DAZ2 Gene
protein-coding GIFtS: 48
GCID: GC0YP025365
|
|
deleted in azoospermia 2
| |
Aliases
for DAZ2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Deleted In Azoospermia 21 2 | | PDP16781 | | MGC1264421 | | Deleted In Azoospermia Protein 22 |
Export aliases for DAZ2 gene to outside databasesPrevious GC identifers: GC0YP024520 GC0YP024210 GC0YP023703 GC0YP023775 |
Summaries
for DAZ2 gene(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 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-bindingprotein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromicduplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Eachgene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable andthere are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb regionthat may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This genecontains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encodingdifferent isoforms. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR ofmRNAs and regulating their translation
Gene Wiki entry for DAZ2
|
Genomic Views
for DAZ2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000024.9 NT_011903.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DAZ2 gene promoter:
MEF-2A SRY p53 aMEF-2 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for DAZ2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAZ2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Yq11.223 Ensembl cytogenetic band: Yq11.223 HGNC cytogenetic band: Yq11DAZ2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome Y GeneLoc Exon Structure GeneLoc location for GC0YP025365: view genomic region
(about GC identifiers)
Start:
|
25,365,594 bp from pter |
End:
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25,437,503 bp from pter |
Size:
|
71,910 bases |
Orientation:
|
plus strand |
|
Proteins
for DAZ2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 spermatozoidedevelopment. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytesand 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 Ychromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives theirindidual characterization difficult. Thus, most experiments do not discriminate between the different members. One cantherefore suppose that reported interactions with a DAZ protein involve all the 4 proteins
Secondary accessions: Q2KHN6 Q96P41 Q9NR91Alternative splicing: 3 isoforms: Q13117-1 Q13117-2 Q13117-3 Explore the universe of human proteins at neXtProt for DAZ2: NX_Q13117
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13117
DAZ2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001005785.1 NP_001005786.2 NP_065096.2
ENSEMBL proteins: ENSP00000371887 ENSP00000371870 ENSP00000371877 ENSP00000440721 ENSP00000371743 ENSP00000414113 ENSP00000371731 ENSP00000371861 ENSP00000383340 ENSP00000371868 ENSP00000371871
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
DAZ2 for ontologies About GeneDecksing
DAZ2 Antibody Products:
Assay Products for DAZ2: |
Protein
Domains /
Families
for DAZ2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DAZ2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13117ProtoNet protein and cluster: Q13117 1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2Similarity: Belongs to the RRM DAZ familySimilarity: Contains 15 DAZ-like domainsSimilarity: Contains 1 RRM (RNA recognition motif) domain |
Function
for DAZ2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR ofmRNAs and regulating their translation
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DAZ2 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZ2 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
DAZ2 for ontologies About GeneDecksing
|
Pathways & Interactions
for DAZ2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DAZ2
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for DAZ2 (ENSP000003718704) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
DAZ2 for ontologies About GeneDecksing
|
Drugs & Compounds
for DAZ2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DAZ2
Search CenterWatch for drugs/clinical trials and news about DAZ2
|
Transcripts
for DAZ2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DAZ2 gene (3 alternative transcripts): NM_001005785.2 NM_001005786.2 NM_020363.3 Unigene Cluster for DAZ2: Deleted in azoospermia 2 Hs.592257 [show with all ESTs]Unigene Representative Sequence: AK30269011 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000382449(uc004fvu.3 uc011nbo.2) ENST00000382433 ENST00000382440(uc022cok.1 uc022col.1 uc022con.1 uc022coo.1 uc004fvw.3 uc004fvr.3 uc004fvs.3 uc004fvt.3 uc011nbl.2 uc004fvq.3)
ENST00000536288 ENST00000382306(uc022com.1) ENST00000449947 ENST00000382294
ENST00000382424(uc010nxl.1) ENST00000400493 ENST00000382431 ENST00000382434
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DAZ2 (see all 3)
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OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): DAZ2 (NM_020363) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF248480.1 AF414184.1 AK302398.1 AK302690.1 BC036648.1 BC113006.1 U21663.1 8 DOTS entries: DT.100751936 DT.91652055 DT.95094558 DT.101980951 DT.120653923 DT.120651970 DT.120652050 DT.95094557 16 AceView cDNA sequences: BI561663 AA128463 BG771514 AL705202 AF414184 U66077 AA136143 AA129915 AF248481 BI562231 NM_020364 NM_020363 BC036648 AA136029 AF248480 BG724038
GeneLoc Exon Structure
|
Expression
for DAZ2 gene
(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
| DAZ2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DAZ2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DAZ2
SOURCE GeneReport for Unigene cluster: Hs.592257
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117Tissue specificity: Testis specific
SABiosciences Custom PCR Arrays for DAZ2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DAZ2
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DAZ2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DAZ2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZ2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZ2 |
Orthologs
for DAZ2 gene
(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 chordates.
Orthologs for DAZ2 gene from 3/9 species (see all 9) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DAZL6 |
deleted in azoospermia-like |
42(a) |
1 → many |
2(34385114-34398341) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
55(a) |
1 → many |
6(34873522-34886921) |
zebrafish
(Danio rerio) |
Actinopterygii |
dazl6 |
deleted in azoospermia-like |
35(a) |
1 → many |
19(20871401-20886168) |
ENSEMBL Gene Tree for DAZ2 (if available)
TreeFam Gene Tree for DAZ2 (if available) |
Paralogs
for DAZ2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DAZ2 gene
- DAZ12 DAZL2 DAZ32 DAZ42 BOLL2
8 SIMAP similar genes for DAZ2 using alignment to 8 protein entries: DAZ2_HUMAN (see all proteins):DAZ DAZ1 DAZ3 DAZ4 DAZL BOLL
RBMY1A1 DKFZp666C074
DAZ2 for paralogs About GeneDecksing
|
Genomic Variants
for DAZ2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs within the population
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr Y pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DAZ2 (25365594 - 25437503 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for DAZ2
11 CNVs: 33192 0834 4185 33193 97227 83967 97226 38830 2290 38829 83966
Human Gene Mutation Database (HGMD): DAZ2
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DAZ2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DAZ2 for disorders About GeneDecksing
OMIM gene information: 400026
OMIM disorders: --
UniProtKB/Swiss-Prot: DAZ2_HUMAN, Q13117
Defects in DAZ2 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is adisorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to maleinfertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic causeof human male infertility
10  diseases for DAZ2: About MalaCardsazoospermia sertoli cell-only syndrome cryptorchidism, idiopathic cryptorchidism
male infertility oligospermia infertility hermaphroditism
spermatogenic failure y chromosome infertility
4 diseases from the University of Copenhagen DISEASES database for DAZ2:Azoospermia Sertoli cell-only syndrome Oligospermia Infertility Human Genome Epidemiology (HuGE) Navigator: DAZ2 (6 documents)
Export disorders for DAZ2 gene to outside databases
|
Publications
for DAZ2 gene (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 DAZ2 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with DAZ2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PubMed id 10936047)1, 2, 3 Saxena R.... Page D.C. (2000)
- High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PubMed id 11870237)1, 2, 9 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)1, 2 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)1, 2 Vogt P.H. and Fernandes S. (2003)
- Partial DAZ deletions in a family with five infertile brothers. (PubMed id 12801575)1, 2 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)1, 2 Moore F.L.... Reijo 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)1, 2 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)1, 2 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)1, 2 Tsui S.... Yen P.H. (2000)
- In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein. (PubMed id 10903443)1, 2 Ruggiu M. and Cooke H.J. (2000)
|
External Searches for DAZ2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DAZ2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DAZ2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DAZ2 gene(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 DAZ2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DAZ2 gene:
Search GeneIP for patents involving DAZ2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DAZ2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DAZ2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DAZ2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DAZ2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DAZ2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DAZ2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DAZ2 |
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