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DAZ2 deleted in azoospermia 2 [ Homo sapiens (human) ]

Gene ID: 57055, updated on 21-Apr-2019

Summary

Official Symbol
DAZ2provided by HGNC
Official Full Name
deleted in azoospermia 2provided by HGNC
Primary source
HGNC:HGNC:15964
See related
Ensembl:ENSG00000205944 MIM:400026
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
pDP1678
Summary
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]

Genomic context

See DAZ2 in Genome Data Viewer
Location:
Yq11.223
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) Y NC_000024.10 (23219457..23291356)
105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (25365604..25437503)

Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377238 Neighboring gene deleted in azoospermia 1 Neighboring gene uncharacterized LOC105377239 Neighboring gene protein phosphatase 1 regulatory subunit 12B pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
germ cell development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
single fertilization TAS
Traceable Author Statement
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
deleted in azoospermia protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_004755.2 

    Range
    1408571..1480470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_028267.1 RefSeqGene

    Range
    5001..76900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005785.2NP_001005785.1  deleted in azoospermia protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001005785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. Variant 2 encodes isoform 2 which lacks one DAZ repeat, compared to isoform 1.
    Source sequence(s)
    AF414184, AK302690
    Consensus CDS
    CCDS48210.1
    UniProtKB/Swiss-Prot
    Q13117
    UniProtKB/TrEMBL
    B4DZ07
    Related
    ENSP00000371743.2, ENST00000382306.6
    Conserved Domains (2) summary
    COG0724
    Location:39118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
  2. NM_001005786.2NP_001005786.2  deleted in azoospermia protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several in-frame exons in the coding region, compared to variant 1. Variant 3 encodes isoform 3 which lacks eight DAZ repeats, compared to isoform 1.
    Source sequence(s)
    AC053490, AF414184, AK302690, U21663
    Consensus CDS
    CCDS65375.1
    UniProtKB/Swiss-Prot
    Q13117
    UniProtKB/TrEMBL
    B4DZ07, E7EU39
    Related
    ENSP00000371731.2, ENST00000382294.6
    Conserved Domains (2) summary
    COG0724
    Location:39118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
  3. NM_020363.3NP_065096.2  deleted in azoospermia protein 2 isoform 1

    See identical proteins and their annotated locations for NP_065096.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variant 1 encodes isoform 1 which includes 15 DAZ repeats.
    Source sequence(s)
    AC006983, AF248480, AK302690
    Consensus CDS
    CCDS35485.1
    UniProtKB/Swiss-Prot
    Q13117
    UniProtKB/TrEMBL
    B4DZ07
    Related
    ENSP00000371861.4, ENST00000382424.8
    Conserved Domains (2) summary
    COG0724
    Location:39118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p12 Primary Assembly

    Range
    23219457..23291356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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