DNAAF4 (dynein axonemal assembly factor 4)

2017-04-01  

Identity

HGNC
DNAAF4
LOCATION
15q21.3
LOCUSID
161582
ALIAS
CILD25,DYX1,DYX1C1,DYXC1,EKN1,RD
FUSION GENES
Show Gene Fusions

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386100862024Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.0
386100862024Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.0
376743652023A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia.0
376743652023A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia.0
331740032020Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.2
331740032020Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.2
274514122016Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.17
274514122016Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.17
243623682014Association of SNPs of DYX1C1 with developmental dyslexia in an Indian population.7
243623682014Association of SNPs of DYX1C1 with developmental dyslexia in an Indian population.7
230369592013Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins.23
231765542013An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes.29
233410752013A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.0
238726362013DYX1C1 is required for axonemal dynein assembly and ciliary motility.0
230369592013Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins.23

Citation

Dessen P

DNAAF4 (dynein axonemal assembly factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56808/case-report-explorer/js/favicon/favicon-32x32.png