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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MIA
MIA SH3 domain containing
Chromosome 19 · 19q13.2
NCBI Gene: 8190Ensembl: ENSG00000261857.8HGNC: HGNC:7076UniProt: Q16674
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrix organizationGO:0005615extracellular regionneurodegenerative diseasemucocutaneous lymph node syndromechronic obstructive pulmonary diseasemedical procedure
✦AI Summary

Based on the provided abstracts, the MIA gene encodes a secreted protein with growth inhibitory effects on melanoma cells and other neuroectodermal tumors including gliomas 1. The MIA gene consists of four exons with an mRNA initiation site located 70 base pairs upstream from the translation start codon 1. Expression analysis reveals that MIA mRNA levels correlate with progressive malignancy of melanocytic lesions in vivo and can be induced by phorbol ester treatment 1. The gene's promoter contains an NF-κB binding site that contributes to basal promoter activity specifically in melanoma cells, though phorbol ester enhancement appears to be mediated through additional regulatory elements 1. However, the provided abstracts contain limited information about the specific molecular mechanisms underlying MIA's growth inhibitory function or its broader physiological roles beyond melanoma. The disease relevance appears primarily focused on melanoma and related neuroectodermal tumors, where MIA may function as a tumor suppressor. Clinical significance remains unclear from the available literature, as most abstracts discuss unrelated research using 'MIA' as an acronym for other concepts rather than the MIA SH3 domain containing gene.

Sources cited
1
MIA protein is secreted from malignant melanoma cells and elicits growth inhibition on melanoma cells and other neuroectodermal tumors including gliomas
PMID: 8550608
2
MIA gene structure consists of four exons with mRNA initiation site 70 base pairs upstream from translation start codon
PMID: 8550608
3
MIA mRNA expression correlates with progressive malignancy of melanocytic lesions and is inducible by phorbol esters
PMID: 8550608
4
MIA promoter contains NF-κB site that contributes to basal promoter activity specifically in melanoma cells
PMID: 8550608
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
mucocutaneous lymph node syndromeOpen Targets
0.34Weak
chronic obstructive pulmonary diseaseOpen Targets
0.29Weak
medical procedureOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.04Suggestive
melanomaOpen Targets
0.03Suggestive
osteoarthritisOpen Targets
0.03Suggestive
chronic bronchitisOpen Targets
0.03Suggestive
Hammer Toe SyndromeOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
VitiligoOpen Targets
0.02Suggestive
chondrosarcomaOpen Targets
0.02Suggestive
cervical squamous cell carcinomaOpen Targets
0.01Suggestive
fibrodysplasia ossificans progressivaOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAMTSL5Shared pathway100%COL6A5Shared pathway100%COL24A1Shared pathway100%COL22A1Shared pathway100%COL6A6Shared pathway100%ADAMTSL1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
61%
Lung
22%
Brain
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MIAADAMTSL5COL6A5COL24A1COL22A1COL6A6ADAMTSL1
PROTEIN STRUCTURE
Preparing viewer…
PDB1I1J · 1.39 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.54–1.29]
RankingsWhere MIA stands among ~20K protein-coding genes
  • #7,891of 20,598
    Most Researched58
  • #13,568of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedMIA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders.
PMID: 24315484
Cell · 2013
1.00
2
Delineating mouse β-cell identity during lifetime and in diabetes with a single cell atlas.
PMID: 37697055
Nat Metab · 2023
0.90
3
Maternal IL-17A in autism.
PMID: 28455196
Exp Neurol · 2018
0.80
4
Structure and promoter analysis of the gene encoding the human melanoma-inhibiting protein MIA.
PMID: 8550608
J Biol Chem · 1996
0.70
5
Molecular subtyping of stage I lung adenocarcinoma via molecular alterations in pre-invasive lesion progression.
PMID: 40038757
J Transl Med · 2025
0.60