MMP24

Summary

MMP24 (matrix metallopeptidase 24, HGNC:7172) is a protein-coding gene on chromosome 20q11.22, encoding Matrix metalloproteinase-24 (Q9Y5R2). Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence.

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).

Source: NCBI Gene 10893 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 103 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_006690

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7172
Approved symbol	MMP24
Name	matrix metallopeptidase 24
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	MT5-MMP
Ensembl gene	ENSG00000125966
Ensembl biotype	protein_coding
OMIM	604871
Entrez	10893

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000246186, ENST00000927315, ENST00000927316

RefSeq mRNA: 1 — MANE Select: NM_006690 NM_006690

CCDS: CCDS46593

Canonical transcript exons

ENST00000246186 — 9 exons

Exon	Start	End
ENSE00000860183	35246840	35246988
ENSE00000860184	35251905	35252021
ENSE00000860185	35254450	35254754
ENSE00000860187	35267205	35267419
ENSE00000860188	35269760	35269898
ENSE00000860189	35271569	35271835
ENSE00000860190	35274272	35276998
ENSE00001049004	35226690	35226984
ENSE00001624162	35263791	35263952

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 94.28.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2542 / max 13.9922, expressed in 145 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184290	0.2542	145

Top tissues by expression

264 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	94.28	gold quality
cerebellar hemisphere	UBERON:0002245	94.27	gold quality
cerebellar cortex	UBERON:0002129	94.17	gold quality
cortical plate	UBERON:0005343	93.05	gold quality
cerebellum	UBERON:0002037	92.74	gold quality
vena cava	UBERON:0004087	88.73	silver quality
tendon of biceps brachii	UBERON:0008188	88.72	gold quality
buccal mucosa cell	CL:0002336	87.43	gold quality
cerebellar vermis	UBERON:0004720	83.53	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.11	gold quality
parotid gland	UBERON:0001831	81.89	gold quality
pericardium	UBERON:0002407	81.54	gold quality
medial globus pallidus	UBERON:0002477	80.99	gold quality
globus pallidus	UBERON:0001875	80.87	gold quality
pylorus	UBERON:0001166	80.56	gold quality
nipple	UBERON:0002030	80.51	gold quality
pons	UBERON:0000988	80.44	gold quality
prefrontal cortex	UBERON:0000451	79.86	gold quality
lateral nuclear group of thalamus	UBERON:0002736	79.38	gold quality
lateral globus pallidus	UBERON:0002476	79.31	gold quality
substantia nigra pars compacta	UBERON:0001965	79.21	gold quality
superior surface of tongue	UBERON:0007371	79.18	gold quality
right frontal lobe	UBERON:0002810	79.08	gold quality
substantia nigra pars reticulata	UBERON:0001966	78.90	silver quality
renal medulla	UBERON:0000362	78.25	silver quality
endometrium epithelium	UBERON:0004811	77.68	gold quality
paraflocculus	UBERON:0005351	77.58	silver quality
heart right ventricle	UBERON:0002080	77.54	gold quality
ganglionic eminence	UBERON:0004023	77.52	gold quality
frontal cortex	UBERON:0001870	77.51	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

212 targeting MMP24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3120-5P	100.00	65.56	965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778

Literature-anchored findings (GeneRIF, showing 12)

• down-regulation of most MT-MMPs is typical for prostate carcinoma; seems to occur mainly in epithelial cells (PMID:12661033)
• MT5-MMP retrieval to the plasma membrane is regulated by Mint-3 by binding to its carboxyl end motif EWV (PMID:14990567)
• MT5-MMP is expressed in normal human endometrium and there is enhanced exprestion in endometrium from patients with entometriosis with strongest signal in epithelial cells. (PMID:17952761)
• These results suggest more than one human MT5-MMP transcript may exist in the central nervous system. (PMID:18062926)
• MMP-24 gene silencing by RNAi can suppress the invasiveness of ovarian cancer SKOV(3) cells in vitro. (PMID:19403421)
• In absolute mRNA levels, significant differences were found in expression of MMP2, MMP24, and MMP25 in gastric carcinoma compared with superficial gastritis. (PMID:24669030)
• Polymorphisms in MAP3K3, MMP24 and IGF1R are associated with greater height and act additively on height in children of an admixed population. (PMID:26304632)
• MMP24 overexpression is associated with lung cancer metastasis. (PMID:27869830)
• MT5-MMP controls APP and beta-CTF/C99 metabolism through proteolytic-dependent and -independent mechanisms relevant for Alzheimer’s disease. (PMID:34117802)
• Deficiency in MT5-MMP Supports Branching of Human iPSCs-Derived Neurons and Reduces Expression of GLAST/S100 in iPSCs-Derived Astrocytes. (PMID:34359875)
• 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). (PMID:35062057)
• PCSK6 exacerbates Alzheimer’s disease pathogenesis by promoting MT5-MMP maturation. (PMID:38216110)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	mmp24	ENSDARG00000018896
mus_musculus	Mmp24	ENSMUSG00000027612
rattus_norvegicus	Mmp24	ENSRNOG00000047028
caenorhabditis_elegans		WBGENE00010524
caenorhabditis_elegans		WBGENE00012185
caenorhabditis_elegans		WBGENE00012364
caenorhabditis_elegans		WBGENE00016283
caenorhabditis_elegans		WBGENE00194737

