Version 5.4
Homo sapiens Gene: DAZ2
Summary
InnateDB Gene IDBG-652.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DAZ2
Gene Name deleted in azoospermia 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000205944
Encoded Proteins
IDBP-654
deleted in azoospermia 2
IDBP-656
deleted in azoospermia 2
IDBP-660
deleted in azoospermia 2
IDBP-664
deleted in azoospermia 2
IDBP-666
deleted in azoospermia 2
IDBP-845
deleted in azoospermia 2
IDBP-851
deleted in azoospermia 2
IDBP-228057
deleted in azoospermia 2
IDBP-363520
deleted in azoospermia 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] 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]
Gene Information
Type Protein coding
Genomic Location Chromosome Y:23219434-23291356
Strand Forward strand
Band q11.223
Transcripts
ENST00000382449 ENSP00000371887
ENST00000382440 ENSP00000371877
ENST00000382433 ENSP00000371870
ENST00000382431 ENSP00000371868
ENST00000382424 ENSP00000371861
ENST00000382306 ENSP00000371743
ENST00000382294 ENSP00000371731
ENST00000400493 ENSP00000383340
ENST00000449947 ENSP00000414113
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
Biological Process
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0030154 cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592257 Hs.600914 Hs.732961
RefSeq NM_001005785 NM_001005786 NM_020363 NM_020364 XM_005262602 XM_005262604 XM_006709928
HUGO
OMIM
CCDS CCDS35485 CCDS48210 CCDS65375
HPRD 11848
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca