Jump to content

DAZ2

From Wikipedia, the free encyclopedia
(Redirected from DAZ2 (gene))
DAZ2
Identifiers
AliasesDAZ2, pDP1678, deleted in azoospermia 2
External IDsOMIM: 400026; MGI: 1342328; HomoloGene: 86954; GeneCards: DAZ2; OMA:DAZ2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 17: 50.59 – 50.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000205944Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010592Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (Sep 2000). "Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome". Genomics. 67 (3): 256–67. doi:10.1006/geno.2000.6260. PMID 10936047.
  6. ^ a b "Entrez Gene: DAZ2 deleted in azoospermia 2".

Further reading

[edit]