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    TUSC2 tumor suppressor 2, mitochondrial calcium regulator [ Homo sapiens (human) ]

    Gene ID: 11334, updated on 9-Dec-2024

    Summary

    Official Symbol
    TUSC2provided by HGNC
    Official Full Name
    tumor suppressor 2, mitochondrial calcium regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:17034
    See related
    Ensembl:ENSG00000114383 MIM:607052; AllianceGenome:HGNC:17034
    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
    PAP; FUS1; PDAP2; C3orf11
    Summary
    Predicted to be involved in inflammatory response and regulation of mitochondrial membrane potential. Predicted to act upstream of or within several processes, including natural killer cell differentiation; neutrophil-mediated killing of gram-negative bacterium; and regulation of cytokine production. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 15.7), kidney (RPKM 12.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TUSC2 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50324909..50328223, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50354633..50357947, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50362340..50365654, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50340489-50341423 Neighboring gene hyaluronidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50357211-50357884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19900 Neighboring gene hyaluronidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50359913-50360586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50361369-50361870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19901 Neighboring gene Ras association domain family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50374977-50375548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19903 Neighboring gene RASSF1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50377372-50378195 and GRCh37_chr3:50378196-50379018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50380164-50380746 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50382474-50383024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50383025-50383575

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in natural killer cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of interleukin-17 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil-mediated killing of gram-negative bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-10 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitochondrial membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    tumor suppressor candidate 2
    Names
    PDGFA-associated protein 2
    fus-1 protein
    fusion 1 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007275.3NP_009206.1  tumor suppressor candidate 2

      See identical proteins and their annotated locations for NP_009206.1

      Status: REVIEWED

      Source sequence(s)
      AC002455
      Consensus CDS
      CCDS2819.1
      UniProtKB/Swiss-Prot
      B2R4Y9, O75896
      Related
      ENSP00000232496.4, ENST00000232496.5
      Conserved Domains (1) summary
      pfam15000
      Location:1109
      TUSC2; tumor suppressor candidate 2

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50324909..50328223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50354633..50357947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)