DAZ2

Last updated
DAZ2
Identifiers
Aliases DAZ2 , pDP1678, deleted in azoospermia 2
External IDs OMIM: 400026 MGI: 1342328 HomoloGene: 86954 GeneCards: DAZ2
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 Mb Chr 17: 50.59 – 50.6 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Related Research Articles

Azoospermia factor (AZF) is one of several proteins or their genes, which are coded from the AZF region on the human male Y chromosome. Deletions in this region are associated with inability to produce sperm. Subregions within the AZF region are AZFa, AZFb and AZFc. AZF microdeletions are one of the major causes of male infertility for azoospermia and severe oligozoospermia males. AZF is the term used by the HUGO Gene Nomenclature Committee.

<span class="mw-page-title-main">DAZL</span> Protein-coding gene in the species Homo sapiens

Deleted in azoospermia-like is a protein that in humans is encoded by the DAZL gene.

<span class="mw-page-title-main">DAZ1</span> Protein-coding gene in the species Homo sapiens

Deleted in azoospermia 1, also known as DAZ1, is a protein which in humans is encoded by the DAZ1 gene.

<span class="mw-page-title-main">USP9Y</span> Protein-coding gene in the species Homo sapiens

Ubiquitin specific peptidase 9, Y-linked , also known as USP9Y, is an enzyme which in humans is encoded by the USP9Y gene. It is required for sperm production. This enzyme is a member of the peptidase C19 family and is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.

<span class="mw-page-title-main">DAZ3</span> Protein-coding gene in the species Homo sapiens

Deleted in azoospermia protein 3 is a protein that in humans is encoded by the DAZ3 gene.

<span class="mw-page-title-main">DAZ associated protein 1</span> Protein-coding gene in the species Homo sapiens

DAZ-associated protein 1 is a protein that in humans is encoded by the DAZAP1 gene.

<span class="mw-page-title-main">PUM2</span> Protein-coding gene in the species Homo sapiens

Pumilio homolog 2 is an RNA-binding protein that in humans is encoded by the PUM2 gene.

<span class="mw-page-title-main">QKI</span> Protein

Quaking homolog, KH domain RNA binding (mouse), also known as QKI, is a protein which in humans is encoded by the QKI gene.

<span class="mw-page-title-main">RNA binding motif protein, Y-linked, family 1, member A1</span> Protein-coding gene in the species Homo sapiens

RNA-binding motif protein, Y chromosome, family 1 member A1/C is a protein that in humans is encoded by the RBMY1A1 gene.

<span class="mw-page-title-main">DDX3Y</span> Protein-coding gene in the species Homo sapiens

ATP-dependent RNA helicase DDX3Y is an enzyme that in humans is encoded by the DDX3Y gene.

<span class="mw-page-title-main">CDY1</span> Protein-coding gene in the species Homo sapiens

Testis-specific chromodomain protein Y 1 is a protein that in humans is encoded by the CDY1 gene.

<span class="mw-page-title-main">BOLL</span> Protein-coding gene in the species Homo sapiens

Protein boule-like is a protein that in humans is encoded by the BOLL gene.

<span class="mw-page-title-main">Sperm-associated antigen 8</span> Protein-coding gene in the species Homo sapiens

Sperm-associated antigen 8 is a protein that in humans is encoded by the SPAG8 gene.

<span class="mw-page-title-main">DAZAP2</span> Protein-coding gene in humans

DAZ-associated protein 2 is a protein that in humans is encoded by the DAZAP2 gene.

<span class="mw-page-title-main">DZIP1</span> Protein-coding gene in the species Homo sapiens

Zinc finger protein DZIP1 is a protein that in humans is encoded by the DZIP1 gene.

<span class="mw-page-title-main">YBX2</span> Protein-coding gene in the species Homo sapiens

Y-box-binding protein 2 is a protein that in humans is encoded by the YBX2 gene.

<span class="mw-page-title-main">VCX</span> Protein-coding gene in the species Homo sapiens

Variable charge X-linked protein 1 is a protein that in humans is encoded by the VCX gene.

<span class="mw-page-title-main">BPY2</span> Protein-coding gene in the species Homo sapiens

Testis-specific basic protein Y 2 also known as basic charge, Y-linked 2 is a protein that in humans is encoded by the BPY2 gene which resides on the Y chromosome.

<span class="mw-page-title-main">Mild androgen insensitivity syndrome</span> Medical condition

Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.

The DAZprotein family is a group of three highly conserved RNA-binding proteins that are important in gametogenesis and meiosis. Therefore, mutations in the genes that encode for the DAZ proteins can have detrimental consequences for fertility.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000205944 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010592 - Ensembl, 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. 1 2 "Entrez Gene: DAZ2 deleted in azoospermia 2".

Further reading