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    MMP24 matrix metallopeptidase 24 [ Homo sapiens (human) ]

    Gene ID: 10893, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MMP24provided by HGNC
    Official Full Name
    matrix metallopeptidase 24provided by HGNC
    Primary source
    HGNC:HGNC:7172
    See related
    Ensembl:ENSG00000125966 MIM:604871; AllianceGenome:HGNC:7172
    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
    MMP25; MMP-24; MT5MMP; MTMMP5; MT-MMP5; MT5-MMP; MT-MMP 5
    Summary
    This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]
    Expression
    Broad expression in kidney (RPKM 9.9), brain (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMP24 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35226690..35276998)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36947464..36997860)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33814493..33864801)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene protein C receptor Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33803863-33804362 Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849077-33849838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849839-33850602 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33850603-33851364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33863253-33863860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33863861-33864468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33872587-33873137 Neighboring gene MMP24 opposite strand Neighboring gene FAM83C antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83 member C

    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. Identification and characterization of human MT5-MMP, a new membrane-bound activator of progelatinase a overexpressed in brain tumors. Llano E, et al. Cancer Res, 1999 Jun 1. PMID 10363975
    2. Expression of membrane-type 5 matrix metalloproteinase in human endometrium and endometriosis. Gaetje R, et al. Gynecol Endocrinol, 2007 Oct. PMID 17952761
    3. Identification of a novel human MT5-MMP transcript variant in multipotent NT2 cells. Ross HH, et al. FEBS Lett, 2007 Dec 22. PMID 18062926
    4. [Inhibitory effects of RNA interference on MMP-24 expression and invasiveness of ovarian cancer SKOV(3) cells]. Luo YP, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2009 Apr. PMID 19403421
    5. Upregulated expression of human membrane type-5 matrix metalloproteinase in kidneys from diabetic patients. Romanic AM, et al. Am J Physiol Renal Physiol, 2001 Aug. PMID 11457723

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation.
      Title: PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation.
    2. Changes in the expression of membrane type-matrix metalloproteinases genes (MMP14, MMP15, MMP16, MMP24) during treatment and their potential impact on the survival of patients with non-small cell lung cancer (NSCLC).
      Title: Changes in the expression of membrane type-matrix metalloproteinases genes (MMP14, MMP15, MMP16, MMP24) during treatment and their potential impact on the survival of patients with non-small cell lung cancer (NSCLC).
    3. Deficiency in MT5-MMP Supports Branching of Human iPSCs-Derived Neurons and Reduces Expression of GLAST/S100 in iPSCs-Derived Astrocytes.
      Title: Deficiency in MT5-MMP Supports Branching of Human iPSCs-Derived Neurons and Reduces Expression of GLAST/S100 in iPSCs-Derived Astrocytes.
    4. MT5-MMP controls APP and beta-CTF/C99 metabolism through proteolytic-dependent and -independent mechanisms relevant for Alzheimer's disease.
      Title: MT5-MMP controls APP and β-CTF/C99 metabolism through proteolytic-dependent and -independent mechanisms relevant for Alzheimer's disease.
    5. MMP24 overexpression is associated with lung cancer metastasis.
      Title: Inactivation of Capicua drives cancer metastasis.
    6. Polymorphisms in MAP3K3, MMP24 and IGF1R are associated with greater height and act additively on height in children of an admixed population.
      Title: Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation.
    7. In absolute mRNA levels, significant differences were found in expression of MMP2, MMP24, and MMP25 in gastric carcinoma compared with superficial gastritis.
      Title: Expression of the matrix metalloproteases 2, 14, 24, and 25 and tissue inhibitor 3 as potential molecular markers in advanced human gastric cancer.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
    10. MMP-24 gene silencing by RNAi can suppress the invasiveness of ovarian cancer SKOV(3) cells in vitro.
      Title: [Inhibitory effects of RNA interference on MMP-24 expression and invasiveness of ovarian cancer SKOV(3) cells].
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell-cell adhesion mediated by cadherin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-cell adhesion via plasma-membrane adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in collagen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of temperature stimulus involved in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuronal stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    matrix metalloproteinase-24
    Names
    matrix metallopeptidase 24 (membrane-inserted)
    matrix metalloproteinase 24 (membrane-inserted)
    membrane-type 5 matrix metalloproteinase
    membrane-type matrix metalloproteinase 5

    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_006690.4 → NP_006681.1  matrix metalloproteinase-24 preproprotein

      See identical proteins and their annotated locations for NP_006681.1

      Status: REVIEWED

      Source sequence(s)
      AB021227, AL121753, BC047614, R60687
      Consensus CDS
      CCDS46593.1
      UniProtKB/Swiss-Prot
      B7ZBG8, Q9H440, Q9Y5R2
      UniProtKB/TrEMBL
      Q86VV6
      Related
      ENSP00000246186.6, ENST00000246186.8
      Conserved Domains (4) summary
      cd00094
      Location:377 → 569
      HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
      pfam00413
      Location:162 → 327
      Peptidase_M10; Matrixin
      pfam01471
      Location:82 → 134
      PG_binding_1; Putative peptidoglycan binding domain
      pfam11857
      Location:575 → 645
      DUF3377; Domain of unknown function (DUF3377)

    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
      35226690..35276998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528500.3 → XP_011526802.1  matrix metalloproteinase-24 isoform X2

      UniProtKB/TrEMBL
      Q86VV6
      Conserved Domains (5) summary
      cd04278
      Location:162 → 327
      ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...
      pfam00413
      Location:162 → 327
      Peptidase_M10; Matrixin
      pfam01471
      Location:82 → 134
      PG_binding_1; Putative peptidoglycan binding domain
      pfam11857
      Location:486 → 556
      DUF3377; Domain of unknown function (DUF3377)
      cl02471
      Location:377 → 479
      HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...

    2. XM_017027597.2 → XP_016883086.1  matrix metalloproteinase-24 isoform X1

      UniProtKB/TrEMBL
      Q86VV6

    3. XM_017027598.2 → XP_016883087.1  matrix metalloproteinase-24 isoform X3

      UniProtKB/TrEMBL
      Q2PW48

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36947464..36997860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322866.1 → XP_054178841.1  matrix metalloproteinase-24 isoform X2

    2. XM_054322865.1 → XP_054178840.1  matrix metalloproteinase-24 isoform X1

    3. XM_054322867.1 → XP_054178842.1  matrix metalloproteinase-24 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5R2.1 GenPept UniProtKB/Swiss-Prot:Q9Y5R2

    Gene LinkOut

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

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