DAZ2

Protein identityUniProt · HPA

UniProt accession

Q13117

Gene

DAZ2

Ensembl

ENSG00000205944

Chromosome

Y

Canonical length

558 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q13117|DAZ2
     1  MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF
    61  GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC
   121  ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT
   181  GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF
   241  PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT
   301  GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY QLPVYNYQAF
   361  PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT
   421  GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF
   481  PAYPSSPFQV TTGYQLPVYN YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL
   541  WTEAYKWWYL VCLIQRRD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DAZ2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DAZ2.

Disease | AllUniProt

Conditions DAZ2 is implicated in, by any mechanism.

• Spermatogenic failure Y-linked 2 (SPGFY2) MIM:415000

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.89

gnomAD pLI

0.29

gnomAD missense Z

-0.17

OntologyGO

Biological processes

• 3'-UTR-mediated mRNA stabilization
• cell differentiation
• positive regulation of translational initiation
• single fertilization
• spermatogenesis

Molecular functions

• mRNA 3'-UTR binding
• RNA binding
• translation activator activity

Cellular components

• cytoplasm
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• DAZ, RNA recognition motif, vertebrates
• DAZ domain
• RNA recognition motif
• Daz repeat

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Differentiation
• Nucleus
• Repeat
• RNA-binding
• Spermatogenesis

InteractionsUniProt · HPA

Protein binding partners of DAZ2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DAZAP1
• DAZAP2
• DZIP1
• DZIP3
• PUM2