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    TP53INP2 tumor protein p53 inducible nuclear protein 2 [ Homo sapiens (human) ]

    Gene ID: 58476, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TP53INP2provided by HGNC
    Official Full Name
    tumor protein p53 inducible nuclear protein 2provided by HGNC
    Primary source
    HGNC:HGNC:16104
    See related
    Ensembl:ENSG00000078804 MIM:617549; AllianceGenome:HGNC:16104
    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
    DOR; PIGU; PINH; PIG-U; C20orf110; dJ1181N3.1
    Summary
    The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in esophagus (RPKM 35.1), brain (RPKM 34.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TP53INP2 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34704344..34713436)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36425010..36434099)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33292148..33301240)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33153261-33153762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33170999-33171500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33171501-33172000 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class U Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33264364-33265250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33265251-33266136 Neighboring gene uncharacterized LOC105372599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12843 Neighboring gene Sharpr-MPRA regulatory region 13945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12846 Neighboring gene nuclear receptor coactivator 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33384717-33385693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33385694-33386669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12848 Neighboring gene high mobility group box 3 pseudogene 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. TP53INP2 modulates the malignant progression of colorectal cancer by reducing the inactive form of β-catenin. Shi K, et al. Biochem Biophys Res Commun, 2024 Jan 1. PMID 37995453
    2. Assignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridization. Nowak J, et al. Cytogenet Genome Res, 2005. PMID 15628030
    3. DOR undergoes nucleo-cytoplasmic shuttling, which involves passage through the nucleolus. Mauvezin C, et al. FEBS Lett, 2012 Sep 21. PMID 22750142
    4. The combination of TP53INP1, TP53INP2 and AXIN2: potential biomarkers in papillary thyroid carcinoma. He M, et al. Endocrine, 2015 Mar. PMID 25104271
    5. TP53INP2/DOR protein chaperones deacetylated nuclear LC3 to the cytoplasm to promote macroautophagy. Liu X, et al. Autophagy, 2015. PMID 26213321, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TP53INP2-dependent activation of muscle autophagy ameliorates sarcopenia and promotes healthy aging.
      Title: TP53INP2-dependent activation of muscle autophagy ameliorates sarcopenia and promotes healthy aging.
    2. TP53INP2 modulates the malignant progression of colorectal cancer by reducing the inactive form of beta-catenin.
      Title: TP53INP2 modulates the malignant progression of colorectal cancer by reducing the inactive form of β-catenin.
    3. Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia Cells.
      Title: Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia Cells.
    4. Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells.
      Title: Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells.
    5. TP53INP2 Contributes to TGF-beta2-Induced Autophagy during the Epithelial-Mesenchymal Transition in Posterior Capsular Opacification Development.
      Title: TP53INP2 Contributes to TGF-β2-Induced Autophagy during the Epithelial-Mesenchymal Transition in Posterior Capsular Opacification Development.
    6. Overexpression of TP53INP2 Promotes Apoptosis in Clear Cell Renal Cell Cancer via Caspase-8/TRAF6 Signaling Pathway.
      Title: Overexpression of TP53INP2 Promotes Apoptosis in Clear Cell Renal Cell Cancer via Caspase-8/TRAF6 Signaling Pathway.
    7. Dysregulation in the expression of (lncRNA-TSIX, TP53INP2 mRNA, miRNA-1283) in spinal cord injury.
      Title: Dysregulation in the expression of (lncRNA-TSIX, TP53INP2 mRNA, miRNA-1283) in spinal cord injury.
    8. The bifunctional role of TP53INP2 in transcription and autophagy.
      Title: The bifunctional role of TP53INP2 in transcription and autophagy.
    9. TP53INP2 interacted directly with ATG7 to form a LC3B-TP53INP2-ATG7 complex in the cytoplasm.
      Title: TP53INP2 contributes to autophagosome formation by promoting LC3-ATG7 interaction.
    10. Results showed that TP53INP2 interacts with ubiquitin and ubiquitinated proteins through the ubiquitin-interacting motif (UIM). Moreover, overexpression of TP53INP2 lacking the UIM in cells leads to massive accumulation of ubiquitinated proteins and sensitizes the cells to apoptosis under stressed conditions.
      Title: TP53INP2 mediates autophagic degradation of ubiquitinated proteins through its ubiquitin-interacting motif.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tumor protein p53-inducible nuclear protein 2
    Names
    diabetes and obesity-regulated
    p53-inducible protein U

    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_001329429.2 → NP_001316358.1  tumor protein p53-inducible nuclear protein 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AY422170, CA310159, DB479841
      Consensus CDS
      CCDS13240.1
      UniProtKB/Swiss-Prot
      A8K8S8, E1P5P6, Q5JX64, Q8IXH6, Q8IYL5, Q9NU00
      Conserved Domains (1) summary
      pfam14839
      Location:67 → 211
      DOR; DOR family

    2. NM_001329430.2 → NP_001316359.1  tumor protein p53-inducible nuclear protein 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AY422170, CA310159, HY150218
      Consensus CDS
      CCDS13240.1
      UniProtKB/Swiss-Prot
      A8K8S8, E1P5P6, Q5JX64, Q8IXH6, Q8IYL5, Q9NU00
      Related
      ENSP00000363942.2, ENST00000374809.6
      Conserved Domains (1) summary
      pfam14839
      Location:67 → 211
      DOR; DOR family

    3. NM_001329431.2 → NP_001316360.1  tumor protein p53-inducible nuclear protein 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AL109824, AY422170, CA310159, HY157843
      Consensus CDS
      CCDS13240.1
      UniProtKB/Swiss-Prot
      A8K8S8, E1P5P6, Q5JX64, Q8IXH6, Q8IYL5, Q9NU00
      Conserved Domains (1) summary
      pfam14839
      Location:67 → 211
      DOR; DOR family

    4. NM_021202.3 → NP_067025.1  tumor protein p53-inducible nuclear protein 2

      See identical proteins and their annotated locations for NP_067025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript (1). All four variants encode the same protein.
      Source sequence(s)
      AY422170, CA310159
      Consensus CDS
      CCDS13240.1
      UniProtKB/Swiss-Prot
      A8K8S8, E1P5P6, Q5JX64, Q8IXH6, Q8IYL5, Q9NU00
      Related
      ENSP00000363943.3, ENST00000374810.8
      Conserved Domains (1) summary
      pfam14839
      Location:67 → 211
      DOR; DOR family

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34704344..34713436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36425010..36434099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXH6.2 GenPept UniProtKB/Swiss-Prot:Q8IXH6

    Gene LinkOut

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

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