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

Gene ID: 57055, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:15964
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]
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Genomic context

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See DAZ2 in Genome Data Viewer
Location:
Yq11.223
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (23219457..23291356)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (25661821..25719401)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Habermann B, et al. Hum Reprod, 1998 Feb. PMID 9557839
  2. DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men. Yang Y, et al. Asian J Androl, 2006 Mar. PMID 16491269
  3. Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men. Yang Y, et al. Fertil Steril, 2006 Apr. PMID 16580401
  4. A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians. Zhang F, et al. Ann Hum Genet, 2006 May. PMID 16674553
  5. Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men. Ghorbel M, et al. Gene, 2014 Sep 1. PMID 24878370

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
    Title: Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
  2. study reported a new type of AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the result of 2 successive events favored by the unstable structure of AZFc region; also demonstrated that this deletion constitutes a relative high-risk factor for male infertility in Tunisian population
    Title: gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.
  3. Studies indicate that partial RNA-binding proteins DAZ1/2 deletion was associated wih male infertility, but partial RNA-binding proteins DAZ3/4 deletion was not associated with male infertility.
    Title: Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
  4. There appears to be an asociation of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population.
    Title: Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population.
  5. Deletion of DAZ2 and DAZ4 gene copies is associated with male infertility.
    Title: Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
  6. All four DAZ genes are expressed in the human testis, and their products are highly polymorphic among men
    Title: Polymorphic expression of DAZ proteins in the human testis.
  7. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
    Title: A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians.
  8. AZFc subdeletions do not seem to cause severe impairment of spermatogenesis in Chilean men.
    Title: AZFc partial deletions in Chilean men with severe spermatogenic failure.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: [Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].
  10. Observational study of genotype prevalence. (HuGE Navigator)
    Title: DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure, Y-linked, 2
MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Clone Names

  • MGC126442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables translation activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in 3'-UTR-mediated mRNA stabilization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in single fertilization TAS
Traceable Author Statement
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
deleted in azoospermia protein 2

NCBI Reference Sequences (RefSeq)

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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_028267.1 RefSeqGene

    Range
    5077..76900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005785.2 → NP_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
    UniProtKB/Swiss-Prot
    Q13117
    UniProtKB/TrEMBL
    B4DZ07
    Conserved Domains (2) summary
    COG0724
    Location:39 → 118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

  2. NM_001005786.2 → NP_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
    UniProtKB/TrEMBL
    A0A0A0MSR9, E7ETR3, E7EU39
    Conserved Domains (2) summary
    COG0724
    Location:39 → 118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

  3. NM_001388493.1 → NP_001375422.1  deleted in azoospermia protein 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006983, AC007039, AC053490
    Related
    ENSP00000371870.4, ENST00000382433.4
    Conserved Domains (2) summary
    TIGR01628
    Location:40 → 247
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

  4. NM_001388494.1 → NP_001375423.1  deleted in azoospermia protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC006983, AC007039, AC053490
    Conserved Domains (3) summary
    TIGR01628
    Location:40 → 247
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    pfam18872
    Location:362 → 382
    Daz; Daz repeat
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

  5. NM_001388495.1 → NP_001375424.1  deleted in azoospermia protein 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006983, AC007039, AC053490
    Conserved Domains (2) summary
    TIGR01628
    Location:3 → 198
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cl17169
    Location:1 → 67
    RRM_SF; RNA recognition motif (RRM) superfamily

  6. NM_001389303.1 → NP_001376232.1  deleted in azoospermia protein 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006983, AC007039, AC053490
    Consensus CDS
    CCDS94719.1
    UniProtKB/TrEMBL
    E9PBY2
    Related
    ENSP00000371877.1, ENST00000382440.6
    Conserved Domains (2) summary
    TIGR01628
    Location:40 → 247
    PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

  7. NM_020363.3 → NP_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
    UniProtKB/Swiss-Prot
    Q13117, Q2KHN6, Q96P41, Q9NR91
    Conserved Domains (2) summary
    COG0724
    Location:39 → 118
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12672
    Location:35 → 116
    RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060948.1 Alternate T2T-CHM13v2.0

    Range
    25661821..25719401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13117.3 GenPept UniProtKB/Swiss-Prot:Q13117

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