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

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Idiopathic male infertility	Likely pathogenic; Pathogenic	rs2546477191, rs2546477159	RCV003329111 RCV003329112	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
DAZL-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reclassified - variant of unknown significance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	24015185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16123080, 28364521, 9294855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	19006796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	26989066	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	12414900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16228988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19865085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	11499325, 33786731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	30277654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18664619	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	12414900, 16123080, 9294855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	19006796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	16884537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10527983, 16719785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10527983, 16719785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	16228988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31754036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG	23666240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DAZL (deleted in azoospermia like)