MMP23B

Chr 1

matrix metallopeptidase 23B

Also known as: MIFR, MIFR-1, MMP22

NCBI Gene: 8510ENSG00000189409UniProt: O75900

The protein is a matrix metalloproteinase that degrades extracellular matrix components and may regulate potassium channel surface expression by retaining them in the endoplasmic reticulum. Based on the provided information, there are no established diseases associated with MMP23B mutations. The gene shows low constraint to loss-of-function variation (pLI = 0.12, LOEUF = 1.83), suggesting it may tolerate inactivating variants.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
140
P/LP submissions
0%
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— MMP23B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.12) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
133 unique Pathogenic / Likely Pathogenic· 48 VUS of 185 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.83LOEUF
pLI 0.117
Z-score 0.38
OE 0.66 (0.21–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.54Z-score
OE missense 0.77 (0.59–1.03)
35 obs / 45.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.21–1.83)
0≤0.351.4
Missense OE0.77 (0.59–1.03)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 1 / 1.5Missense obs/exp: 35 / 45.2Syn Z: -0.38
DN
0.6841th %ile
GOF
0.7127th %ile
LOF
0.3647th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

185 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic125
Likely Pathogenic8
VUS48
Likely Benign4
125
Pathogenic
8
Likely Pathogenic
48
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
125
0
125
Likely Pathogenic
0
0
8
0
8
VUS
0
28
20
0
48
Likely Benign
0
2
1
1
4
Benign
0
0
0
0
0
Total0301541185

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MMP23B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Cohesin Complex Interacting with Promoters of MMP Genes for in Pterygium Occurrence.
Han S et al.·Curr Eye Res
2025
Comprehensive Analysis of the Expression and Prognosis for MMPs in Human Colorectal Cancer
Yu J et al.·Front Oncol
2021
beta-Lapachone Exerts Anticancer Effects by Downregulating p53, Lys-Acetylated Proteins, TrkA, p38 MAPK, SOD1, Caspase-2, CD44 and NPM in Oxaliplatin-Resistant HCT116 Colorectal Cancer Cells
Jung EJ et al.·Int J Mol Sci
2023
Increased expression of extracellular matrix metalloproteinase inducer (EMMPRIN) and MMP10, MMP23 in inflammatory bowel disease: Cross-sectional study.
Fonseca-Camarillo G et al.·Scand J Immunol
2021
Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations
Liu N et al.·BMC Med Genomics
2025Review
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients