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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DAZL Gene

protein-coding GIFtS: 61
GCID: GC03M016603

Deleted In Azoospermia-Like

(Previous symbol: DAZLA)

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Deleted In Azoospermia-Like¹ ²		SPGY-like-autosomal² ³
DAZLA¹ ² ³		DAZ Homolog² ³
DAZH² ³ ⁵		DAZ-Like Autosomal² ³
SPGYLA² ³ ⁵		Germline Specific RNA Binding Protein²
Deleted In Azoospermia-Like 1² ³		Spermatogenesis Gene On The Y-Like Autosomal²
DAZL1² ³

External Ids:	HGNC: 2685¹	Entrez Gene: 1618²	Ensembl: ENSG00000092345⁷	OMIM: 601486⁵	UniProtKB: Q92904³

Export aliases for DAZL gene to outside databases

Previous GC identifer: GC03M016557

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DAZL Gene:

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 cells and to the cytoplasm of developing oocytes. In the testis, this protein is

localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in

spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave

rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic

failure and infertility in males. Two transcript variants encoding different isoforms have been found for this

gene. (provided by RefSeq, Jun 2010)

GeneCards Summary for DAZL Gene:

DAZL (deleted in azoospermia-like) is a protein-coding gene. Diseases associated with DAZL include azoospermia, and infertility. GO annotations related to this gene include RNA binding and translation activator activity. An important paralog of this gene is DAZ1.

UniProtKB/Swiss-Prot: DAZL_HUMAN, Q92904

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 translation of key transcripts (By similarity)

Gene Wiki entry for DAZL Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.2 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DAZL gene promoter:
Max1 Pbx1a Pax-6 MEF-2A AREB6 FOXJ2 (long isoform) aMEF-2 FOXJ2 RSRFC4 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DAZL promoter sequence

Search SABiosciences Chromatin IP Primers for DAZL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAZL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p24.3 Ensembl cytogenetic band: 3p24.3 HGNC cytogenetic band: 3p24

DAZL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DAZL gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M016603: view genomic region (about GC identifiers)

Start:	16,628,299 bp from pter	End:	16,711,813 bp from pter
Size:	83,515 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DAZL_HUMAN, Q92904 (See protein sequence)

Recommended Name: Deleted in azoospermia-like

Size: 295 amino acids; 33178 Da

Subunit: Homodimer and heterodimer. Multiple DAZL RRMs can bind to a single RNA containing multiple GUU triplets

(By similarity). Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2

Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Predominantly cytoplasmic (By

similarity). Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization

from then onward (By similarity)

Secondary accessions: O15396 Q5HYB4 Q92909

Alternative splicing: 2 isoforms: Q92904-1 Q92904-2

Explore the universe of human proteins at neXtProt for DAZL: NX_Q92904

Explore proteomics data for DAZL at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q92904

DAZL Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001177740.1 NP_001342.2

ENSEMBL proteins:

ENSP00000250863 ENSP00000382373 ENSP00000398109

Human Recombinant Protein Products for DAZL:

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	Novus Biologicals DAZL Protein Novus Biologicals DAZL Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for DAZL

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005844	polysome	--	--

DAZL for ontologies About GeneDecksing

DAZL Antibody Products:

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Assay Products for DAZL:

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	Cloud-Clone Corp. ELISAs for DAZL Cloud-Clone Corp. CLIAs for DAZL

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

RBM: RNA binding motif (RRM) containing

2 InterPro protein domains:

IPR012677 Nucleotide-bd_a/b_plait

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry Q92904

ProtoNet protein and cluster: Q92904

1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

UniProtKB/Swiss-Prot: DAZL_HUMAN, Q92904

Domain: The DAZ-like domain mediates the interaction with DAZAP1 and DAZAP2

Similarity: Belongs to the RRM DAZ family

Similarity: Contains 1 DAZ-like domain

Similarity: Contains 1 RRM (RNA recognition motif) domain

DAZL for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DAZL_HUMAN, Q92904

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 translation of key transcripts (By similarity)

