Human_Genes_Functions
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Prototype stage

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

TP53BP2

TP53BP2

protein_coding 1 223,779,893 - 223,846,012 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000143514
Gene type
protein_coding
Chromosome
1
Coordinates
223,779,893 - 223,846,012
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

53BP2 7159 ASPP2 CCDS1538 CCDS44319 ENST00000343537.12 NM_001031685 NM_001031685.3 NM_005426 PPP1R13A Q13625 tumor protein p53-binding protein, 2

Summary

GENCODE gene_type=protein_coding; HGNC symbol=TP53BP2; HGNC name=tumor protein p53 binding protein 2; alias_count=13; RefSeq=NM_001031685,NM_005426; UniProt=Q13625; MANE Select=ENST00000343537.12,NM_001031685.3

Source: GENCODE + HGNC complete set

7159 • protein-coding

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NCBI Gene

UniProt

Q13625 • reviewed

Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of NAE1 to conjugate NEDD8 to CUL1, and thereby decreases NAE1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42

Apoptosis-stimulating of p53 protein 2 · Cytoplasm, perinuclear region; Nucleus

Q13625 • reviewed

Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of NAE1 to conjugate NEDD8 to CUL1, and thereby decreases NAE1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42

Apoptosis-stimulating of p53 protein 2 · Cytoplasm, perinuclear region; Nucleus

GO annotations

Biological process
  • GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator (IEA)
  • GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator (IDA)
  • GO:0045786 negative regulation of cell cycle (IEA)
  • GO:0045786 negative regulation of cell cycle (TAS)
  • GO:1900119 positive regulation of execution phase of apoptosis (IMP)
  • GO:0042981 regulation of apoptotic process (IEA)
  • GO:0007165 signal transduction (TAS)
Cellular component
  • GO:0030054 cell junction (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (TAS)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (TAS)
  • GO:0005829 cytosol (IDA)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)

+ 8 more

Molecular function
  • GO:0051059 NF-kappaB binding (IPI)
  • GO:0042802 identical protein binding (IPI)
  • GO:0002039 p53 binding (IEA)
  • GO:0002039 p53 binding (IPI)
  • GO:0002039 p53 binding (IBA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 77 more

Representative

Representative transcript
ENST00000343537
Representative protein
ENSP00000341957.7
Representative type
CCDS
Candidate count
3

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

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000343537 TP53BP2-201 protein_coding not available ENSP00000341957.7 1:223,779,893 - 223,845,947 -
ENST00000391878 TP53BP2-202 protein_coding not available ENSP00000375750.2 1:223,779,893 - 223,845,930 -
ENST00000863547 TP53BP2-214 protein_coding not available ENSP00000533606.1 1:223,779,893 - 223,845,968 -
ENST00000863548 TP53BP2-215 protein_coding not available ENSP00000533607.1 1:223,779,893 - 223,845,968 -
ENST00001008978 TP53BP2-217 protein_coding not available ENSP00000678795.1 1:223,779,893 - 223,845,968 -
ENST00001080994 TP53BP2-221 protein_coding not available ENSP00000750800.1 1:223,779,893 - 223,845,968 -
ENST00001143619 TP53BP2-223 protein_coding not available ENSP00000807965.1 1:223,779,893 - 223,845,968 -
ENST00001080992 TP53BP2-220 nonsense_mediated_decay not available ENSP00000750798.1 1:223,779,902 - 223,846,012 -
ENST00001005146 TP53BP2-216 nonsense_mediated_decay not available ENSP00000674963.1 1:223,780,081 - 223,846,002 -
ENST00001008979 TP53BP2-218 nonsense_mediated_decay not available ENSP00000678796.1 1:223,780,081 - 223,845,980 -
ENST00001008980 TP53BP2-219 nonsense_mediated_decay not available ENSP00000678797.1 1:223,780,084 - 223,845,979 -
ENST00001080995 TP53BP2-222 nonsense_mediated_decay not available ENSP00000750801.1 1:223,780,088 - 223,845,914 -
ENST00000483398 TP53BP2-208 nonsense_mediated_decay not available ENSP00000417174.1 1:223,780,645 - 223,800,726 -
ENST00000498843 TP53BP2-213 protein_coding_CDS_not_defined not available not available 1:223,780,789 - 223,802,736 -
ENST00000494100 TP53BP2-211 protein_coding not available ENSP00000420225.1 1:223,795,838 - 223,814,328 -
ENST00000489310 TP53BP2-209 protein_coding_CDS_not_defined not available not available 1:223,799,917 - 223,802,731 -
ENST00000490896 TP53BP2-210 retained_intron not available not available 1:223,800,776 - 223,802,657 -
ENST00000481128 TP53BP2-207 protein_coding_CDS_not_defined not available not available 1:223,801,939 - 223,803,330 -
ENST00000464172 TP53BP2-203 retained_intron not available not available 1:223,802,301 - 223,803,223 -
ENST00000496282 TP53BP2-212 protein_coding_CDS_not_defined not available not available 1:223,804,235 - 223,821,136 -

FASTA

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

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

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