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DAZ2 Gene

protein-coding GIFtS: 43

GC0YP023703

deleted in azoospermia 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
MGC126442 ^¹, ²
pDP1678 ^¹, ²

Descriptions
deleted in azoospermia 2 ^²

External Ids
HGNC: 15964¹
Entrez Gene: 57055²
UniProtKB: Q13117³
Ensembl: ENSG00000205944⁷

Search outside databases for aliases for DAZ2 gene

Previous GC identifers: GC0YP024520 GC0YP024210

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

EntrezGene summary for DAZ2:

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 for spermatogenesis. Four

copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes

is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains

a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is

variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene

also contains a 10.8 kb region that may be amplified; this region includes five exons that encode

an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat.

Alternative splicing results in multiple transcript variants encoding different isoforms.

[provided by RefSeq]

UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117

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

Gene Wiki entry for DAZ2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the DAZ2 gene

Entrez Gene cytogenetic band: Yq11.223 Ensembl cytogenetic band: Yq11.223 HGNC cytogenetic band: Yq11

DAZ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome Y GeneLoc Exon Structure

GeneLoc location for GC0YP023703: (about GC identifiers)

Start:	23,774,982 bp from pter
End:	23,846,891 bp from pter
Size:	71,910 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000024.8 NT_011903.12

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117 (See protein sequence)

Recommended Name: Deleted in azoospermia protein 2

Size: 558 amino acids; 63111 Da

Subunit: Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and

DZIP3

Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear at some stages of

spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide

differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the

cytoplasm during male meiosis

Miscellaneous: The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated

region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They

are very similar, which gives their indidual characterization difficult. Thus, most experiments do

not discriminate between the different members. One can therefore suppose that reported

interactions with a DAZ protein involve all the 4 proteins

Secondary accessions: Q2KHN6 Q96P41 Q9NR91

Alternative splicing: 3 isoforms: Q13117-1 Q13117-2 Q13117-3

REFSEQ proteins (3 alternative transcripts):

NP_001005785.1 NP_001005786.1 NP_065096.1

ENSEMBL proteins:

ENSP00000371861 ENSP00000371871 ENSP00000371868 ENSP00000371869 ENSP00000371877 ENSP00000371887

ENSP00000371870

Human Recombinant Proteins

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Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

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

About this table

Antibodies for DAZ2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for DAZ2
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for DAZ2

Assays for DAZ2:

	Browse Invitrogen for biochemical assays
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	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry Q13117

ProtoNet protein and cluster: Q13117

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

UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117

Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2

Similarity: Belongs to the RRM DAZ family

Similarity: Contains 15 DAZ-like domains

Similarity: Contains 1 RRM (RNA recognition motif) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001005785

Applied Biosystems Silencer® siRNAs for DAZ2

Sigma-Aldrich siRNA for DAZ2

Sigma-Aldrich shRNA for DAZ2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001005785
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001005785
untagged cDNA clones in CMV expression vector (see all 3): NM_001005785

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_020363

UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117

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

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003723	RNA binding	TAS	7670487

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007283	spermatogenesis	IEA	--
GO:0007338	single fertilization	TAS	8896558
GO:0030154	cell differentiation	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for DAZ2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001005785

Sigma-Aldrich siRNA for DAZ2

Sigma-Aldrich shRNA for DAZ2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001005785 NM_001005786 NM_020363

REFSEQ mRNAs for DAZ2 gene (3 alternative transcripts):

NM_001005785.1 NM_001005786.1 NM_020363.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001005785 NM_001005786 NM_020363

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001005785
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001005785
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001005785

Additional cDNA sequence:

AF248480.1 AF414184.1 AK302398.1 AK302690.1 BC036648.1 BC113006.1 U21663.1 U66077.1

12 DOTS entries:

DT.100751936 DT.91652055 DT.100014718 DT.101980951 DT.120652060 DT.120653754 DT.120653918 DT.95094558

DT.120651970 DT.120652050 DT.120653919 DT.95094557

16 AceView cDNA sequences:

AA128463 U66077 AA136143 AF414184 AL705202 BG771514 BI561663 BI562231

NM_020364 AF248481 AA129915 NM_020363 BC036648 AF248480 AA136029 BG724038

highest scoring ESTs for DAZ2:

AF248480 AF414184 DB022852 DB243719 NM_020363 AA669753 BC113006 AA121631 AA126633 AA133797

Unigene Cluster for DAZ2:

Deleted in azoospermia 2

Hs.592257 [show with all ESTs]

Unigene Representative Sequence: AK302690

GeneLoc Exon Structure

7 Ensembl transcripts including schematic representations:

ENST00000382424 ENST00000382434 ENST00000382431 ENST00000382432 ENST00000382440 ENST00000382449

ENST00000382433

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

DAZ2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for DAZ2

¹ / ² / ³

13 probe-sets matching DAZ2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40342_at²^{, 3}	U95-A	5	1.00	0.24	1.00	1.00	U66077	0.60	0.20	0.45	2
216351_x_at²	U133-A	5	1.00	0.25	--	--	--	--	--	--	--
207912_s_at²^{, 3}	U133-A	4	1.00	0.25	--	--	NM_004081	0.20	0.08	0.15	2
216922_x_at²^{, 3}	U133-A	5	1.00	0.25	--	--	AF271088	0.20	0.06	0.15	2
208281_x_at²^{, 3}	U133-A	5	1.00	0.24	--	--	NM_020364	0.20	0.08	0.15	2
207909_x_at²^{, 3}	U133-A	5	1.00	0.24	--	--	U21663	0.60	0.38	0.50	1
208282_x_at²^{, 3}	U133-A	5	1.00	0.23	--	--	NM_020363	0.60	0.75	0.68	1
216351_x_at²	U133Plus2	5	1.00	0.25	--	--	--	--	--	--	--
207912_s_at²	U133Plus2	4	1.00	0.25	--	--	--	--	--	--	--
216922_x_at²	U133Plus2	5	1.00	0.25	--	--	--	--	--	--	--
208281_x_at²	U133Plus2	5	1.00	0.24	--	--	--	--	--	--	--
207909_x_at²	U133Plus2	5	1.00	0.24	--	--	--	--	--	--	--
208282_x_at²	U133Plus2	5	1.00	0.23	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.592257
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117
Tissue specificity: Testis specific

