Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57054
Gene name	Deleted in azoospermia 3
Gene symbol	DAZ3
Synonyms (NCBI Gene)	pDP1679
Chromosome	Y
Chromosome location	Yq11.23
Summary	This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important

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miRTarBase ID	miRNA	Experiments
MIRT923387	hsa-let-7a	CLIP-seq
MIRT923388	hsa-let-7b	CLIP-seq
MIRT923389	hsa-let-7c	CLIP-seq
MIRT923390	hsa-let-7d	CLIP-seq
MIRT923391	hsa-let-7e	CLIP-seq
MIRT923392	hsa-let-7f	CLIP-seq
MIRT923393	hsa-let-7g	CLIP-seq
MIRT923394	hsa-let-7i	CLIP-seq
MIRT923395	hsa-miR-1270	CLIP-seq
MIRT923396	hsa-miR-1304	CLIP-seq
MIRT923397	hsa-miR-202	CLIP-seq
MIRT923398	hsa-miR-203	CLIP-seq
MIRT923399	hsa-miR-3140-3p	CLIP-seq
MIRT923400	hsa-miR-3140-5p	CLIP-seq
MIRT923401	hsa-miR-3682-5p	CLIP-seq
MIRT923402	hsa-miR-3923	CLIP-seq
MIRT923403	hsa-miR-4276	CLIP-seq
MIRT923404	hsa-miR-4302	CLIP-seq
MIRT923405	hsa-miR-432	CLIP-seq
MIRT923406	hsa-miR-4434	CLIP-seq
MIRT923407	hsa-miR-4458	CLIP-seq
MIRT923408	hsa-miR-4500	CLIP-seq
MIRT923409	hsa-miR-4516	CLIP-seq
MIRT923410	hsa-miR-4531	CLIP-seq
MIRT923411	hsa-miR-4733-5p	CLIP-seq
MIRT923412	hsa-miR-4766-5p	CLIP-seq
MIRT923413	hsa-miR-4777-5p	CLIP-seq
MIRT923414	hsa-miR-513a-3p	CLIP-seq
MIRT923415	hsa-miR-518d-5p	CLIP-seq
MIRT923416	hsa-miR-519b-5p	CLIP-seq
MIRT923417	hsa-miR-519c-5p	CLIP-seq
MIRT923418	hsa-miR-520c-5p	CLIP-seq
MIRT923419	hsa-miR-526a	CLIP-seq
MIRT923420	hsa-miR-548u	CLIP-seq
MIRT923421	hsa-miR-561	CLIP-seq
MIRT923422	hsa-miR-606	CLIP-seq
MIRT923423	hsa-miR-620	CLIP-seq
MIRT923424	hsa-miR-628-3p	CLIP-seq
MIRT923425	hsa-miR-98	CLIP-seq
MIRT923403	hsa-miR-4276	CLIP-seq
MIRT923404	hsa-miR-4302	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	10857750, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	31429579
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008494	Function	Translation activator activity	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	IDA	10857750
GO:0032991	Component	Protein-containing complex	IEA
GO:0045948	Process	Positive regulation of translational initiation	IBA
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IBA

MIM	HGNC	e!Ensembl
400027	15965	ENSG00000187191

Q9NR90

Protein name

Deleted in azoospermia protein 3

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	42 → 109	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF18872	Daz	170 → 190	Daz repeat	Repeat
PF18872	Daz	194 → 214	Daz repeat	Repeat
PF18872	Daz	218 → 238	Daz repeat	Repeat
PF18872	Daz	242 → 262	Daz repeat	Repeat
PF18872	Daz	266 → 286	Daz repeat	Repeat
PF18872	Daz	290 → 310	Daz repeat	Repeat
PF18872	Daz	314 → 334	Daz repeat	Repeat
PF18872	Daz	338 → 358	Daz repeat	Repeat
PF18872	Daz	362 → 382	Daz repeat	Repeat
PF18872	Daz	386 → 406	Daz repeat	Repeat
PF18872	Daz	410 → 430	Daz repeat	Repeat
PF18872	Daz	434 → 454	Daz repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:10936047}.

Sequence

MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLC
ARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQAYSAYPHSPGQVIT
GCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPAYPRSPFQVTAGYQLPVYNYQAF
PAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQAFPAYPNSPFQVAT
GYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAF
PAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTT
GYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVC
LIQRRD

Sequence length

486

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHROMOSOME Y MICRODELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE, Y-LINKED, 2	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	BEFREE	26232607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	33093613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33093613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	15520406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37365340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	26232607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial chromosome Y deletion	Partial Chromosome Y Deletion	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure, Nonobstructive, Y-Linked	Nonobstructive Spermatogenic Failure, Y-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	17211466		★★★★★ ★☆☆☆☆ Found in Text Mining only

DAZ3 (deleted in azoospermia 3)