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

Gene ID: 9802, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51238826..51246717)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51201722..51209619)
105.20220307 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
  • 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. The effects of promoter methylation on downregulation of DAZAP2 in multiple myeloma cell lines. Luo SQ, et al. PLoS One, 2012. PMID 22792345, Free PMC Article
  2. Evolutionary features and intracellular behavior of the PRTB protein. Matsunami M, et al. Biochem Genet, 2011 Aug. PMID 21274613
  3. Molecular features and expression of DAZAP2 in human multiple myeloma. Shi YW, et al. Chin Med J (Engl), 2007 Oct 5. PMID 17935665
  4. Smurf2 regulates IL17RB by proteasomal degradation of its novel binding partner DAZAP2. Popova A, et al. Immunobiology, 2012 Mar. PMID 22070932
  5. Proline-rich transcript in brain protein induces stress granule formation. Kim JE, et al. Mol Cell Biol, 2008 Jan. PMID 17984221, Free PMC Article

See all (47) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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.

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