Human_Genes_Functions
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Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

DAZAP2

DAZAP2

protein_coding 12 51,238,724 - 51,272,164 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000183283
Gene type
protein_coding
Chromosome
12
Coordinates
51,238,724 - 51,272,164
Strand
+
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

9802 CCDS44884 CCDS44885 CCDS44886 CCDS44887 CCDS44888 CCDS8809 ENST00000412716.8 KIAA0058 NM_014764 NM_014764.4 Q15038

Summary

GENCODE gene_type=protein_coding; HGNC symbol=DAZAP2; HGNC name=DAZ associated protein 2; alias_count=12; RefSeq=NM_014764; UniProt=Q15038; MANE Select=ENST00000412716.8,NM_014764.4

Source: GENCODE + HGNC complete set

9802 • protein-coding

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]

NCBI Gene

UniProt

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

Q15038 • reviewed

In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)

DAZ-associated protein 2 · Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nuclear body; Cytoplasm, Stress granule

GO annotations

Biological process
  • GO:0045893 positive regulation of DNA-templated transcription (IEA)
  • GO:0031648 protein destabilization (IDA)
  • GO:0034063 stress granule assembly (IMP)
Cellular component
  • GO:0005737 cytoplasm (IEA)
  • GO:0005737 cytoplasm (EXP)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (EXP)
  • GO:0005737 cytoplasm (IDA)
  • GO:0010494 cytoplasmic stress granule (IEA)
  • GO:0010494 cytoplasmic stress granule (IDA)
  • GO:0010494 cytoplasmic stress granule (IDA)
  • GO:0016604 nuclear body (IEA)

+ 11 more

Molecular function
  • GO:0140297 DNA-binding transcription factor binding (IPI)
  • GO:0140297 DNA-binding transcription factor binding (IPI)
  • GO:0140297 DNA-binding transcription factor binding (IPI)
  • GO:0140297 DNA-binding transcription factor binding (IPI)
  • GO:0050699 WW domain binding (IPI)
  • GO:0042802 identical protein binding (IPI)
  • GO:0042802 identical protein binding (IPI)
  • GO:0042802 identical protein binding (IPI)
  • GO:0031435 mitogen-activated protein kinase kinase kinase binding (IEA)
  • GO:0002039 p53 binding (IPI)

+ 166 more

Representative

Representative transcript
ENST00000412716
Representative protein
ENSP00000394699.2
Representative type
CCDS
Candidate count
10

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000425012 DAZAP2-202 protein_coding not available ENSP00000408251.2 12:51,238,724 - 51,246,717 +
ENST00000439799 DAZAP2-204 protein_coding not available ENSP00000398804.2 12:51,238,724 - 51,242,816 +
ENST00000449723 DAZAP2-205 protein_coding not available ENSP00000412812.2 12:51,238,724 - 51,243,931 +
ENST00000549555 DAZAP2-208 protein_coding not available ENSP00000448051.1 12:51,238,724 - 51,242,816 +
ENST00000549732 DAZAP2-209 protein_coding not available ENSP00000446554.2 12:51,238,724 - 51,242,594 +
ENST00000604900 DAZAP2-215 protein_coding not available ENSP00000474597.1 12:51,238,724 - 51,272,164 +
ENST00000905427 DAZAP2-216 protein_coding not available ENSP00000575486.1 12:51,238,724 - 51,243,784 +
ENST00001102892 DAZAP2-217 protein_coding not available ENSP00000772697.1 12:51,238,724 - 51,246,579 +
ENST00001118980 DAZAP2-218 protein_coding not available ENSP00000788785.1 12:51,238,724 - 51,249,263 +
ENST00001126207 DAZAP2-219 protein_coding not available ENSP00000796012.1 12:51,238,724 - 51,249,253 +
ENST00001135764 DAZAP2-221 protein_coding not available ENSP00000812670.1 12:51,238,724 - 51,243,933 +
ENST00000552173 DAZAP2-213 protein_coding_CDS_not_defined not available not available 12:51,238,818 - 51,241,071 +
ENST00000412716 DAZAP2-201 protein_coding not available ENSP00000394699.2 12:51,238,826 - 51,243,933 +
ENST00001126208 DAZAP2-220 nonsense_mediated_decay not available ENSP00000796013.1 12:51,238,826 - 51,249,249 +
ENST00000551919 DAZAP2-212 protein_coding_CDS_not_defined not available not available 12:51,238,827 - 51,242,474 +
ENST00000549041 DAZAP2-206 retained_intron not available not available 12:51,238,837 - 51,240,856 +
ENST00000436900 DAZAP2-203 nonsense_mediated_decay not available ENSP00000404968.2 12:51,238,903 - 51,243,785 +
ENST00000551534 DAZAP2-211 protein_coding_CDS_not_defined not available not available 12:51,238,905 - 51,242,431 +
ENST00000552459 DAZAP2-214 retained_intron not available not available 12:51,238,908 - 51,243,784 +
ENST00000549497 DAZAP2-207 protein_coding_CDS_not_defined not available not available 12:51,238,914 - 51,242,451 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.