DAZ2

Deleted in azoospermia protein 2 is a protein that in humans is encoded by the DAZ2 gene.^[5][6]

AliasesDAZ2, pDP1678, deleted in azoospermia 2

External IDsOMIM: 400026; MGI: 1342328; HomoloGene: 86954; GeneCards: DAZ2; OMA:DAZ2 - orthologs

Chr.Y chromosome (human)^[1]

End23,291,356 bp^[1]

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DAZ2
Identifiers
Aliases	DAZ2, pDP1678, deleted in azoospermia 2
External IDs	OMIM: 400026; MGI: 1342328; HomoloGene: 86954; GeneCards: DAZ2; OMA:DAZ2 - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yq11.223 Start 23,219,434 bp[1] End 23,291,356 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 C|17 25.86 cM Start 50,586,423 bp[2] End 50,600,664 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad testicle right testis left testis body of stomach fundus right lobe of liver Achilles tendon skin of abdomen urinary bladder Top expressed in spermatocyte spermatid egg cell Gonadal ridge secondary oocyte zygote primary oocyte seminiferous tubule ovary morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA binding nucleic acid binding translation activator activity protein binding mRNA binding mRNA 3'-UTR binding Cellular component nucleus cytoplasm intracellular anatomical structure protein-containing complex Biological process multicellular organism development cell differentiation spermatogenesis single fertilization positive regulation of translational initiation 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57055 13164 Ensembl ENSG00000205944 ENSMUSG00000010592 UniProt Q13117 Q64368 RefSeq (mRNA) NM_020363 NM_001005785 NM_001005786 NM_001277863 NM_010021 RefSeq (protein) NP_001005785 NP_001005786 NP_065096 NP_001264792 NP_034151 Location (UCSC) Chr Y: 23.22 – 23.29 Mb Chr 17: 50.59 – 50.6 Mb PubMed search [3] [4]
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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.^[6]