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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1618
Gene name	Deleted in azoospermia like
Gene symbol	DAZL
Synonyms (NCBI Gene)	DAZHDAZL1DAZLASPGYLA
Chromosome	3
Chromosome location	3p24.3
Summary	The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cell

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918346	T>C,G	Risk-factor	Missense variant, coding sequence variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016720	hsa-miR-335-5p	Microarray	18185580
MIRT923605	hsa-miR-103a	CLIP-seq
MIRT923606	hsa-miR-107	CLIP-seq
MIRT923607	hsa-miR-1179	CLIP-seq
MIRT923608	hsa-miR-1251	CLIP-seq
MIRT923609	hsa-miR-1301	CLIP-seq
MIRT923610	hsa-miR-369-3p	CLIP-seq
MIRT923611	hsa-miR-374c	CLIP-seq
MIRT923612	hsa-miR-4310	CLIP-seq
MIRT923613	hsa-miR-4495	CLIP-seq
MIRT923614	hsa-miR-4789-5p	CLIP-seq
MIRT923615	hsa-miR-5047	CLIP-seq
MIRT923616	hsa-miR-548u	CLIP-seq
MIRT923617	hsa-miR-655	CLIP-seq
MIRT1973626	hsa-miR-3185	CLIP-seq
MIRT2209170	hsa-miR-3140-3p	CLIP-seq
MIRT2209171	hsa-miR-3647-3p	CLIP-seq
MIRT2209172	hsa-miR-522	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	8968755
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	10857750, 12511597, 16001084
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	31429579
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9288969
GO:0005840	Component	Ribosome	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0007147	Process	Female meiosis II	IEA
GO:0007281	Process	Germ cell development	IEA
GO:0007281	Process	Germ cell development	TAS	9288969
GO:0007283	Process	Spermatogenesis	IEA
GO:0008494	Function	Translation activator activity	IBA
GO:0008494	Function	Translation activator activity	IDA	16001084
GO:0008494	Function	Translation activator activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	IDA	10857750
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045836	Process	Positive regulation of meiotic nuclear division	IEA
GO:0045948	Process	Positive regulation of translational initiation	IBA
GO:0045948	Process	Positive regulation of translational initiation	IDA	16001084
GO:0045948	Process	Positive regulation of translational initiation	IEA
GO:0070935	Process	3'-UTR-mediated mRNA stabilization	IBA

MIM	HGNC	e!Ensembl
601486	2685	ENSG00000092345

Q92904

Protein name

Deleted in azoospermia-like (DAZ homolog) (DAZ-like autosomal) (Deleted in azoospermia-like 1) (SPGY-like-autosomal)

Protein function

RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translatio

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

Tissue specificity

TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:8896558, ECO:0000269|PubMed:8968755, ECO:0000269|PubMed:8968756}.

Sequence

MSTANPETPNSTISREASTQSSSAATSQGYILPEGKIMPNTVFVGGIDVRMDETEIRSFF
ARYGSVKEVKIITDRTGVSKGYGFVSFFNDVDVQKIVESQINFHGKKLKLGPAIRKQNLC
AYHVQPRPLVFNHPPPPQFQNVWTNPNTETYMQPTTTMNPITQYVQAYPTYPNSPVQVIT
GYQLPVYNYQMPPQWPVGEQRSYVVPPAYSAVNYHCNEVDPGAEVVPNECSVHEATPPSG
NGPQKKSVDRSIQTVVSCLFNPENRLRNSVVTQDDYFKDKRVHHFRRSRAMLKSV

Sequence length

295

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Idiopathic male infertility	Likely pathogenic; Pathogenic	rs2546477191, rs2546477159	RCV003329111 RCV003329112

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DAZL-related disorder	Benign; Likely benign	rs57842038, rs11710967, rs188966680, rs748066712, rs115317726, rs35729175	RCV003974530 RCV003984692 RCV003974008 RCV003961650 RCV003931392 RCV003978964
Reclassified - variant of unknown significance	Uncertain significance	rs121918346	RCV005414252

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrest of spermatogenesis	Associate	20685756
Azoospermia	Associate	19006796
Azoospermia	Inhibit	26989066
Breast Neoplasms	Associate	16228988
Infertility	Associate	19865085
Infertility Male	Associate	11499325, 33786731
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	15066460, 24803180
Medulloblastoma	Associate	18664619
Ovarian Cysts	Associate	19006796
Ovarian Dysgenesis 2	Associate	16884537
Seminoma	Associate	16228988

DAZL (deleted in azoospermia like)