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    DAZAP2 DAZ associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 9802, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DAZAP2provided by HGNC
    Official Full Name
    DAZ associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:2684
    See related
    Ensembl:ENSG00000183283 MIM:607431; AllianceGenome:HGNC:2684
    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
    PRTB
    Summary
    This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 168.5), thyroid (RPKM 98.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAZAP2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51238826..51246717)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51201722..51209619)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51632610..51640501)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51593597-51594096 Neighboring gene POU class 6 homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:51614127-51614306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51631660-51632297 Neighboring gene Sharpr-MPRA regulatory region 9853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51633573-51634209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641233-51641734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641735-51642234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51642235-51642736 Neighboring gene small cell adhesion glycoprotein Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51663873-51664373 Neighboring gene bridging integrator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6376 Neighboring gene Sharpr-MPRA regulatory region 8177 Neighboring gene uncharacterized LOC105369767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4466 Neighboring gene Sharpr-MPRA regulatory region 12465 Neighboring gene chymotrypsin like elastase 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DAZAP2 acts as specifier of the p53 response to DNA damage.
      Title: DAZAP2 acts as specifier of the p53 response to DNA damage.
    2. methylation of DAZAP2 promoter was involved in downregulation of DAZAP2 in multiple myeloma cells.
      Title: The effects of promoter methylation on downregulation of DAZAP2 in multiple myeloma cell lines.
    3. In summary we established a new mechanism of IL17RB regulation-Smurf2 dependent degradation of its adaptor protein DAZAP2.
      Title: Smurf2 regulates IL17RB by proteasomal degradation of its novel binding partner DAZAP2.
    4. Lys residues might play important roles in regulating the intracellular dynamics of the PRTB protein.K153 in human PRTB is essential for its ubiquitin-dependent degradation
      Title: Evolutionary features and intracellular behavior of the PRTB protein.
    5. DAZAP2 is downregulated in multiple myeloma samples and it may be a signal molecule in multiple myeloma cells. DAZAP2 is involved in the pathogenesis of MM
      Title: Molecular features and expression of DAZAP2 in human multiple myeloma.
    Submit: New GeneRIF Correction

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of DAZ associated protein 2 (DAZAP2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Homology

    Clone Names

    • MGC766, KIAA0058, MGC14319

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mitogen-activated protein kinase kinase kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein destabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in stress granule assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DAZ-associated protein 2
    Names
    deleted in azoospermia associated protein 2
    proline-rich transcript in brain
    proline-rich transcript in brain protein
    proline-rich transcript, brain-expressed protein

    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_001136264.2 → NP_001129736.1  DAZ-associated protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in an internal coding exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a.
      Source sequence(s)
      AC139768, AK095963, BC002334, BM982980, DC341917
      Consensus CDS
      CCDS44886.1
      UniProtKB/Swiss-Prot
      Q15038
      Related
      ENSP00000412812.2, ENST00000449723.7
      Conserved Domains (1) summary
      pfam11029
      Location:35 → 146
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    2. NM_001136266.2 → NP_001129738.1  DAZ-associated protein 2 isoform c

      See identical proteins and their annotated locations for NP_001129738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in a coding exon, compared to variant 1, that results in a frameshift. It encodes isoform c which has a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC139768, AK303828, BM982980, DC303613
      Consensus CDS
      CCDS44885.1
      UniProtKB/Swiss-Prot
      Q15038
      Related
      ENSP00000448051.1, ENST00000549555.5
      Conserved Domains (1) summary
      pfam11029
      Location:35 → 100
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    3. NM_001136267.2 → NP_001129739.1  DAZ-associated protein 2 isoform d

      See identical proteins and their annotated locations for NP_001129739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame segment in an internal coding exon, compared to variant 1, resulting in a shorter protein (isoform d) compared to isoform a.
      Source sequence(s)
      AC139768, BM982980, BU662353, CD697667
      Consensus CDS
      CCDS44887.1
      UniProtKB/Swiss-Prot
      Q15038
      Related
      ENSP00000446554.2, ENST00000549732.6
      Conserved Domains (1) summary
      pfam11029
      Location:7 → 136
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    4. NM_001136268.2 → NP_001129740.1  DAZ-associated protein 2 isoform e

      See identical proteins and their annotated locations for NP_001129740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame internal coding exon, compared to variant 1, resulting in a shorter protein (isoform e) compared to isoform a.
      Source sequence(s)
      AC139768, BM982980, DA900264, DC341917
      Consensus CDS
      CCDS44888.1
      UniProtKB/Swiss-Prot
      Q15038
      Related
      ENSP00000398804.2, ENST00000439799.6
      Conserved Domains (1) summary
      pfam11029
      Location:51 → 86
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    5. NM_001136269.2 → NP_001129741.1  DAZ-associated protein 2 isoform f

      See identical proteins and their annotated locations for NP_001129741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform f) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK293330
      Consensus CDS
      CCDS44884.1
      UniProtKB/TrEMBL
      S4R3Q0
      Related
      ENSP00000408251.2, ENST00000425012.6
      Conserved Domains (1) summary
      pfam11029
      Location:35 → 122
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    6. NM_014764.4 → NP_055579.1  DAZ-associated protein 2 isoform a

      See identical proteins and their annotated locations for NP_055579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the predominant isoform (a).
      Source sequence(s)
      AC139768, BC002334, BM982980, DC341917
      Consensus CDS
      CCDS8809.1
      UniProtKB/Swiss-Prot
      A8K254, B4DDT5, B4E1G3, C9JA96, C9JP84, E9PB45, F8VU62, Q15038
      Related
      ENSP00000394699.2, ENST00000412716.8
      Conserved Domains (1) summary
      pfam11029
      Location:35 → 168
      DAZAP2; DAZ associated protein 2 (DAZAP2)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51238826..51246717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51201722..51209619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15038.1 GenPept UniProtKB/Swiss-Prot:Q15038

    Gene LinkOut

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

    Chemical Information
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