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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MLANA
melan-A
Chromosome 9 · 9p24.1
NCBI Gene: 2315Ensembl: ENSG00000120215.10HGNC: HGNC:7124UniProt: A0A384MR46
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum membranetrans-Golgi networkmelanosomeadolescent idiopathic scoliosisanxiety disorderdrug allergymelanoma
✦AI Summary

MLANA (melan-A/MART-1) is a melanocyte-lineage protein that plays a critical role in melanosome biogenesis and serves as an important melanoma diagnostic and therapeutic target. MLANA is transcriptionally regulated by MITF, a master transcription factor essential for melanocyte development 1. The protein functions in melanosome assembly, likely through stabilization of GPR143 and regulation of PMEL processing, contributing to stage II melanosome formation. MLANA contains conserved HLA-A2-restricted T cell epitopes recognized by melanoma-reactive cytotoxic T lymphocytes (CTLs) derived from tumor-infiltrating lymphocytes 2. These epitopes have intermediate HLA-A2 binding affinity and are efficiently presented to induce melanoma-reactive immune responses. Clinically, MLANA serves as a diagnostic marker in melanoma via the melan-A antibody (HMB-45), and its expression correlates with MITF levels across melanoma cell lines and primary tumors 1. Beyond melanoma, MLANA has emerged as a plasma biomarker in head and neck squamous cell carcinoma (HNSCC), where elevated plasma levels predict tumor progression and independent prognostic significance for progression-free survival in patients receiving chemoradiation therapy 3. MLANA's role in adaptive cell transfer immunotherapy and its tumor-associated expression position it as both a diagnostic tool and potential immunotherapeutic target.

Sources cited
1
MLANA is transcriptionally regulated by MITF transcription factor and expresses with SILV in melanomas; MITF binds conserved consensus sequences in MLANA promoter/enhancer regions
PMID: 12819038
2
MLANA encodes melanoma antigen MART-1 recognized by HLA-A2-restricted CTLs; contains multiple unmutated self-peptide T cell epitopes with intermediate HLA-A2 binding affinity
PMID: 9131386
3
High plasma MLANA levels predict tumor progression in HNSCC patients treated with chemoradiation therapy; elevated in patients with disease relapse and independent prognostic factor for progression-free survival
PMID: 30803092
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.31Weak
anxiety disorderOpen Targets
0.16Weak
drug allergyOpen Targets
0.14Weak
melanomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.07Suggestive
Griscelli syndrome type 3Open Targets
0.07Suggestive
uncombable hair syndromeOpen Targets
0.06Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
VitiligoOpen Targets
0.05Suggestive
pili bifurcatiOpen Targets
0.05Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.05Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
Waardenburg syndrome type 2Open Targets
0.05Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
Tietze syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLA-DRAProtein interaction100%PMELProtein interaction99%DCTProtein interaction99%TYRProtein interaction99%MITFProtein interaction98%SLC45A2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
99%
Lung
91%
Heart
84%
Ovary
77%
Brain
51%
Gene Interaction Network
Click a node to explore
MLANAHLA-DRAPMELDCTTYRMITFSLC45A2
PROTEIN STRUCTURE
Preparing viewer…
PDB2GTW · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.55 [1.02–1.93]
RankingsWhere MLANA stands among ~20K protein-coding genes
  • #6,732of 20,598
    Most Researched70
  • #17,506of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedMLANA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hepatic angiomyolipoma.
PMID: 18834230
Arch Pathol Lab Med · 2008
1.00
2
MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma.
PMID: 12819038
Am J Pathol · 2003
0.90
3
Immunobiology of human melanoma antigens MART-1 and gp100 and their use for immuno-gene therapy.
PMID: 9131386
Int Rev Immunol · 1997
0.80
4
Brown cornea.
PMID: 18193447
Graefes Arch Clin Exp Ophthalmol · 2008
0.70
5
Lower Eyelid Lesion.
PMID: 26270402
JAMA Ophthalmol · 2015
0.60