DNAAF4 (dynein axonemal assembly factor 4)

2017-04-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
CILD25,DYX1,DYX1C1,DYXC1,EKN1,RD
FUSION GENES

Other Information

Locus ID:

NCBI: 161582
MIM: 608706
HGNC: 21493
Ensembl: ENSG00000256061

Variants:

dbSNP: 161582
ClinVar: 161582
TCGA: ENSG00000256061
COSMIC: DNAAF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000256061ENST00000321149Q8WXU2
ENSG00000256061ENST00000348518Q8WXU2
ENSG00000256061ENST00000448430Q8WXU2
ENSG00000256061ENST00000448430A0A0S2Z5Z4
ENSG00000256061ENST00000457155Q8WXU2
ENSG00000256061ENST00000522437E5RJ13
ENSG00000256061ENST00000524160B4DY92

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
238726362013DYX1C1 is required for axonemal dynein assembly and ciliary motility.98
129549842003A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain.94
169899522006DYX1C1 functions in neuronal migration in developing neocortex.63
226830912012Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure.60
152499322004Support for EKN1 as the susceptibility locus for dyslexia on 15q21.41
174505412007Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia.39
225581772012Exploring the transcriptome of ciliated cells using in silico dissection of human tissues.36
173096622007Association of short-term memory with a variant within DYX1C1 in developmental dyslexia.34
173096622007Association of short-term memory with a variant within DYX1C1 in developmental dyslexia.34
155204112004Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK.33

Citation

Dessen P

DNAAF4 (dynein axonemal assembly factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56808/dnaaf4