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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAX
MYC associated transcriptional regulator X
Chromosome 14 Β· 14q23.3
NCBI Gene: 4149Ensembl: ENSG00000125952.21HGNC: HGNC:6913UniProt: G3V302
266PubMed Papers
22Diseases
0Drugs
54Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificpositive regulation of DNA-templated transcriptionMyc-Max complexpheochromocytomahereditary pheochromocytoma-paragangliomaadrenal gland pheochromocytomapolydactyly-macrocephaly syndrome
✦AI Summary

MAX (MYC associated transcriptional regulator X) is a transcriptional regulator that functions as a central component of the MYC/MAX/MXD1 network by forming sequence-specific DNA-binding heterodimers with either MYC or MAD proteins 1. Unlike MYC, MAX expression remains relatively stable and is not significantly modulated during cell proliferation or differentiation, with MAX RNA showing a half-life greater than 3 hours 2. MAX can form homodimers or heterodimerize with MYC to create transcriptionally active complexes, while MAX-MAD complexes act as transcriptional repressors 1. The protein competes with MYC for MAX binding and can inhibit MYC transformation activity 3. Overexpression of MAX promotes erythroid differentiation and confers resistance to drug-mediated apoptosis by reducing functional MYC/MAX complexes relative to MAX/MAX dimers 3. MAX expression can be positively regulated by retinoic acid through transcriptional mechanisms 4. Clinically, germline MAX mutations are associated with hereditary pheochromocytoma, supporting MAX's role as a negative regulator of the MYC network and suggesting that MYC deregulation contributes to hereditary cancer predisposition 1. The MAX gene is located on chromosome 14, a region involved in various hematologic malignancies 2.

Sources cited
1
MAX functions in the MYC/MAX/MXD1 network and germline mutations cause hereditary pheochromocytoma
PMID: 22706201
2
MAX expression is stable during cell cycle and differentiation, with chromosome 14q23 localization
PMID: 1557420
3
MAX competes with MYC for binding, promotes erythroid differentiation, and provides apoptosis resistance
PMID: 9178892
4
Retinoic acid positively regulates MAX expression through transcriptional mechanisms
PMID: 8239509
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
pheochromocytomaOpen Targets
0.81Strong
hereditary pheochromocytoma-paragangliomaOpen Targets
0.74Strong
adrenal gland pheochromocytomaOpen Targets
0.63Moderate
polydactyly-macrocephaly syndromeOpen Targets
0.62Moderate
hereditary neoplastic syndromeOpen Targets
0.55Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.55Moderate
multiple myelomaOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
endometrial cancerOpen Targets
0.41Moderate
colon adenocarcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
osteoarthritis, kneeOpen Targets
0.34Weak
PheochromocytomaUniProt
Polydactyly-macrocephaly syndromeUniProt
Pathogenic Variants54
NM_002382.5(MAX):c.200C>A (p.Ala67Asp)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β˜…β˜…β˜†β˜†2026β†’ Residue 67
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)Pathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_002382.5(MAX):c.100A>T (p.Lys34Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 34
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 97
NM_002382.5(MAX):c.228del (p.Asn78fs)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 78
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)Pathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Neoplasm|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_002382.5(MAX):c.233dup (p.Asn78fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma
β˜…β˜…β˜†β˜†2025β†’ Residue 78
NM_002382.5(MAX):c.3G>A (p.Met1Ile)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_002382.5(MAX):c.271C>T (p.Gln91Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β˜…β˜…β˜†β˜†2024β†’ Residue 91
NM_002382.5(MAX):c.295+1G>APathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β˜…β˜…β˜†β˜†2024
NM_002382.5(MAX):c.295+1G>TPathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma
β˜…β˜…β˜†β˜†2023β†’ Residue 19
NM_002382.5(MAX):c.22G>T (p.Glu8Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β˜…β˜…β˜†β˜†2020β†’ Residue 8
NM_145112.3(MAX):c.36+732delPathogenic
Hereditary pheochromocytoma and paraganglioma
β˜…β˜†β˜†β˜†2026
NM_002382.5(MAX):c.36+1delLikely pathogenic
Hereditary pheochromocytoma and paraganglioma
β˜…β˜†β˜†β˜†2025
NM_002382.5(MAX):c.3G>C (p.Met1Ile)Pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_002382.5(MAX):c.146C>G (p.Ser49Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma
β˜…β˜†β˜†β˜†2025β†’ Residue 49
NM_002382.5(MAX):c.220A>G (p.Met74Val)Likely pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 74
NM_002382.5(MAX):c.171+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2024
NM_002382.5(MAX):c.37-2A>CLikely pathogenic
Hereditary pheochromocytoma and paraganglioma
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
H2AL3Shared pathway100%H2AC21Shared pathway100%H2AC1Shared pathway100%AEBP2Shared pathway100%H2AC12Shared pathway100%CBX2Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
99%
Ovary
93%
Heart
65%
Liver
62%
Brain
57%
Gene Interaction Network
Click a node to explore
MAXH2AL3H2AC21H2AC1AEBP2H2AC12CBX2
PROTEIN STRUCTURE
Preparing viewer…
PDB6G6K Β· 1.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.29Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.29]
RankingsWhere MAX stands among ~20K protein-coding genes
  • #1,413of 20,598
    Most Researched266 Β· top 10%
  • #1,255of 5,498
    Most Pathogenic Variants54 Β· top quartile
  • #1,044of 17,882
    Most Constrained (LOEUF)0.29 Β· top 10%
Genes detectedMAX
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Aging, VO
PMID: 35343209
Indian J Pharmacol Β· 2022
1.00
2
Soy and Gut Microbiota: Interaction and Implication for Human Health.
PMID: 27798832
J Agric Food Chem Β· 2016
0.90
3
MAX and MYC: a heritable breakup.
PMID: 22706201
Cancer Res Β· 2012
0.80
4
Myc's secret life without Max.
PMID: 19887915
Cell Cycle Β· 2009
0.70
5
CSNK2A1-mediated MAX phosphorylation upregulates HMGB1 and IL-6 expression in cholangiocarcinoma progression.
PMID: 37347224
Hepatol Commun Β· 2023
0.60