Genatlas biochemistry entry for DAZL:

deleted in azoospermia,autosomal-like,homolog of the mouse Dazla gene and the Drosophila boule (SPGY like

autosomal),expressed only in male gonad

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--
GO:0003730	mRNA 3'-UTR binding	--	--
GO:0005515	protein binding	IPI	16001084

DAZL for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for DAZL:

Increased G2M DNA content

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dazl):

endocrine/exocrine gland

reproductive system

DAZL for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Dazl^tm1Hjc for DAZL

inGenious Targeting Laboratory - Custom generated mouse model solutions for DAZL

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DAZL

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DAZL

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DAZL

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DAZL
		8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate DAZL (see all 22):
		hsa-miR-3938 hsa-miR-607 hsa-miR-3664-5p hsa-miR-4328 hsa-miR-488 hsa-miR-181a-2* hsa-miR-507 hsa-miR-629

		SwitchGear 3'UTR luciferase reporter plasmid: DAZL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for DAZL
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DAZL
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for DAZL (see all 12) OriGene ORF clones in mouse, rat for DAZL OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DAZL
		Search LifeMap BioReagents cell lines for DAZL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZL

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DAZL About

See pathways by source

SuperPath

Contained pathways About

Ovarian Infertility Genes

Ovarian Infertility Genes

Translational Control

Translational Control

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for DAZL

Translational Control

1 BioSystems Pathway for DAZL

Ovarian Infertility Genes

DAZL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DAZL

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/12 Interacting proteins for DAZL (Q92904³ ENSP00000382373⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DAZ1	Q9NQZ3³, ENSP00000384573⁴	I2D: score=3 STRING: ENSP00000384573
DAZAP1	Q96EP5³, ENSP00000233078⁴	I2D: score=2 STRING: ENSP00000233078
DCTN1	Q14203³, ENSP00000354791⁴	I2D: score=1 STRING: ENSP00000354791
DCTN2	Q13561³, ENSP00000408910⁴	I2D: score=1 STRING: ENSP00000408910
PUM2	Q8TB72³, ENSP00000338173⁴	I2D: score=1 STRING: ENSP00000338173

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007281	germ cell development	TAS	9288969
GO:0007283	spermatogenesis	IEA	--
GO:0045836	positive regulation of meiosis	--	--
GO:0045948	positive regulation of translational initiation	IDA	16001084

DAZL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DAZL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DAZL

2 Novoseek inferred chemical compound relationships for DAZL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vas-a	55.3	14	18088417 (8), 16228988 (2), 19573297 (1), 19602557 (1) (see all 5)
adenylate	0.705	4	10819768 (1)

Search CenterWatch for drugs/clinical trials and news about DAZL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DAZL gene (2 alternative transcripts):

NM_001190811.1 NM_001351.3

Unigene Cluster for DAZL:

Deleted in azoospermia-like

Hs.131179 [show with all ESTs]

Unigene Representative Sequence: NM_001190811

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000250863(uc003cba.3) ENST00000399444(uc003cbb.3) ENST00000454457

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DAZL
		8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate DAZL (see all 22):
		hsa-miR-3938 hsa-miR-607 hsa-miR-3664-5p hsa-miR-4328 hsa-miR-488 hsa-miR-181a-2* hsa-miR-507 hsa-miR-629

		SwitchGear 3'UTR luciferase reporter plasmid: DAZL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		OriGene clones in human, mouse for DAZL (see all 12) OriGene ORF clones in mouse, rat for DAZL OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see first 1): DAZL (NM_001351 NM_001190811)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAZL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZL
		Sirion Biotech Customized lentivirus for stable overexpression of DAZL Customized lentivirus expression plasmids for stable overexpression of DAZL

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		SABiosciences RT² qPCR Primer Assay in human, mouse / rat DAZL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DAZL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZL

Additional mRNA sequence:

AK303026.1 AK310341.1 BC027595.2 BX648638.1 U65918.1 U66078.1 U66726.2

2 DOTS entries:

DT.310516 DT.97804595

24/52 AceView cDNA sequences (see all 52):

NM_001351 AL705991 BX648638 CD557344 BG210841 BI459106 BF980336 BU569412

BI464024 U66726 BI464057 BG718804 BI463630 U65918 BI829533 BG723910

BI461267 BG771817 AA774538 BV199496 AW341566 U66078 BC027595 CD300236

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DAZL expression in normal human tissues (normalized intensities) DAZL embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATAAAAATA

About this image

DAZL expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/4 selected tissues (see all 4) fully expand


Testis (Reproductive System) fully expand to see all 4 entries
XY Germ Cells Testis Cord
testis ; cells in seminiferus ducts
sperm

Gonad (Reproductive System) fully expand to see all 4 entries
Primordial Germ Cells Primitive Gonad

Ovary (Reproductive System) fully expand to see all 3 entries
XX Germ Cells Ovigerous Cord
Ovarian tissue-dissociated cells (human)

Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 2 entries
ES-J1

See DAZL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DAZL

SOURCE GeneReport for Unigene cluster: Hs.131179

UniProtKB/Swiss-Prot: DAZL_HUMAN, Q92904

Tissue specificity: Testis specific

SABiosciences Custom PCR Arrays for DAZL

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		SABiosciences RT² qPCR Primer Assay in human, mouse / rat DAZL
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DAZL gene from 7/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dazl⁵	deleted in azoospermia-like	--		17 (25.86 cM) 50279394
chicken (Gallus gallus)	Aves	DAZL¹	deleted in azoospermia-like	73.38(n) 70.67(a)		374054 NM_204218.1 NP_989549.1
lizard (Anolis carolinensis)	Reptilia	--	--	65(a)	1 → many	6(34873464-34894381)
African clawed frog (Xenopus laevis)	Amphibia	dazl²	DAZ-like protein	77.98(n)		AF017778.1
zebrafish (Danio rerio)	Actinopterygii	dazl²	daz-like gene	73.65(n)		58039 AB018191.1
fruit fly (Drosophila melanogaster)	Insecta	bol⁶	boule	20(a)	1 → many	3L(9091208-9123452)
worm (Caenorhabditis elegans)	Secernentea	daz-1⁶	DAZ protein 1	11(a)	1 → many	II(5456305-5458616)

ENSEMBL Gene Tree for DAZL (if available)
TreeFam Gene Tree for DAZL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DAZL gene

DAZ1² DAZ3² DAZ4² DAZ2² BOLL²

8 SIMAP similar genes for DAZL using alignment to 3 protein entries: DAZL_HUMAN (see all proteins):

DAZ2 DAZ4 DAZ3 DAZ1 BOLL RBMY1A1

RBFOX2 HNRNPA2B1

DAZL for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for DAZL
PGOHUM00000233822 PGOHUM00000233854 PGOHUM00000234035 PGOHUM00000234068

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_069231⁴		--	--	see VAR_069231	2	R G	mis⁴		0	--	--	--	--
VAR_017781⁴		--	--	see VAR_017781	2	T A	mis⁴		0	--	--	--	--
rs1808518^1,2	C,F,A,H	--	16563813(+)	`ACTAAA/CTGATG`	2	--	int¹		102		NS NA EA PA EU CA WA	6430
rs61093575^1,2		--	16563879(+)	`ATTGGG/TAGTAC`	2	--	int¹		0	--	--	--	--
rs148268915^1,2		--	16563928(+)	`TTTTTG/TATTGC`	2	--	int¹		0	--	--	--	--
rs75148354^1,2	F	--	16563938(+)	`CATCCA/GTAAGA`	2	--	int¹		1		WA	118
rs17042440^1,2	C,F	--	16563984(+)	`GCAACC/TGCAAT`	2	--	int¹		3		NA	138
rs114093668^1,2	F	--	16564005(+)	`AAAAGG/TTCTAG`	2	--	int¹		1		WA	118
rs191152470^1,2		--	16564017(+)	`GATTAA/GGCCCA`	2	--	int¹		0	--	--	--	--
rs10510453^1,2	C,F,H	--	16564027(+)	`AAAGCG/ATACAG`	2	--	int¹		104		NS NA EA PA EU CA WA CSA	6304