Paralogs (23): MMP25 (ENSG00000008516), MMP2 (ENSG00000087245), MMP11 (ENSG00000099953), MMP9 (ENSG00000100985), MMP15 (ENSG00000102996), HPX (ENSG00000110169), MMP8 (ENSG00000118113), MMP19 (ENSG00000123342), MMP7 (ENSG00000137673), MMP20 (ENSG00000137674), MMP27 (ENSG00000137675), MMP13 (ENSG00000137745), MMP3 (ENSG00000149968), MMP21 (ENSG00000154485), MMP16 (ENSG00000156103), MMP14 (ENSG00000157227), MMP10 (ENSG00000166670), MMP26 (ENSG00000167346), MMP23B (ENSG00000189409), MMP1 (ENSG00000196611), MMP17 (ENSG00000198598), MMP12 (ENSG00000262406), MMP28 (ENSG00000271447)

Protein

Protein identifiers

Matrix metalloproteinase-24 — Q9Y5R2 (reviewed: Q9Y5R2)

Alternative names: Membrane-type matrix metalloproteinase 5, Membrane-type-5 matrix metalloproteinase

All UniProt accessions (1): Q9Y5R2

UniProt curated annotations — full annotation on UniProt →

Function. Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate their quiescence. May play a role in axonal growth. Able to activate progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin.

Subunit / interactions. Interacts (via PDZ-binding motif) with APBA3 (via PDZ domain). Interacts with GRIP1 and GRIP2.

Subcellular location. Cell membrane. Golgi apparatus. trans-Golgi network membrane Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Predominantly expressed in brain, kidney, pancreas and lung. Overexpressed in a series of brain tumors, including astrocytomas and glioblastomas.

Post-translational modifications. Cleaved by a furin endopeptidase in the trans-Golgi network.

Cofactor. Binds 1 zinc ion per subunit.

Domain organisation. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The PDZ-binding motif (also named EWV motif) is required for interaction with PDZ domains of APBA3 and recycling through the trans-Golgi network.

Similarity. Belongs to the peptidase M10A family.

RefSeq proteins (1): NP_006681* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000585	Hemopexin-like_dom	Domain
IPR001818	Pept_M10_metallopeptidase	Domain
IPR002477	Peptidoglycan-bd-like	Domain
IPR006026	Peptidase_Metallo	Domain
IPR018486	Hemopexin_CS	Conserved_site
IPR018487	Hemopexin-like_repeat	Repeat
IPR021190	Pept_M10A	Family
IPR021805	Pept_M10A_metallopeptidase_C	Domain
IPR024079	MetalloPept_cat_dom_sf	Homologous_superfamily
IPR033739	M10A_MMP	Domain
IPR036365	PGBD-like_sf	Homologous_superfamily
IPR036375	Hemopexin-like_dom_sf	Homologous_superfamily

Pfam: PF00045, PF00413, PF01471, PF11857

UniProt features (27 total): repeat 4, compositionally biased region 4, binding site 4, region of interest 2, short sequence motif 2, chain 2, topological domain 2, signal peptide 1, propeptide 1, active site 1, site 1, disulfide bond 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5R2-F1	74.18	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 283; 581–582 (cleavage; by furin)

Ligand- & substrate-binding residues (4): 139 (in inhibited form); 282; 286; 292

Disulfide bonds (1): 380–569

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1592389	Activation of Matrix Metalloproteinases
R-HSA-1474228	Degradation of the extracellular matrix
R-HSA-1474244	Extracellular matrix organization

