MMP24OS

Summary

MMP24OS (MMP24 opposite strand, HGNC:44421) is a protein-coding gene on chromosome 20q11.22, encoding Protein MMP24OS (A0A0U1RRL7).

At a glance

• GWAS associations: 11
• MANE Select transcript: NM_001355003

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44421
Approved symbol	MMP24OS
Name	MMP24 opposite strand
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000126005
Ensembl biotype	protein_coding
Entrez	101410538

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 9 protein_coding_CDS_not_defined, 6 protein_coding, 1 nonsense_mediated_decay

ENST00000424358, ENST00000433764, ENST00000435366, ENST00000438751, ENST00000453892, ENST00000454184, ENST00000455178, ENST00000456350, ENST00000456790, ENST00000566203, ENST00000594413, ENST00000635104, ENST00000864430, ENST00000864431, ENST00000864432, ENST00000864433

RefSeq mRNA: 2 — MANE Select: NM_001355003 NM_001355003, NM_001355004

CCDS: CCDS86948

Canonical transcript exons

ENST00000456790 — 2 exons

Exon	Start	End
ENSE00001595144	35276352	35277932
ENSE00002622133	35278009	35278122

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 96.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 132.2444 / max 1235.2277, expressed in 1816 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187034	132.2444	1816

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	96.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.83	gold quality
cerebellar hemisphere	UBERON:0002245	96.74	gold quality
metanephros cortex	UBERON:0010533	96.67	gold quality
cerebellar cortex	UBERON:0002129	96.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.45	gold quality
anterior cingulate cortex	UBERON:0009835	95.86	gold quality
cingulate cortex	UBERON:0003027	95.84	gold quality
amygdala	UBERON:0001876	95.79	gold quality
right frontal lobe	UBERON:0002810	95.77	gold quality
pituitary gland	UBERON:0000007	95.71	gold quality
right adrenal gland	UBERON:0001233	95.58	gold quality
apex of heart	UBERON:0002098	95.54	gold quality
cerebellum	UBERON:0002037	95.50	gold quality
left adrenal gland cortex	UBERON:0035825	95.49	gold quality
left adrenal gland	UBERON:0001234	95.42	gold quality
lower esophagus mucosa	UBERON:0035834	95.42	gold quality
right adrenal gland cortex	UBERON:0035827	95.38	gold quality
nucleus accumbens	UBERON:0001882	95.31	gold quality
ileal mucosa	UBERON:0000331	95.28	gold quality
putamen	UBERON:0001874	95.11	gold quality
adrenal cortex	UBERON:0001235	95.03	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.92	gold quality
ascending aorta	UBERON:0001496	94.74	gold quality
thoracic aorta	UBERON:0001515	94.74	gold quality
mucosa of transverse colon	UBERON:0004991	94.61	gold quality
adult mammalian kidney	UBERON:0000082	94.59	gold quality
hypothalamus	UBERON:0001898	94.58	gold quality
right uterine tube	UBERON:0001302	94.44	gold quality
mucosa of stomach	UBERON:0001199	94.42	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.02
E-MTAB-8530	no	573.90
E-ENAD-27	no	3.36

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Protein MMP24OS — A0A0U1RRL7 (reviewed: A0A0U1RRL7)

Alternative names: MMP24 opposite strand

All UniProt accessions (1): A0A0U1RRL7

RefSeq proteins (2): NP_001341932, NP_001341933 (=MANE)

Domains & families (InterPro)

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0U1RRL7-F1	69.77	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, BASAKI_YBX1_TARGETS_DN, TIEN_INTESTINE_PROBIOTICS_2HR_UP, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, chr20q11, DODD_NASOPHARYNGEAL_CARCINOMA_DN, TIEN_INTESTINE_PROBIOTICS_6HR_UP, CHICAS_RB1_TARGETS_CONFLUENT, JOHNSTONE_PARVB_TARGETS_3_UP, BAKKER_FOXO3_TARGETS_DN, E2F1_UP.V1_DN, GLI1_TARGET_GENES, RBM34_TARGET_GENES, SNRNP70_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

60 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MMP24OS	MMP27	Q9H306	366
MMP24OS	MMP26	Q9NRE1	349
MMP24OS	MMP17	Q9ULZ9	310
MMP24OS	MMP20	O60882	305
MMP24OS	MMP23B	O75900	276
MMP24OS	MMP19	Q99542	274
MMP24OS	LCE2C	Q5TA81	274
MMP24OS	LCE2A	Q5TA79	270
MMP24OS	LCE1E	Q5T753	264
MMP24OS	FBXL8	Q96CD0	259
MMP24OS	MMP25	Q9NPA2	258
MMP24OS	MMP28	Q9H239	248
MMP24OS	MMP24	Q9Y5R2	247
MMP24OS	LCE1D	Q5T752	246
MMP24OS	LCE1A	Q5T7P2	246

IntAct

2 interactions, top by confidence:

A	B	Type	Score
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A0U1RRL7, A0A286YF18, A0JWY5, A1L429, A6NDE8, A6NER3, A8WFF7, B1ARW8, B8H8L5, E9PXT9, O76087, P04487, P06924, P0C675, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P22157, P25483, P26550, P56958, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q1HVH9, Q32LJ5, Q3KSU8, Q4V321, Q4V326, Q66619, Q66659, Q6NT46, Q7YR45

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

2439 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

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000542184 (20:35277938 A>G), RS1000587713 (20:35277647 G>A), RS1001766559 (20:35277360 G>A), RS1002111141 (20:35277595 C>A), RS1003089548 (20:35278409 C>A), RS1003549902 (20:35278645 C>G), RS1003844290 (20:35275958 G>A), RS1005342289 (20:35278512 G>T), RS1006166806 (20:35278377 G>A), RS1006354941 (20:35280073 T>C), RS1006708324 (20:35277967 C>T), RS1007024468 (20:35278108 C>A), RS1008121475 (20:35278995 G>A), RS1008284943 (20:35276872 G>A), RS1008807237 (20:35276483 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST008163_596	Height	3.000000e-06
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
GCST90020028_1524	Hip circumference adjusted for BMI	3.000000e-18
GCST90020028_1525	Hip circumference adjusted for BMI	6.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Thiram	decreases expression	1
Propofol	decreases expression	1

Clinical trials (associated diseases)

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