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

    Gene ID: 57055, updated on 10-Dec-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

    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. 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
    4. Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population. Li Q, et al. World J Urol, 2013 Dec. PMID 23512232
    5. 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

    See all (40) 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
    		Compare labs

    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

    Gene LinkOut

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