DAZ2

deleted in azoospermia 2, the group of RNA binding motif containing|DAZ RNA binding protein family

Basic information

Region (hg38): Y:23219446-23291356

Links

ENSG00000205944

∙ NCBI:57055 ∙ OMIM:400026 ∙ HGNC:15964 ∙ Uniprot:Q13117 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DAZ2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAZ2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAZ2	protein_coding	protein_coding	ENST00000382440	27	71910

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.288	0.501	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.171	1	0.622	1.61	8.40e-8	4157
Missense in Polyphen		0	0.30844	0		1216
Synonymous	0.337	0	0.183	0.00	2.49e-8	1240
Loss of Function	0.249	0	0.0724	0.00	9.52e-9	680

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: 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.;
Disease: DISEASE: Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. {ECO:0000269|PubMed:11095434, ECO:0000269|PubMed:11870237, ECO:0000269|PubMed:12801575}. Note=The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.;

Haploinsufficiency Scores

pHI: 0.157
hipred
hipred_score
ghis: 0.394

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene ontology

Biological process: multicellular organism development;germ cell development;spermatogenesis;single fertilization;positive regulation of translational initiation;3'-UTR-mediated mRNA stabilization
Cellular component: nucleus;cytoplasm;protein-containing complex
Molecular function: RNA binding;mRNA 3'-UTR binding;protein binding;translation activator activity