MSigDB gene sets: 178 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, GOMF_METALLOPEPTIDASE_ACTIVITY, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_NEUROGENESIS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_CELL_CELL_ADHESION, GOBP_SENSORY_PERCEPTION_OF_PAIN, GOBP_DETECTION_OF_TEMPERATURE_STIMULUS, GOCC_TRANS_GOLGI_NETWORK, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_NEURONAL_STEM_CELL_POPULATION_MAINTENANCE, AACTTT_UNKNOWN, GOBP_DETECTION_OF_ABIOTIC_STIMULUS

GO Biological Process (9): proteolysis (GO:0006508), glial cell differentiation (GO:0010001), extracellular matrix organization (GO:0030198), collagen catabolic process (GO:0030574), cell-cell adhesion mediated by cadherin (GO:0044331), detection of temperature stimulus involved in sensory perception of pain (GO:0050965), neuronal stem cell population maintenance (GO:0097150), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), cell adhesion (GO:0007155)

GO Molecular Function (8): metalloendopeptidase activity (GO:0004222), enzyme activator activity (GO:0008047), zinc ion binding (GO:0008270), cadherin binding (GO:0045296), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (8): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), trans-Golgi network membrane (GO:0032588), extracellular exosome (GO:0070062), extracellular region (GO:0005576), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Degradation of the extracellular matrix	1
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	2
cellular anatomical structure	2
protein metabolic process	1
cell differentiation	1
gliogenesis	1
extracellular structure organization	1
external encapsulating structure organization	1
catabolic process	1
collagen metabolic process	1
cell-cell adhesion	1
sensory perception of pain	1
detection of temperature stimulus involved in sensory perception	1
stem cell population maintenance	1
cellular process	1
endopeptidase activity	1
metallopeptidase activity	1
enzyme regulator activity	1
molecular function activator activity	1
transition metal ion binding	1
cell adhesion molecule binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
cation binding	1
membrane	1
cell periphery	1
external encapsulating structure	1
trans-Golgi network	1
organelle membrane	1
extracellular vesicle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MMP24	TIMP1	P01033	716
MMP24	GRIP1	Q9Y3R0	677
MMP24	TIMP2	P16035	607
MMP24	TIMP4	Q99727	566
MMP24	TIMP3	P35625	552
MMP24	MMP8	P22894	473
MMP24	APBA3	O96018	472
MMP24	HPX	P02790	461
MMP24	COL12A1	Q99715	447
MMP24	ADAM10	O14672	444
MMP24	FURIN	P09958	444
MMP24	ADAMTS7	Q9UKP4	425
MMP24	ANKRD22	Q5VYY1	422
MMP24	ADAMTS1	Q9UHI8	394
MMP24	SERPINE2	P07093	383

IntAct

112 interactions, top by confidence:

A	B	Type	Score
TJP2	MMP24	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
APBA1	MMP24	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	TJP3	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	ERBIN	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	HTRA2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	NOS1	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	DVL3	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
SNX27	MMP24	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
MMP24	LRRC7	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (17): MMP24 (Two-hybrid), UHRF1BP1 (Affinity Capture-MS), UBE2O (Affinity Capture-MS), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP24 (Negative Genetic), MMP27 (Negative Genetic), MMP3 (Negative Genetic), MMP8 (Negative Genetic), MMP24 (Negative Genetic)

ESM2 similar proteins: A2RUV9, F8W3R9, O18738, O43278, O54858, O88393, O97827, P00734, P00735, P0C5J5, P12259, P18292, P26342, P35054, P51511, Q08629, Q08E66, Q09101, Q14118, Q24567, Q24568, Q28685, Q29243, Q5R537, Q5RD69, Q62165, Q62288, Q640N1, Q66K79, Q701R2, Q7TQN3, Q80TS3, Q8BKV0, Q8IUX7, Q8N436, Q8R4V4, Q8TEU8, Q91ZV2, Q91ZV3, Q92563

Diamond homologs: A4KX75, D0EM77, G5EBU3, O04529, O18733, O18767, O18927, O23507, O55123, O55761, O60882, O62806, O77656, P03956, P03957, P07152, P08253, P08254, P09237, P09238, P13943, P14780, P21692, P22757, P23097, P28862, P28863, P29136, P33434, P33435, P33436, P34960, P39900, P41245, P41246, P45452, P50280, P50281, P50282, P50757

