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	57055
Gene name	Deleted in azoospermia 2
Gene symbol	DAZ2
Synonyms (NCBI Gene)	pDP1678
Chromosome	Y
Chromosome location	Yq11.223
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
MIRT923348	hsa-miR-1270	CLIP-seq
MIRT923349	hsa-miR-203	CLIP-seq
MIRT923350	hsa-miR-3140-5p	CLIP-seq
MIRT923351	hsa-miR-3682-5p	CLIP-seq
MIRT923352	hsa-miR-3923	CLIP-seq
MIRT923353	hsa-miR-4276	CLIP-seq
MIRT923354	hsa-miR-4302	CLIP-seq
MIRT923355	hsa-miR-432	CLIP-seq
MIRT923356	hsa-miR-4434	CLIP-seq
MIRT923357	hsa-miR-4516	CLIP-seq
MIRT923358	hsa-miR-4531	CLIP-seq
MIRT923359	hsa-miR-4766-5p	CLIP-seq
MIRT923360	hsa-miR-548u	CLIP-seq
MIRT923361	hsa-miR-561	CLIP-seq
MIRT923362	hsa-miR-620	CLIP-seq
MIRT923363	hsa-miR-628-3p	CLIP-seq
MIRT923364	hsa-let-7a	CLIP-seq
MIRT923365	hsa-let-7b	CLIP-seq
MIRT923366	hsa-let-7c	CLIP-seq
MIRT923367	hsa-let-7d	CLIP-seq
MIRT923368	hsa-let-7e	CLIP-seq
MIRT923369	hsa-let-7f	CLIP-seq
MIRT923370	hsa-let-7g	CLIP-seq
MIRT923371	hsa-let-7i	CLIP-seq
MIRT923372	hsa-miR-1304	CLIP-seq
MIRT923373	hsa-miR-202	CLIP-seq
MIRT923374	hsa-miR-3140-3p	CLIP-seq
MIRT923375	hsa-miR-4458	CLIP-seq
MIRT923376	hsa-miR-4500	CLIP-seq
MIRT923377	hsa-miR-4777-5p	CLIP-seq
MIRT923378	hsa-miR-513a-3p	CLIP-seq
MIRT923379	hsa-miR-518d-5p	CLIP-seq
MIRT923380	hsa-miR-519b-5p	CLIP-seq
MIRT923381	hsa-miR-519c-5p	CLIP-seq
MIRT923382	hsa-miR-520c-5p	CLIP-seq
MIRT923383	hsa-miR-526a	CLIP-seq
MIRT923384	hsa-miR-98	CLIP-seq
MIRT923385	hsa-miR-4733-5p	CLIP-seq
MIRT923386	hsa-miR-606	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:0003723	Function	RNA binding	TAS	7670487
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	10857750, 32296183
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:0007338	Process	Single fertilization	TAS	8896558
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
400026	15964	ENSG00000205944

Q13117

Protein name

Deleted in azoospermia protein 2

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
PF18872	Daz	458 → 478	Daz repeat	Repeat
PF18872	Daz	482 → 502	Daz repeat	Repeat
PF18872	Daz	506 → 526	Daz repeat	Repeat

Tissue specificity

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

Sequence

MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLC
ARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQAYSAYPHSPGQVIT
GCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPAYPRSPFQVTAGYQLPVYNYQAF
PAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQAFPAYPNSPFQVAT
GYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAF
PAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTT
GYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAF
PAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVGEQRRNL
WTEAYKWWYLVCLIQRRD

Sequence length

558

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 (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	15744033, 37365340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	11870237, 15347736, 24878370		★★★★★ ★☆☆☆☆ 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

DAZ2 (deleted in azoospermia 2)