InnateDB Protein
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IDBP-845.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DAZ2
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Protein Name
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deleted in azoospermia 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000371743
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InnateDB Gene
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IDBG-652 (DAZ2)
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Protein Structure
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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.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:11058556}. Nucleus {ECO:0000269PubMed:11058556}. 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.
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Disease Associations |
Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. {ECO:0000269PubMed:11095434, ECO:0000269PubMed:11870237, ECO:0000269PubMed:12801575}. Note=The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.
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Tissue Specificity |
Testis specific. {ECO:0000269PubMed:10936047}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000504
RNA recognition motif domain
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PFAM |
PF00076
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PRINTS |
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PIRSF |
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SMART |
SM00360
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TIGRFAMs |
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Modification |
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SwissProt |
Q13117
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PhosphoSite |
PhosphoSite-Q13117
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TrEMBL |
Q6S4N0
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UniProt Splice Variant |
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Entrez Gene |
57135
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UniGene |
Hs.732961
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RefSeq |
NP_001005785
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HUGO |
HGNC:15964
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OMIM |
400027
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CCDS |
CCDS48210
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HPRD |
11848
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IMGT |
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EMBL |
AC006338
AC006982
AC010089
AF248480
AF414184
AY466627
AY466628
AY466629
AY466630
AY547293
BC113006
U21663
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GenPept |
AAB02393
AAF91329
AAI13007
AAL24502
AAR31726
AAR31727
AAR31728
AAR31729
AAS55959
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