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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spermatogenic failure, and azoospermia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000003.12 NC_018914.2 NT_022517.19

Regulatory elements:

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 Chromatin IP Primers for DAZL

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See DAZL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001177740.1 NP_001342.2

ENSEMBL proteins:

ENSP00000250863 ENSP00000382373 ENSP00000398109

DAZL Human Recombinant Protein Products:

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	Novus Biologicals DAZL Protein Novus Biologicals DAZL Lysate
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	Cloud-Clone Corp. Proteins for DAZL

DAZL Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DAZL
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	OriGene Antibodies for DAZL OriGene Custom Antibody Services for DAZL
	Novus Biologicals DAZL Antibodies
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	Cloud-Clone Corp. Antibodies for DAZL
	ThermoFisher Antibodies for DAZL
	LSBio Antibodies in human, mouse, rat for DAZL

DAZL Assay Products:

	Browse Kits and Assays available from EMD Millipore
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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)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): Selected molecular function terms (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	TAS	8968755
GO:0003730	mRNA 3'-UTR binding	IEA	--
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: Let us create your new Knockout/Knockin mouse model for DAZL

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:		miRTarBase miRNAs that target DAZL: hsa-mir-335-5p (MIRT016720)

		Block miRNA regulation of human, mouse, rat DAZL using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for DAZL
		Predesigned siRNA for gene silencing in human, mouse, rat DAZL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DAZL

Clone Products:		OriGene clones in human, mouse for DAZL (see all 11) 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 all 2): DAZL (NM_001351)
		Sino Biological Human cDNA Clone for DAZL
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAZL
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DAZL
		Browse ESI BIO Cell Lines and PureStem Progenitors for DAZL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZL

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DAZL_HUMAN, Q92904: 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)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
nucleus	3

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

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

DAZL for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DAZL About

See pathways by source

SuperPath

Contained pathways About

Translational Control

Translational Control

Ovarian Infertility Genes

Ovarian Infertility Genes

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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for DAZL
Interactions:

GeneGlobe Interaction Network for DAZL

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

Selected Interacting proteins for DAZL (Q92904³ ENSP00000382373⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

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
DYNC1I1	O14576³, ENSP00000320130⁴	I2D: score=1 STRING: ENSP00000320130

About this table

Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007281	germ cell development	IEA	--
GO:0007283	spermatogenesis	IEA	--
GO:0045836	positive regulation of meiosis	IEA	--
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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

DAZL for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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:		Block miRNA regulation of human, mouse, rat DAZL using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for DAZL
		Predesigned siRNA for gene silencing in human, mouse, rat DAZL

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		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

Primer Products:		OriGene qPCR primer pairs and template standards for DAZL OriGene qSTAR qPCR primer pairs in human, mouse for DAZL
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat DAZL
		QuantiTect SYBR Green Assays in human, mouse, rat DAZL
		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

Selected AceView cDNA sequences (see all 52):

NM_001351 AL705991 BX648638 BI464024 BI461267 BG723910 BG718804 BG210841

BX088864 BG771817 BG207704 U66078 CD300236 BF980336 BI464057 BI829533

BU569412 BI459106 BI460958 AL044707 BU853969 AA774538 CD557344 U66726

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DAZL expression in normal human tissues (normalized intensities)
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
selected tissues (see all 7) fully expand


Gonad (Reproductive System) fully expand to see all 9 entries
Primordial Germ Cells Primitive Gonad
Primordial germ-like cells

Germ Cells (Reproductive System) fully expand to see all 5 entries
Primordial germ-like cells

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

Testis (Reproductive System) fully expand to see all 2 entries
XY Germ Cells Testis Cord

Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 3 entries
ES-J1

DAZL Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DAZL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.131179

UniProtKB/Swiss-Prot: DAZL_HUMAN, Q92904

Tissue specificity: Testis specific

Custom PCR Arrays for DAZL

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		Pre-validated RT² qPCR Primer Assay in human, mouse / rat DAZL
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		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)
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This gene was present in the common ancestor of animals.

Orthologs for DAZL gene from Selected species (see all 13) 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	DAZL⁶	Gallus gallus deleted in azoospermia-like (DAZL), ...	65(a)	1 → many	2(34939869-35003900)
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	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	25(a)	1 → many	3L(9091208-9123452)
worm (Caenorhabditis elegans)	Secernentea	daz-1⁶	Protein DAZ-1 (daz-1) mRNA, complete cds	15(a)	1 → many	II(5456305-5458616) WBGene00000935

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)
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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 DAZ3 DAZ4 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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
				--	--	--		--	--
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
rs150382499^1,2	C	--	16564095(+)	`AGTCAG/TATGTG`	2	--	int¹		0	--	--	--	--
rs2347312^1,2	C,A,H	--	16564318(+)	`AAAAAG/CTTTAT`	2	--	ut3¹		11		EA WA NA CSA	1843

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

Structural Variations
Database of Genomic Variants (DGV) Selected 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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing 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.)
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OMIM gene information: 601486 OMIM disorders: --

16 diseases for DAZL:
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spermatogenic failure azoospermia paraneoplastic syndromes infertility

paraneoplastic neurologic disorders seminoma male infertility premature ovarian failure

encephalomyelitis medulloblastoma lymphoblastic leukemia neuroblastoma

lung cancer leukemia neuronitis hiv-1

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

Male infertility Infertility

DAZL for disorders About GeneDecksing

Selected 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)
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PubMed articles for DAZL gene, integrated from 10 sources (see all 158):
(articles sorted by number of sources associating them with DAZL)

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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. (J. Clin. Endocrinol. Metab. 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. (Nat. Genet. 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. (Hum. Mol. Genet. 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. (J. Androl. 2010)
A putative human male infertility gene DAZLA: genomic structure and methylation status. (PubMed id 9294855)^{1, 2, 9} Chai N.-N.... Yen P.H. (Mol. Hum. Reprod. 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. (Hum. Mol. Genet. 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. (Int. J. Androl. 2006)
Association of DAZL haplotypes with spermatogenic failure in infertile men. (PubMed id 16730721)^{1, 4, 9} Teng Y.N....Kuo P.L. (Fertil. Steril. 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. (Genomics 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. (Zhonghua Nan Ke Xue 2007)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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:
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Deleted In Azoospermia-Like

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