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MMP24	up-regulates	ECM_disassembly
MMP24	down-regulates	ECM

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Dopamine Neurotransmitter Release Cycle	5	47.7×	3e-06
Assembly and cell surface presentation of NMDA receptors	9	43.9×	4e-11
Neurexins and neuroligins	10	37.9×	2e-11
Protein-protein interactions at synapses	7	35.8×	6e-08
RHOA GTPase cycle	5	7.2×	6e-03
Neuronal System	7	6.0×	2e-03
Signaling by Rho GTPases	7	4.6×	7e-03
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	7	4.5×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	67.9×	3e-12
protein localization to synapse	5	49.7×	4e-06
receptor clustering	6	48.6×	4e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	6	38.6×	1e-06
cell-cell adhesion	9	11.9×	5e-06
protein-containing complex assembly	8	11.8×	2e-05
chemical synaptic transmission	6	6.0×	8e-03
protein transport	8	4.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

103 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2125 predictions. Top by Δscore:

Variant	Effect	Δscore
20:35246987:GA:G	donor_gain	1.0000
20:35246989:G:GG	donor_gain	1.0000
20:35263922:G:GT	donor_gain	1.0000
20:35263949:TATGG:T	donor_loss	1.0000
20:35263950:ATGGT:A	donor_loss	1.0000
20:35263953:GT:G	donor_loss	1.0000
20:35263954:T:A	donor_loss	1.0000
20:35263964:G:GT	donor_gain	1.0000
20:35267415:TTAAG:T	donor_loss	1.0000
20:35267416:TAAG:T	donor_loss	1.0000
20:35267417:AAG:A	donor_loss	1.0000
20:35267418:AGGTA:A	donor_loss	1.0000
20:35267419:GGTA:G	donor_loss	1.0000
20:35267420:GT:G	donor_loss	1.0000
20:35267421:T:A	donor_loss	1.0000
20:35269747:C:A	acceptor_gain	1.0000
20:35269757:CA:C	acceptor_loss	1.0000
20:35269758:A:AG	acceptor_gain	1.0000
20:35269758:AG:A	acceptor_gain	1.0000
20:35269758:AGGAT:A	acceptor_loss	1.0000
20:35269759:G:A	acceptor_gain	1.0000
20:35269759:G:GT	acceptor_gain	1.0000
20:35269759:GGA:G	acceptor_gain	1.0000
20:35269759:GGAT:G	acceptor_gain	1.0000
20:35269759:GGATC:G	acceptor_gain	1.0000
20:35269896:AAGGT:A	donor_loss	1.0000
20:35269899:G:GC	donor_loss	1.0000
20:35271829:G:GT	donor_gain	1.0000
20:35271830:A:T	donor_gain	1.0000
20:35271831:AGGAT:A	donor_gain	1.0000

AlphaMissense

4196 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:35251924:T:A	C139S	1.000
20:35251924:T:C	C139R	1.000
20:35251925:G:A	C139Y	1.000
20:35251925:G:C	C139S	1.000
20:35251925:G:T	C139F	1.000
20:35251926:T:G	C139W	1.000
20:35251996:T:A	W163R	1.000
20:35251996:T:C	W163R	1.000
20:35251998:G:C	W163C	1.000
20:35251998:G:T	W163C	1.000
20:35254520:T:A	W195R	1.000
20:35254520:T:C	W195R	1.000
20:35254522:G:C	W195C	1.000
20:35254522:G:T	W195C	1.000
20:35254607:T:C	F224L	1.000
20:35254609:T:A	F224L	1.000
20:35254609:T:G	F224L	1.000
20:35254622:C:A	H229N	1.000
20:35254622:C:G	H229D	1.000
20:35254624:T:A	H229Q	1.000
20:35254624:T:G	H229Q	1.000
20:35254628:G:C	D231H	1.000
20:35254629:A:C	D231A	1.000
20:35254629:A:T	D231V	1.000
20:35254640:T:A	F235I	1.000
20:35254640:T:C	F235L	1.000
20:35254641:T:C	F235S	1.000
20:35254641:T:G	F235C	1.000
20:35254642:T:A	F235L	1.000
20:35254642:T:G	F235L	1.000

dbSNP variants (sampled 300 via entrez): RS1000008343 (20:35265366 C>G,T), RS1000119228 (20:35275035 G>A), RS1000143835 (20:35241627 T>A,C,G), RS1000379502 (20:35244732 G>A), RS1000389208 (20:35251929 T>A,C), RS1000389856 (20:35227267 G>A), RS1000463652 (20:35226124 C>A,G,T), RS1000483531 (20:35272046 C>T), RS1000521739 (20:35260932 G>A), RS1000726568 (20:35230385 T>C), RS1000792204 (20:35272262 G>C), RS1000838797 (20:35257527 CAA>C), RS1000963645 (20:35256321 C>G), RS1001014902 (20:35264076 G>C), RS1001055380 (20:35256015 T>C,G)

