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MMP24 matrix metallopeptidase 24 [ Homo sapiens (human) ]

Gene ID: 10893, updated on 7-Apr-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
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Genomic context

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Location:
20q11.22
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35226690..35276998)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36947464..36997860)
105.20220307 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. [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
  2. Identification of a novel human MT5-MMP transcript variant in multipotent NT2 cells. Ross HH, et al. FEBS Lett, 2007 Dec 22. PMID 18062926
  3. Expression of membrane-type 5 matrix metalloproteinase in human endometrium and endometriosis. Gaetje R, et al. Gynecol Endocrinol, 2007 Oct. PMID 17952761
  4. 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
  5. 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

See all (28) 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)

Genotypes

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_2023_10

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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