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DAZ4 Gene

protein-coding   GIFtS: 49

GC0YP025389
deleted in azoospermia 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for DAZ4

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
pDP1680 2
pDP1681 2
Descriptions
deleted in azoospermia 1 2
deleted in azoospermia 4 2
External Ids
HGNC: 159661
Entrez Gene: 571352
UniProtKB: Q86SG33
Ensembl: ENSG000002059167
Search outside databases for aliases for DAZ4 gene

Previous GC identifers: GC0YU990030 GC0YM024120 GC0YM023614

Summaries
for DAZ4

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

 EntrezGene summary for DAZ4:
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 two copies of the 10.8 kb repeat.
Alternative splicing results in multiple transcript variants encoding different isoforms.
[provided by RefSeq]

UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3
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

Genomic Location
for DAZ4

(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 DAZ4 gene  

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

DAZ4 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 GC0YP025389:     (about GC identifiers)

Start:
 25,389,368 bp from pter
End:
 25,462,575 bp from pter
Size:
 73,208 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000024.8  NT_011903.12  

Proteins
for DAZ4

(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)
About This Section

 UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3 (See protein sequence)
Recommended Name: Deleted in azoospermia protein 4  
Size: 579 amino acids; 64785 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
Caution: DAZ4 is the only DAZ gene whose expression has not been clearly demonstrated.
PubMed:10936047 could not exclude the possibility that the transcript they isolated derives from
DAZ1
Secondary accessions: Q9NR88 Q9NR89
Alternative splicing: 2 isoforms:  Q86SG3-1   Q86SG3-2   

REFSEQ proteins (2 alternative transcripts): 
NP_001005375.1  NP_065153.1  


ENSEMBL proteins: 
ENSP00000371727 ENSP00000383340 ENSP00000383341 ENSP00000383342 ENSP00000371733 ENSP00000371742 
ENSP00000371751 ENSP00000371743 ENSP00000383344 ENSP00000371731 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Deleted in azoospermia 4)
Human Recombinant Proteins from Abnova (DAZ4)
              OriGene Purified Recombinant Human Protein: DAZ4 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0005737 cytoplasm IEA--
About this table

Antibodies for DAZ4: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for DAZ4
Browse R&D Systems for Antibodies
Antibodies from Abcam (Deleted in azoospermia 4), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (DAZ4)
Novus Biologicals Antibody for DAZ4

Assays for DAZ4: 
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Browse Kits and Assays available from Millipore
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Protein Domains/
Families
for DAZ4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro domains/families:
 IPR000504 RRM_RNP1
 IPR012677 a_b_plait_nuc_bd


   GeneDecks  DAZ4 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q86SG3

ProtoNet protein and cluster: Q86SG3

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

UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3
Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2
Similarity: Belongs to the RRM DAZ family
Similarity: Contains 9 DAZ-like domains
Similarity: Contains 2 RRM (RNA recognition motif) domains

Gene Function
for DAZ4

(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.)
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 2): NM_020420

              Applied Biosystems Silencer® siRNAs for DAZ4

              Sigma-Aldrich siRNA for DAZ4  
                     Sigma-Aldrich shRNA for DAZ4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for DAZ4
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005375
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005375
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001005375 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001005375

UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3
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 IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0003723 RNA binding IEA--
About this table

Pathways & Interactions
for DAZ4

(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


  --

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

GO IDQualified GO termEvidencePubMed IDs
GO:0007275 multicellular organismal development IEA--
GO:0007283 spermatogenesis IEA--
GO:0030154 cell differentiation IEA--
About this table

Drugs & Compounds
for DAZ4

(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 DAZ4

Transcripts
for DAZ4

(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 2): NM_020420

              Sigma-Aldrich siRNA for DAZ4  
                     Sigma-Aldrich shRNA for DAZ4  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001005375  NM_020420  

REFSEQ mRNAs for DAZ4 gene (2 alternative transcripts): 

NM_001005375.1   NM_020420.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001005375  NM_020420  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001005375
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001005375
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001005375 

Additional cDNA sequence: 

