DAZL (deleted in azoospermia like)

2012-11-01  

Identity

HGNC
LOCATION
3p24.3
LOCUSID
ALIAS
DAZH,DAZL1,DAZLA,SPGYLA
FUSION GENES

Other Information

Locus ID:

NCBI: 1618
MIM: 601486
HGNC: 2685
Ensembl: ENSG00000092345

Variants:

dbSNP: 1618
ClinVar: 1618
TCGA: ENSG00000092345
COSMIC: DAZL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000092345ENST00000250863Q92904
ENSG00000092345ENST00000399444Q92904
ENSG00000092345ENST00000399444A0A140VK77
ENSG00000092345ENST00000454457E7EV40

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198650852009Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.145
160010842005The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells.87
180884172007Conserved and divergent patterns of expression of DAZL, VASA and OCT4 in the germ cells of the human fetal ovary and testis.80
125115972003Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins.66
180628612007Gene polymorphisms and male infertility--a meta-analysis and literature review.58
221623802012Divergent RNA-binding proteins, DAZL and VASA, induce meiotic progression in human germ cells derived in vitro.48
206857562010Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm.40
156074252005Identification and characterization of RNA sequences to which human PUMILIO-2 (PUM2) and deleted in Azoospermia-like (DAZL) bind.36
168845372006Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men.18
122004562002Partial rescue of the Dazl knockout mouse by the human DAZL gene.16

Citation

Dessen P

DAZL (deleted in azoospermia like)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52990/dazl