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DAZ2 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	DAZ2¹	--	deleted in azoospermia 2	94.88(n) 89.89(a)	738583 XM_001137968.1 XP_001137968.1
rat (Rattus norvegicus)	Dazl¹	--	deleted in azoospermia-like	77.73(n) 70.88(a)	680486 XM_001057401.1 XP_001057401.1
mouse (Mus musculus)	Dazl¹	--	deleted in azoospermia-like	77.3(n) 70.88(a)	13164 NM_010021.3 NP_034151.2

About this table Species with no ortholog for DAZ2

ENSEMBL Gene Tree for DAZ2

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

Paralogs for DAZ2 gene

DAZL² DAZ1² DAZ3² DAZ4² BOLL²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117

Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs

within the population

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 400026

UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117

AZFc deletions in the Yq11.23 region, including the DAZ genes, are a cause of azoospermia

or oligospermia. They lead to male infertility due to impaired spermatogenesis and are found 2-10%

of azoospermic or severe oligospermic males. Some AZFc deletions remove only the DAZ and DAZ2

genes and cause severe oligozoospermia

Human Gene Mutation Database: DAZ2
Human Genome Epidemiology Navigator: DAZ2 (6 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

ENDO: Gene Causing Male Infertility is Identified

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

10/31 PubMed articles for DAZ2 gene (see all 31 ):

Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PubMed id 10936047)^{2, 3, 4} Saxena R.... Page D.C. (2000)
High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PubMed id 11870237)^{1, 3, 4} Fernandes S.... Vogt P.H. (2002)
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)^{3, 4} Skaletsky H....Page D.C. (2003)
Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis? (PubMed id 12752250)^{3, 4} Vogt P.H. and Fernandes S. (2003)
Partial DAZ deletions in a family with five infertile brothers. (PubMed id 12801575)^{3, 4} Gianotten J....van der Veen F. (2003)
Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PubMed id 12511597)^{3, 4} Moore F.L....Pera R.A. (2003)
A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PubMed id 11390979)^{3, 4} Xu E.Y.... Reijo Pera R.A. (2001)
Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. (PubMed id 11095434)^{3, 4} Moro E.... Foresta C. (2000)
Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1. (PubMed id 10857750)^{3, 4} Tsui S.... Yen P.H. (2000)
In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein. (PubMed id 10903443)^{3, 4} Ruggiu M. and Cooke H.J. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

Entrez Gene: 57055	HGNC: 15964	AceView: DAZ	Ensembl:ENSG00000205944	euGenes: HUgn57055
ECgene: DAZ2	H-InvDB: DAZ2

(According to HUGE)
About This Section

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

Licensable Technologies for DAZ2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for DAZ2:

TaqMan ® Gene Expression Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for DAZ2-related products

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DAZ2 Gene

protein-coding GIFtS: 43

Aliases &
Descriptions
for DAZ2

Summaries
for DAZ2

Genomic Location
for DAZ2

Proteins
for DAZ2

Protein Domains/
Families
for DAZ2

Gene Function
for DAZ2

Pathways & Interactions
for DAZ2

Drugs & Compounds
for DAZ2

Transcripts
for DAZ2

Expression
for DAZ2

Orthologs
for DAZ2

Paralogs
for DAZ2

SNPs/Variants
for DAZ2

Disorders & Mutations
for DAZ2

Medical News
for DAZ2

Publications
for DAZ2

Search for DAZ2

Genome Databases showing DAZ2

Other Databases showing DAZ2

Specialized Databases showing DAZ2

Licensable Technologies
for DAZ2

Services
for DAZ2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

DAZ2 Gene

protein-coding GIFtS: 43

Aliases & Descriptionsfor DAZ2

Summariesfor DAZ2

Genomic Locationfor DAZ2

Proteinsfor DAZ2

Protein Domains/Familiesfor DAZ2

Gene Functionfor DAZ2

Pathways & Interactionsfor DAZ2

Drugs & Compoundsfor DAZ2

Transcriptsfor DAZ2

Expression for DAZ2

Orthologsfor DAZ2

Paralogsfor DAZ2

SNPs/Variantsfor DAZ2

Disorders & Mutationsfor DAZ2

Medical Newsfor DAZ2

Publicationsfor DAZ2

Search for DAZ2

Genome Databases showing DAZ2

Other Databases showing DAZ2

Specialized Databases showing DAZ2

Licensable Technologiesfor DAZ2

Servicesfor DAZ2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for DAZ2

Summaries
for DAZ2

Genomic Location
for DAZ2

Proteins
for DAZ2

Protein Domains/
Families
for DAZ2

Gene Function
for DAZ2

Pathways & Interactions
for DAZ2

Drugs & Compounds
for DAZ2

Transcripts
for DAZ2

Expression
for DAZ2

Orthologs
for DAZ2

Paralogs
for DAZ2

SNPs/Variants
for DAZ2

Disorders & Mutations
for DAZ2

Medical News
for DAZ2

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for DAZ2

Licensable Technologies
for DAZ2

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