Gene Gene information from NCBI Gene database.
Entrez ID 4609
Gene name MYC proto-oncogene, bHLH transcription factor
Gene symbol MYC
Synonyms (NCBI Gene)
MRTLMYCCbHLHe39c-Myc
Chromosome 8
Chromosome location 8q24.21
Summary This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs28933407 C>T Pathogenic Coding sequence variant, missense variant
rs121918683 A>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121918684 G>C Pathogenic Missense variant, coding sequence variant
rs121918685 C>G Pathogenic Missense variant, coding sequence variant
rs750664148 A>C,G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
792
miRTarBase ID miRNA Experiments Reference
MIRT003748 hsa-let-7c-5p Luciferase reporter assay 17877811
MIRT003748 hsa-let-7c-5p Luciferase reporter assay 17877811
MIRT003748 hsa-let-7c-5p Luciferase reporter assay 17877811
MIRT003748 hsa-let-7c-5p Luciferase reporter assay 17877811
MIRT003748 hsa-let-7c-5p Luciferase reporter assay 17877811
Transcription factors Transcription factors information provided by TRRUST V2 database.
93
Transcription factor Regulation Reference
AATF Activation 20549547
AHR Unknown 11114727;16091746
APC Repression 16510874
AR Unknown 24512546
BCL6 Activation 21394099
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
131
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 25438055
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9924025, 10412034, 18393360, 19160485
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19786833
GO:0000165 Process MAPK cascade IMP 17873522
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190080 7553 ENSG00000136997
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01106
Protein name Myc proto-oncogene protein (Class E basic helix-loop-helix protein 39) (bHLHe39) (Proto-oncogene c-Myc) (Transcription factor p64)
Protein function Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3' (PubMed:24940000, PubMed:25956029). Activates the transcription of growth-related genes (PubMed:24940000, PubMed:259
PDB 1A93 , 1EE4 , 1MV0 , 1NKP , 2A93 , 2OR9 , 4Y7R , 5I4Z , 5I50 , 6C4U , 6E16 , 6E24 , 6G6J , 6G6K , 6G6L , 7T1Y , 7T1Z , 8J2Q , 8OTS , 8OTT , 8Q1N , 8WLG , 8X8S , 8X8V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01056 Myc_N 1 345 Myc amino-terminal region Family
PF00010 HLH 355 407 Helix-loop-helix DNA-binding domain Domain
PF02344 Myc-LZ 408 438 Myc leucine zipper domain Coiled-coil
Sequence
Sequence length 439
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
ErbB signaling pathway
Cell cycle
PI3K-Akt signaling pathway
Cellular senescence
Wnt signaling pathway
TGF-beta signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Thyroid hormone signaling pathway
Salmonella infection
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Colorectal cancer
Endometrial cancer
Thyroid cancer
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
  Transcription of E2F targets under negative control by DREAM complex
NOTCH1 Intracellular Domain Regulates Transcription
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Binding of TCF/LEF:CTNNB1 to target gene promoters
MAPK6/MAPK4 signaling
Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
Cyclin E associated events during G1/S transition
Cyclin A:Cdk2-associated events at S phase entry
TFAP2 (AP-2) family regulates transcription of cell cycle factors
RUNX3 regulates WNT signaling
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs750664148 RCV003883217
Burkitt lymphoma Pathogenic rs28933407, rs121918683, rs121918684 RCV000013402
RCV000013403
RCV000013404
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholesteatoma of middle ear other rs2130093441, rs121918685 RCV003159078
RCV003159073
Classic Hodgkin lymphoma Uncertain significance rs4645959 RCV002227948
MYC-related disorder Uncertain significance; Benign; Likely benign rs4645959, rs2070582, rs760785153 RCV003971198
RCV003974054
RCV003977180
Neoplasm other rs121918685 RCV004668720
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Stimulate 25479599
Abnormalities Drug Induced Associate 27463019
Abortion Habitual Inhibit 28661480
Accessory Nerve Injuries Associate 35892263
Achalasia Addisonianism Alacrimia syndrome Associate 26892631, 26931436, 29785017, 29903764, 30210134, 31171907, 31288832, 31315646, 31518494, 32311849, 33168821, 34289655, 34698437, 36823603
Acidosis Inhibit 24152439
Acne Vulgaris Associate 24114350
Acquired Immunodeficiency Syndrome Associate 17405744, 20614267, 2840989, 3491176, 8043869
Acquired Immunodeficiency Syndrome Stimulate 8025268
Acute Aortic Syndrome Associate 33953793