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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MCF2L
MCF.2 cell line derived transforming sequence like
Chromosome 13 · 13q34
NCBI Gene: 23263Ensembl: ENSG00000126217.22HGNC: HGNC:14576UniProt: H0Y4M6
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615phosphatidylinositol bindingguanyl-nucleotide exchange factor activitycytoplasmcoronary artery diseaseurinary bladder cancerneurodegenerative diseasecoronary atherosclerosis
✦AI Summary

MCF2L (MCF.2 cell line derived transforming sequence like) encodes a guanine nucleotide exchange factor that, contrary to typical family members, does not catalyze guanine nucleotide exchange on CDC42 1. The gene has emerged as a significant genetic susceptibility locus for osteoarthritis, with variants in MCF2L showing robust association with disease risk across large population studies 2. The rs11842874 polymorphism within intron 4 of MCF2L operates as an expression quantitative trait locus (eQTL) in synovial membrane tissue, where the risk-conferring A allele correlates with increased MCF2L expression 3. MCF2L protein is detectable in joint tissues including cartilage, synovial membrane, and infrapatellar fat pad, with tissue-specific differences in expression patterns and transcript isoforms 3. The gene's connection to nerve growth factor (NGF) regulation suggests a role in pain pathways relevant to osteoarthritis pathogenesis 2. Additionally, the antisense long non-coding RNA MCF2L-AS1 has been implicated in various cancers, including hepatocellular carcinoma, ovarian cancer, breast cancer, and lung adenocarcinoma, where it promotes oncogenic behaviors and drug resistance through multiple molecular mechanisms 4567.

Sources cited
1
MCF2L does not catalyze guanine nucleotide exchange on CDC42
PMID: 15157669
2
MCF2L variants show robust association with osteoarthritis risk and the gene regulates nerve growth factor
PMID: 21871595
3
MCF2L operates as an eQTL in synovial membrane tissue and is expressed in joint tissues with tissue-specific patterns
PMID: 26584642
4
MCF2L-AS1 promotes hepatocellular carcinoma cell behaviors through miR-33a-5p/FGF2 axis
PMID: 37432067
5
MCF2L-AS1 promotes cisplatin resistance in ovarian cancer via IGF2BP1/IGF2/MEK/ERK axis
PMID: 36245227
6
MCF2L-AS1 is highly expressed in breast cancer and promotes malignancy through YAP binding
PMID: 36700469
7
MCF2L-AS1 contributes to lung adenocarcinoma growth and cisplatin resistance through miR-874-3p/STAT3 feedback loop
PMID: 37954302
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.47Moderate
urinary bladder cancerOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
coronary atherosclerosisOpen Targets
0.39Weak
Myocardial IschemiaOpen Targets
0.39Weak
appendicitisOpen Targets
0.38Weak
Delayed pubertyOpen Targets
0.32Weak
cardiovascular diseaseOpen Targets
0.32Weak
Abdominal Aortic AneurysmOpen Targets
0.32Weak
heart diseaseOpen Targets
0.32Weak
intermediate coronary syndromeOpen Targets
0.31Weak
hypertensionOpen Targets
0.31Weak
disorder of appendixOpen Targets
0.30Weak
uveitisOpen Targets
0.30Weak
cellulitisOpen Targets
0.26Weak
abscessOpen Targets
0.26Weak
Back painOpen Targets
0.25Weak
response to surgeryOpen Targets
0.25Weak
deep vein thrombosisOpen Targets
0.23Weak
sialolithiasisOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42Protein interaction87%RAC1Protein interaction83%RHOAProtein interaction77%PREX2Shared pathway67%DNMBPShared pathway50%ARHGEF3Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
60%
Lung
45%
Liver
30%
Ovary
14%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
MCF2LCDC42RAC1RHOAPREX2DNMBPARHGEF3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O15068
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.54–0.77]
RankingsWhere MCF2L stands among ~20K protein-coding genes
  • #8,097of 20,598
    Most Researched56
  • #6,240of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedMCF2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of osteoarthritis.
PMID: 24992825
Reumatol Clin · 2015
1.00
2
MCF2L-AS1 promotes the biological behaviors of hepatocellular carcinoma cells by regulating the miR-33a-5p/FGF2 axis.
PMID: 37432067
Aging (Albany NY) · 2023
0.90
3
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.
PMID: 26584642
BMC Med Genet · 2015
0.80
4
SP1-induced lncRNA MCF2L-AS1 promotes cisplatin resistance in ovarian cancer by regulating IGF2BP1/IGF2/MEK/ERK axis.
PMID: 36245227
J Gynecol Oncol · 2022
0.70
5
A high level of the long non-coding RNA
PMID: 36700469
Bioengineered · 2022
0.60