Disease associations

OMIM: gene MIM:604871 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000175_30	Height	8.000000e-07
GCST000246_24	Attention deficit hyperactivity disorder	4.000000e-06
GCST005956_31	Waist-to-hip ratio adjusted for BMI	8.000000e-08
GCST005958_16	Waist-to-hip ratio adjusted for BMI (age >50)	6.000000e-06
GCST005962_40	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-08
GCST007294_22	Body fat distribution (trunk fat ratio)	4.000000e-48
GCST007294_41	Body fat distribution (trunk fat ratio)	6.000000e-38
GCST007295_10	Body fat distribution (leg fat ratio)	3.000000e-09
GCST007295_170	Body fat distribution (leg fat ratio)	3.000000e-43
GCST007295_4	Body fat distribution (leg fat ratio)	1.000000e-40
GCST008070_109	HDL cholesterol levels	6.000000e-06
GCST008075_86	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4.000000e-07
GCST008084_180	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	4.000000e-06
GCST008084_87	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-09
GCST010142_10	Fish- and plant-related diet	8.000000e-12
GCST010866_165	Coronary artery disease	4.000000e-09
GCST012227_1095	Hip circumference adjusted for BMI	2.000000e-42
GCST012227_1096	Hip circumference adjusted for BMI	2.000000e-12
GCST012227_1097	Hip circumference adjusted for BMI	2.000000e-29
GCST012228_446	Waist-hip index	2.000000e-17
GCST012228_447	Waist-hip index	8.000000e-12
GCST012230_187	Waist-to-hip ratio adjusted for BMI	3.000000e-20
GCST012230_188	Waist-to-hip ratio adjusted for BMI	2.000000e-13
GCST012231_11	A body shape index	3.000000e-13
GCST90000025_644	Appendicular lean mass	6.000000e-32
GCST90020028_1524	Hip circumference adjusted for BMI	3.000000e-18
GCST90020028_1525	Hip circumference adjusted for BMI	6.000000e-10

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004341	body fat distribution
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0008111	diet measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5050 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 29,447 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL279785	MARIMASTAT	3	29,447

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M10: Matrix metallopeptidase

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.00	IC50	1e+04	nM	MARIMASTAT

PubChem BioAssay actives

1 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2R,3S)-N-[(2S)-3,3-dimethyl-1-(methylamino)-1-oxobutan-2-yl]-N’,3-dihydroxy-2-(2-methylpropyl)butanediamide	1274675: Inhibition of MMP24 (unknown origin) catalytic domain using MCA-Arg-Pro-Leu-Gly-Leu-Dpa-Ala-Arg-Glu-Arg-NH2 as substrate preincubated for 60 mins followed by substrate addition by fluorescence assay	ic50	10.0000	uM

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Cisplatin	affects cotreatment, decreases expression	2
Lead	affects expression, affects methylation, affects splicing	2
Selenium	increases expression, decreases expression	2
cobaltous chloride	decreases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, decreases expression	1
NSC 689534	increases expression	1
Sunitinib	decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Urethane	decreases expression	1
Vanadates	increases expression	1
Vitamin E	increases expression	1
Cadmium Chloride	increases expression	1

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1069316	Binding	Inhibition of MMP24	Discovery of (pyridin-4-yl)-2H-tetrazole as a novel scaffold to identify highly selective matrix metalloproteinase-13 inhibitors for the treatment of osteoarthritis. — Bioorg Med Chem Lett

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1XB	Abcam HeLa MMP24 KO	Cancer cell line	Female
CVCL_SY66	HAP1 MMP24 (-) 1	Cancer cell line	Male
CVCL_SY67	HAP1 MMP24 (-) 2	Cancer cell line	Male
CVCL_SY68	HAP1 MMP24 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.