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

Gene ID: 9802, updated on 8-Jul-2018
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; Vega:OTTHUMG00000169649
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
See DAZAP2 in Genome Data Viewer
Location:
12q13.13
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (51238724..51246717)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51632508..51640501)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transcription factor CP2 Neighboring gene RNA, U6 small nuclear 199, pseudogene Neighboring gene POU class 6 homeobox 1 Neighboring gene small cell adhesion glycoprotein Neighboring gene uncharacterized LOC102723983 Neighboring gene bridging integrator 2 Neighboring gene uncharacterized LOC105369767

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC766, KIAA0058, MGC14319

Gene Ontology Provided by GOA

Function Evidence Code Pubs
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
mitogen-activated protein kinase kinase kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
receptor tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
DAZ-associated protein 2
Names
deleted in azoospermia associated protein 2
proline-rich transcript in brain
proline-rich transcript, brain-expressed protein

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_001136264.1NP_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:35146
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  2. NM_001136266.1NP_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, DC341917
    Consensus CDS
    CCDS44885.1
    UniProtKB/Swiss-Prot
    Q15038
    Related
    ENSP00000448051.1, OTTHUMP00000241785, ENST00000549555.5, OTTHUMT00000405261
    Conserved Domains (1) summary
    pfam11029
    Location:35100
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  3. NM_001136267.1NP_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, DC341917
    Consensus CDS
    CCDS44887.1
    UniProtKB/Swiss-Prot
    Q15038
    Related
    ENSP00000446554.2, OTTHUMP00000241788, ENST00000549732.6, OTTHUMT00000405266
    Conserved Domains (1) summary
    pfam11029
    Location:7136
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  4. NM_001136268.1NP_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, OTTHUMP00000241786, ENST00000439799.6, OTTHUMT00000405262
    Conserved Domains (1) summary
    pfam11029
    Location:5186
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  5. NM_001136269.1NP_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, DC341917
    Consensus CDS
    CCDS44884.1
    UniProtKB/Swiss-Prot
    Q15038
    Related
    ENSP00000408251.2, OTTHUMP00000241787, ENST00000425012.6, OTTHUMT00000405263
    Conserved Domains (1) summary
    pfam11029
    Location:35122
    DAZAP2; DAZ associated protein 2 (DAZAP2)
  6. NM_014764.3NP_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
    Q15038
    UniProtKB/TrEMBL
    A0A024R110
    Related
    ENSP00000394699.2, OTTHUMP00000241783, ENST00000412716.7, OTTHUMT00000405259
    Conserved Domains (1) summary
    pfam11029
    Location:35168
    DAZAP2; DAZ associated protein 2 (DAZAP2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    51238724..51246717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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