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    DAZ4 deleted in azoospermia 4 [ Homo sapiens (human) ]

    Gene ID: 57135, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DAZ4provided by HGNC
    Official Full Name
    deleted in azoospermia 4provided by HGNC
    Primary source
    HGNC:HGNC:15966
    See related
    Ensembl:ENSG00000205916 MIM:400048; AllianceGenome:HGNC:15966
    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
    pDP1680; pDP1681
    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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]
    Expression
    Biased expression in stomach (RPKM 48.9) and testis (RPKM 10.4) See more
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    Genomic context

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    See DAZ4 in Genome Data Viewer
    Location:
    Yq11.23
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (24833820..24907040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (25571713..25641471, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (26979967..27053187)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377241 Neighboring gene deleted in azoospermia 3 Neighboring gene uncharacterized LOC105377242 Neighboring gene tripartite motif containing 60 pseudogene 6, Y-linked

    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 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. 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
    2. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Fernandes S, et al. Am J Hum Genet, 2004 Jan. PMID 14639527, Free PMC Article
    3. gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population. Ghorbel M, et al. Gene, 2016 Oct 30. PMID 27457284
    4. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Fernandes S, et al. Mol Hum Reprod, 2002 Mar. PMID 11870237
    5. A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men. Ferlin A, et al. J Endocrinol Invest, 2002 Jan. PMID 11883873

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. Oligospermia seems to be promoted by removing DAZ4 copy. 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.
    4. 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.
    5. 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.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: [Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].
    7. a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus these genes cannot be required for male fertility
      Title: A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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 4

    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.

    mRNA and Protein(s)

    1. NM_001005375.3 → NP_001005375.1  deleted in azoospermia protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001005375.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which includes two RRM domains and nine DAZ repeats.
      Source sequence(s)
      AA608617, AC010089, AF248482, AF248483, AL833003
      UniProtKB/Swiss-Prot
      Q86SG3, Q9NR88, Q9NR89
      Related
      ENSP00000371751.3, ENST00000382314.6
      Conserved Domains (2) summary
      TIGR01628
      Location:42 → 438
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12672
      Location:200 → 281
      RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins

    2. NM_001388484.1 → NP_001375413.1  deleted in azoospermia protein 4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006338, AC006982, AC010089
      Consensus CDS
      CCDS94720.1
      UniProtKB/TrEMBL
      A0A804HKV4
      Related
      ENSP00000508087.1, ENST00000682740.1
      Conserved Domains (3) summary
      TIGR01628
      Location:42 → 412
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam18872
      Location:479 → 499
      Daz; Daz repeat
      cd12672
      Location:200 → 281
      RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

    3. NM_020420.4 → NP_065153.1  deleted in azoospermia protein 4 isoform 2

      See identical proteins and their annotated locations for NP_065153.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks one RRM domain and one DAZ repeat compared to isoform 1.
      Source sequence(s)
      AA608617, AC010089, AL833003, BC047480
      Consensus CDS
      CCDS55557.1
      UniProtKB/TrEMBL
      E7ERQ6
      Related
      ENSP00000389300.2, ENST00000449750.7
      Conserved Domains (3) summary
      TIGR01628
      Location:40 → 273
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam18872
      Location:314 → 334
      Daz; Daz repeat
      cd12672
      Location:35 → 116
      RRM_DAZL; RNA recognition motif (RRM) found 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
      24833820..24907040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      25571713..25641471 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86SG3.2 GenPept UniProtKB/Swiss-Prot:Q86SG3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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