Human Gene DAZ2 (ENST00000382306.6) Description and Page Index
  Description: Homo sapiens deleted in azoospermia 2 (DAZ2), transcript variant 2, mRNA. (from RefSeq NM_001005785)
RefSeq Summary (NM_001005785): 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, Jul 2008].
Gencode Transcript: ENST00000382306.6
Gencode Gene: ENSG00000205944.11
Transcript (Including UTRs)
   Position: hg38 chrY:23,219,457-23,291,356 Size: 71,900 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chrY:23,219,741-23,285,501 Size: 65,761 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrY:23,219,457-23,291,356)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Deleted in azoospermia protein 2;
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.
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.
TISSUE SPECIFICITY: Testis specific.
DOMAIN: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
POLYMORPHISM: The number as well as the precise structure of the DAZ proteins probably differs within the population.
DISEASE: Defects in DAZ2 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.
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.
SIMILARITY: Belongs to the RRM DAZ family.
SIMILARITY: Contains 15 DAZ-like domains.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: DAZ2
Diseases sorted by gene-association score: azoospermia (38), spermatogenic failure, y-linked, 2 (14), male infertility (12), partial deletion of y* (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.33 RPKM in Testis
Total median expression: 0.33 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.70284-0.319 Picture PostScript Text
3' UTR -390.701892-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

ModBase Predicted Comparative 3D Structure on Q13117
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding
GO:0008494 translation activator activity

Biological Process:
GO:0007275 multicellular organism development
GO:0007281 germ cell development
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0030154 cell differentiation
GO:0045948 positive regulation of translational initiation
GO:0070935 3'-UTR-mediated mRNA stabilization

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0032991 macromolecular complex

-  Descriptions from all associated GenBank mRNAs
  AK302690 - Homo sapiens cDNA FLJ60375 complete cds, highly similar to Deleted in azoospermia protein 2.
AF414184 - Homo sapiens deleted in azoospermia 2 (DAZ2) mRNA, complete cds.
JD131906 - Sequence 112930 from Patent EP1572962.
JD515776 - Sequence 496800 from Patent EP1572962.
BC047480 - Homo sapiens deleted in azoospermia 4, mRNA (cDNA clone MGC:50968 IMAGE:5297459), complete cds.
JD080022 - Sequence 61046 from Patent EP1572962.
U21663 - Homo sapiens DAZ protein (DAZ) mRNA, complete cds.
AK302398 - Homo sapiens cDNA FLJ61638 complete cds, highly similar to Deleted in azoospermia protein 2.
BC047617 - Homo sapiens deleted in azoospermia 4, mRNA (cDNA clone MGC:50967 IMAGE:4836748), complete cds.
BC036648 - Homo sapiens cDNA clone IMAGE:4829066, containing frame-shift errors.
JD227828 - Sequence 208852 from Patent EP1572962.
JD477359 - Sequence 458383 from Patent EP1572962.
JD414396 - Sequence 395420 from Patent EP1572962.
AF248480 - Homo sapiens deleted in azoospermia 2 (DAZ2) mRNA, complete cds.
AF248481 - Homo sapiens deleted in azoospermia 3 (DAZ3) mRNA, complete cds.
JD128066 - Sequence 109090 from Patent EP1572962.
BC113005 - Homo sapiens deleted in azoospermia 3, mRNA (cDNA clone MGC:126441 IMAGE:40035860), complete cds.
BC113006 - Homo sapiens deleted in azoospermia 2, mRNA (cDNA clone MGC:126442 IMAGE:40035862), complete cds.
JD162760 - Sequence 143784 from Patent EP1572962.
JD319116 - Sequence 300140 from Patent EP1572962.
JD434268 - Sequence 415292 from Patent EP1572962.
JD151472 - Sequence 132496 from Patent EP1572962.
CU690438 - Synthetic construct Homo sapiens gateway clone IMAGE:100020883 5' read DAZ4 mRNA.
KJ899299 - Synthetic construct Homo sapiens clone ccsbBroadEn_08693 DAZ2 gene, encodes complete protein.
KJ894398 - Synthetic construct Homo sapiens clone ccsbBroadEn_03792 DAZ4 gene, encodes complete protein.
AF248483 - Homo sapiens deleted in azoospermia 4 (DAZ4) mRNA, partial cds.
JD143099 - Sequence 124123 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
JD348062 - Sequence 329086 from Patent EP1572962.
AK310133 - Homo sapiens cDNA, FLJ17175.
AL833003 - Homo sapiens mRNA; cDNA DKFZp666C074 (from clone DKFZp666C074).
U66077 - Human DAZ mRNA, 3'UTR.
JD296607 - Sequence 277631 from Patent EP1572962.
JD258084 - Sequence 239108 from Patent EP1572962.
JD549870 - Sequence 530894 from Patent EP1572962.
JD357038 - Sequence 338062 from Patent EP1572962.
JD242302 - Sequence 223326 from Patent EP1572962.
JD264206 - Sequence 245230 from Patent EP1572962.
JD127403 - Sequence 108427 from Patent EP1572962.
JD324204 - Sequence 305228 from Patent EP1572962.
JD554593 - Sequence 535617 from Patent EP1572962.
JD323893 - Sequence 304917 from Patent EP1572962.
JD144242 - Sequence 125266 from Patent EP1572962.
JD089229 - Sequence 70253 from Patent EP1572962.
JD089230 - Sequence 70254 from Patent EP1572962.
JD057970 - Sequence 38994 from Patent EP1572962.
JD566060 - Sequence 547084 from Patent EP1572962.
JD048149 - Sequence 29173 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DAZ2_HUMAN, NM_001005785, Q13117, Q2KHN6, Q96P41, Q9NR91, uc065cvf.1
UCSC ID: uc065cvf.1
RefSeq Accession: NM_001005785
Protein: Q13117 (aka DAZ2_HUMAN)
CCDS: CCDS35485.1, CCDS48210.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.