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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MIPOL1
mirror-image polydactyly 1
Chromosome 14 · 14q13.3-q21.1
NCBI Gene: 145282Ensembl: ENSG00000151338.21HGNC: HGNC:21460UniProt: A0A8Q3SHY7
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingnucleuscytosolhemorrhoidneurodegenerative diseaseurinary bladder cancerBack pain
✦AI Summary

MIPOL1 (Mirror-Image Polydactyly 1) is a gene encoding a 442-amino acid protein primarily associated with limb development and tumor suppression. The gene spans approximately 350 kb on chromosome 14, comprises 15 exons, and shows weak expression in adult heart, liver, skeletal muscle, kidney, and pancreas, with stronger expression in fetal kidney 1. During embryonic development, mouse Mipol1 is broadly expressed throughout E10.5-E13.5 embryos, suggesting roles in early developmental processes 1. MIPOL1 functions as a disease-causing gene for non-syndromic polydactyly, with disruptions leading to mirror-image polydactyly characterized by mirror-image duplication of digits 12. The protein localizes to both cytosol and nucleus and exhibits protein binding capabilities. Additionally, MIPOL1 acts as a tumor suppressor in nasopharyngeal carcinoma, where it is downregulated in tumor tissues 3. Re-expression of MIPOL1 inhibits angiogenesis and metastasis by downregulating angiogenic factors, reducing phosphorylation of metastasis-associated proteins (AKT, p65, FAK), and interacting with tumor suppressor RhoB to enhance its activity 3. MIPOL1 has also been identified as a prognostic marker in oral squamous cell carcinoma 4.

Sources cited
1
MIPOL1 gene structure, size, expression pattern, and association with mirror-image polydactyly
PMID: 11954550
2
MIPOL1 as one of four identified disease-causing genes for non-syndromic polydactyly
PMID: 26515020
3
MIPOL1 functions as tumor suppressor in nasopharyngeal carcinoma, inhibiting angiogenesis and metastasis
PMID: 31609475
4
MIPOL1 as prognostic marker in oral squamous cell carcinoma
PMID: 35922788
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hemorrhoidOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.35Weak
urinary bladder cancerOpen Targets
0.32Weak
Back painOpen Targets
0.32Weak
nephrolithiasisOpen Targets
0.30Weak
urolithiasisOpen Targets
0.30Weak
PainOpen Targets
0.30Weak
bladder tumorOpen Targets
0.29Weak
prostate carcinomaOpen Targets
0.29Weak
Joint stiffnessOpen Targets
0.22Weak
multiple sclerosisOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.17Weak
vertebral column disorderOpen Targets
0.12Weak
vertebral disorderOpen Targets
0.12Weak
spinal stenosisOpen Targets
0.10Suggestive
vertebral joint diseaseOpen Targets
0.10Suggestive
edemaOpen Targets
0.09Suggestive
type 1 diabetes mellitusOpen Targets
0.09Suggestive
tooth diseaseOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRKProtein interaction100%BLOC1S6Protein interaction100%RPAP2Protein interaction100%SLC25A21Protein interaction79%KPNA5Protein interaction78%ASTN2Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Brain
69%
Lung
55%
Liver
54%
Heart
41%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
MIPOL1FRKBLOC1S6RPAP2SLC25A21KPNA5ASTN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4G0U7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.82–1.45]
RankingsWhere MIPOL1 stands among ~20K protein-coding genes
  • #10,205of 20,598
    Most Researched40
  • #14,872of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedMIPOL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Advances in the molecular genetics of non-syndromic polydactyly.
PMID: 26515020
Expert Rev Mol Med · 2015
1.00
2
Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma.
PMID: 31609475
Int J Cancer · 2020
0.90
3
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.
PMID: 36067927
Eur J Med Genet · 2022
0.80
4
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
PMID: 12700605
Eur J Hum Genet · 2003
0.70
5
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
PMID: 11954550
J Hum Genet · 2002
0.60