AF248481.1 AF248482.1 AF248483.1 AF271087.1 AF271088.1 AL833003.1 BC047480.1 BC047617.1 
BC113005.1 

13 DOTS entries:

DT.113441  DT.120652058  DT.120653923  DT.95094557  DT.120651970  DT.100751936  DT.120653754  DT.120653918 
DT.100014718  DT.120652050  DT.120652060  DT.95094558  DT.101980951 

12 AceView cDNA sequences:

AA136143 AA128463 BG771514 BC047480 U66077 NM_004081 BI561663 AF248482 
AL705202 AA129915 BI562231 AA136029 

highest scoring ESTs for DAZ4:

AF271088 AF248483 AA126506 AF271087 DB241949 BC047480 BC047617 NM_020420 AL833003 AF248482 

Unigene Cluster for DAZ4:

Deleted in azoospermia 4
Hs.70936  [show with all ESTs]
Unigene Representative Sequence: NM_001005375


GeneLoc Exon Structure

10 Ensembl transcripts including schematic representations:
ENST00000382290  ENST00000400493  ENST00000400494  ENST00000400495  ENST00000382296  ENST00000382305  
ENST00000382314  ENST00000382306  ENST00000400498  ENST00000382294  

Expression
for DAZ4

(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

DAZ4 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for DAZ4

1 / 2 / 3

13 probe-sets matching DAZ4 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

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, 3 U133-A 5 1.00 0.25 -- -- AF248483 0.40 1.00 0.76 1

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 0.80 0.81 0.81 1

208281_x_at2, 3 U133-A 5 1.00 0.24 -- -- NM_020364 0.40 0.42 0.41 1

207909_x_at2, 3 U133-A 5 1.00 0.24 -- -- U21663 0.40 0.12 0.30 2

208282_x_at2, 3 U133-A 5 1.00 0.23 -- -- NM_020363 0.20 0.08 0.15 2

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: ACTTTGTCCA

SOURCE GeneReport for Unigene cluster: Hs.70936

Expression variation in blood from EXPOLDB for DAZ4

UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3
Tissue specificity: Testis specific

Orthologs
for DAZ4

(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 DAZ4 gene from 1 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
chimpanzee
(Pan troglodytes)		 DAZ11   -- deleted in azoospermia 1 96.92(n)
92.89(a)		 749905  XM_001172156.1  XP_001172156.1 
About this table        Species with no ortholog for DAZ4

ENSEMBL Gene Tree for DAZ4

Paralogs
for DAZ4

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

Paralogs for DAZ4 gene
DAZ11 2  DAZL2  DAZ32  DAZ22  BOLL2  

SNPs/Variants
for DAZ4

(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: DAZ4_HUMAN, Q86SG3
Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs
within the population

Disorders & Mutations
for DAZ4

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

 UniProtKB/Swiss-Prot: DAZ4_HUMAN, Q86SG3
  • 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

    • 6 Novoseek disease relationships for DAZ4 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 91.40 30 10202890 (2), 15081113 (2), 10527983 (1), 14666162 (1) (see all 22)
    klinefelters syndrome 68.66 3 10202890 (3)
    infertility male 61.58 1 11604102 (1)
    oligozoospermia 56.86 1 12200456 (1)
    karyotype abnormal 56.78 1 9880685 (1)
    infertility 51.39 3 9880685 (1), 17526644 (1), 9490306 (1)
    About this table

    Human Genome Epidemiology Navigator: DAZ4 (1 document)

    Medical News
    for DAZ4

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

    Publications
    for DAZ4

    (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

    		10/53 PubMed articles for DAZ4 gene (see all 53 ):

    Search for DAZ4

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing DAZ4

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 57135 HGNC: 15966 AceView: DAZ.2 Ensembl:ENSG00000205916 euGenes: HUgn57135
    ECgene: DAZ4 H-InvDB: DAZ4

    Other Databases showing DAZ4

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing DAZ4

    (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 DAZ4

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for DAZ4

    (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)
    About This Section



    Products for DAZ4:
     TaqMan ® Gene Expression Assays
    		  Free SNP selection tool



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     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (Deleted in azoospermia 4)
     Antibodies (Deleted in azoospermia 4)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for DAZ4




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for DAZ4

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