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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
52
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Pathogenic rs750664148 RCV003883217
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Burkitt lymphoma Pathogenic rs28933407, rs121918683, rs121918684 RCV000013402
RCV000013403
RCV000013404
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, DUCTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 1575012
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 19673870
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 11843291
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16856965, 25784651, 25800664, 27810071, 3165487, 8324225, 8632682
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12580957, 14576768, 18005389, 22563559, 22911553, 23673335, 23997116, 24686171, 24829203, 25194570, 26857438, 27095570, 27987331, 29022749, 29407586
View all (7 more)
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 3165487
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 25956709
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 18656691
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 25956709
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12550765, 16631470, 19324018, 19408305, 20113841, 21059853, 24095829, 2444981, 26545364, 27486764, 3325877, 6298632, 8012982
★☆☆☆☆
Found in Text Mining only