAAF4
Synonyms (NCBI Gene) Gene synonyms aliases
CILD25, DYX1, DYX1C1, DYXC1, EKN1, RD, pf23
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CILD25, DYX1, RD
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
Transcription factors
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
GTF2I Unknown 18445785
PARP1 Unknown 18445785
SFPQ Unknown 18445785
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration ISS
GO:0003341 Process Cilium movement IBA 21873635
GO:0003341 Process Cilium movement IMP 23872636
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement IBA 21873635
GO:0005515 Function Protein binding IPI 19423554, 20562859, 23872636, 25416956, 28041644, 29601588
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608706 21493 ENSG00000256061
Protein
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Ciliary dyskinesia Ciliary Motility Disorders, CILIARY DYSKINESIA, PRIMARY, 25, Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 23872636
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease ClinVar
Developmental dyslexia Developmental reading disorder ClinVar
Otitis media Otitis Media with Effusion, Chronic otitis media ClinVar
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
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
View all (3 more)
Dyslexia Acquired Associate 19076634
Neoplasms Associate 19277710, 22375924
Neuroblastoma Associate 22383464
Smoke Inhalation Injury Associate 23176554