DAZ1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DAZ1 (HGNC:2682) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
deleted in azoospermia 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DAZ
Alias symbols
SPGY
%HI
76.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
Cytoband
Yq11.223
Genomic Coordinates
GRCh37/hg19: chrY:25275502-25345241 NCBI Ensembl UCSC
GRCh38/hg38: chrY:23129355-23199094 NCBI Ensembl UCSC
MANE Select Transcript
NM_004081.7 ENST00000405239.6 (Read more about MANE Select)
Function
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells. {ECO:0000269|PubMed:19865085}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-710
ClinGen Curation ID:
CCID:006971
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
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Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/17/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
To our knowledge, DAZ1-only deletions or duplications have not been reported in the peer reviewed literature. Larger deletions involving the DAZ cluster (i.e. DAZ1, DAZ2, DAZ3 and DAZ4 genes) have been associated with male infertility suggesting that DAZ plays an important role in spermatogenesis. Most of these deletions involve all four DAZ genes (so called AZFc deletions). An absence of only two of the DAZ genes (eg. DAZ1 and DAZ2) has also been associated with impaired spermatogenesis. Notably both AZFc deletions and the smaller nested deletions show incomplete penetrance and inter-individual (sometimes between father and son) variation in phenotype. A single study suggested that one of the deletions of the Y chromosome in AZFC region (designated gr/gr) also causes a slight increase in susceptibility to testicular germ cell tumors [Nathanson et al 2005].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
To our knowledge, DAZ1-only deletions or duplications have not been reported in the peer reviewed literature.

Genomic View

Select assembly: (NC_000024.9) (NC_000024.10)