HapMap Linkage Disequilibrium report for DAZL (16628299 - 16711813 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/12 variations for DAZL (see all 12): About this table

Variant ID	Type	Subtype	PubMed ID
nsv822025	CNV	Loss	20364138
nsv822019	CNV	Loss	20364138
dgv796n67	CNV	Loss	20364138
esv22139	CNV	Loss	19812545
nsv822018	CNV	Loss	20364138
nsv876586	CNV	Loss	21882294
nsv822021	CNV	Loss	20364138
nsv509814	CNV	Loss	20534489
nsv822024	CNV	Loss	20364138
dgv798n67	CNV	Loss	20364138

Human Gene Mutation Database (HGMD): DAZL

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 601486 OMIM disorders: --

15 diseases for DAZL: About MalaCards

azoospermia infertility paraneoplastic neurologic disorders paraneoplastic syndromes

seminoma male infertility premature ovarian failure encephalomyelitis

medulloblastoma acute lymphoblastic leukemia lymphoblastic leukemia neuroblastoma

lung cancer leukemia neuronitis

2 diseases from the University of Copenhagen DISEASES database for DAZL:

Male infertility Infertility

DAZL for disorders About GeneDecksing

10/16 Novoseek inferred disease relationships for DAZL gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
azoospermia	86.9	37	9783841 (2), 9294855 (2), 16123080 (2), 10527983 (1) (see all 26)
infertility male	74.1	17	9294855 (3), 16573709 (2), 17918711 (2), 8968756 (2) (see all 9)
paraneoplastic encephalomyelitis	70.6	1	8982120 (1)
oligozoospermia	70.5	5	9294855 (2), 16573709 (1), 16123080 (1)
infertility	52.4	5	20300286 (1), 11604102 (1), 17918711 (1), 14965334 (1)
sterility male	51.7	3	9143498 (2), 16844779 (1)
ovarian failure premature	50.8	2	10527983 (1)
chromosome deletion	38.4	1	10601091 (1)
paraneoplastic syndromes	27.4	1	10735272 (1)
seminoma	18.4	7	11956819 (3), 16228988 (2)

Genetic Association Database (GAD): DAZL
Human Genome Epidemiology (HuGE) Navigator: DAZL (12 documents)

Export disorders for DAZL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DAZL gene, integrated from 9 sources (see all 156):
(articles sorted by number of sources associating them with DAZL)

Utopia: connect your pdf to the dynamic
world of online information

Association of a single-nucleotide polymorphism of the deleted-in- azoospermia-like gene with susceptibility to spermatogenic failure. (PubMed id 12414900)^{1, 2, 4} Teng Y.-N.... Kuo P.-L. (2002)
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. (PubMed id 8896558)^{1, 2, 3} Saxena R....Page D.C. (1996)
A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. (PubMed id 8968755)^{1, 2, 9} Shan Z.... Vogt P.H. (1996)
Phenotypic Expression of Partial AZFc Deletions is Independent of the Variations in DAZL and BOULE in a Han Population. (PubMed id 19342699)^{1, 4, 9} Chen P....Yang Y. (2009)
A putative human male infertility gene DAZLA: genomic structure and methylation status. (PubMed id 9294855)^{1, 2, 9} Chai N.-N.... Yen P.H. (1997)
The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. (PubMed id 8968756)^{1, 2, 9} Yen P.H.... Salido E.C. (1996)
A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population. (PubMed id 16573709)^{1, 4, 9} Thangaraj K....Singh L. (2006)
Association of DAZL haplotypes with spermatogenic failure in infertile men. (PubMed id 16730721)^{1, 4, 9} Teng Y.N....Kuo P.L. (2006)
Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1. (PubMed id 10857750)^{1, 2, 9} Tsui S.... Yen P.H. (2000)
[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China] (PubMed id 17918711)^{1, 4, 9} Wen X.H....Wu W. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1618	HGNC: 2685	AceView: DAZL	Ensembl:ENSG00000092345	euGenes: HUgn1618
ECgene: DAZL	H-InvDB: DAZL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DAZL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DAZL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DAZL gene:
Search GeneIP for patents involving DAZL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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