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    TIMP2 TIMP metallopeptidase inhibitor 2 [ Homo sapiens (human) ]

    Gene ID: 7077, updated on 9-Dec-2024

    Summary

    Official Symbol
    TIMP2provided by HGNC
    Official Full Name
    TIMP metallopeptidase inhibitor 2provided by HGNC
    Primary source
    HGNC:HGNC:11821
    See related
    Ensembl:ENSG00000035862 MIM:188825; AllianceGenome:HGNC:11821
    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
    DDC8; CSC-21K
    Summary
    This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 542.4), endometrium (RPKM 302.2) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TIMP2 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78852977..78925387, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79747776..79820220, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76849059..76921469, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47538 Neighboring gene ubiquitin specific peptidase 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76834350-76834864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76834865-76835379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12913 Neighboring gene uncharacterized LOC124904067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9075 Neighboring gene ribosomal protein L9 pseudogene 29 Neighboring gene MPRA-validated peak3020 silencer Neighboring gene uncharacterized LOC124904068 Neighboring gene Sharpr-MPRA regulatory region 3779 Neighboring gene MPRA-validated peak3021 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76869765-76870265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76874955-76875848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76875849-76876740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76877535-76878035 Neighboring gene Sharpr-MPRA regulatory region 5911/8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76898462-76899062 Neighboring gene CEP295 N-terminal like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76911943-76912638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76912639-76913334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76914785-76915760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12914 Neighboring gene Sharpr-MPRA regulatory region 14803 Neighboring gene Sharpr-MPRA regulatory region 6708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76972258-76972941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76976039-76977031 Neighboring gene galectin 3 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene calcium activated nucleotidase 1

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induced monocyte invasion is inhibited by anti-beta integrin Ab or tissue inhibitor of metalloproteinase (TIMP), indicating an interaction with beta integrins and TIMP PubMed
    tat HIV-1 Tat downregulates both basal and bFGF-induced secretion of TIMP-1 and TIMP-2, an effect involved in the Tat and bFGF induced increase in MMP-2 secretion PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular function inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cytokine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    metalloproteinase inhibitor 2
    Names
    testicular secretory protein Li 57
    tissue inhibitor of metalloproteinases 2

    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_003255.5NP_003246.1  metalloproteinase inhibitor 2 precursor

      See identical proteins and their annotated locations for NP_003246.1

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC100788, AL110197, BC052605
      Consensus CDS
      CCDS11758.1
      UniProtKB/Swiss-Prot
      P16035, Q16121, Q93006, Q9UDF7
      UniProtKB/TrEMBL
      A0A140VK57
      Related
      ENSP00000262768.6, ENST00000262768.11
      Conserved Domains (1) summary
      cd03585
      Location:27209
      NTR_TIMP; NTR domain, TIMP subfamily; TIMPs, or tissue inibitors of metalloproteases, are essential regulators of extracellular matrix turnover and remodeling. They form complexes with matrix metalloproteases (MMPs) and inactivate them irreversibly by ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78852977..78925387 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79747776..79820220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)