MYC MYC proto-oncogene, bHLH transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYCprovided by HGNC
Official Full Name: MYC proto-oncogene, bHLH transcription factorprovided by HGNC
Primary source: HGNC:HGNC:7553
See related: Ensembl:ENSG00000136997 MIM:190080; AllianceGenome:HGNC:7553
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRTL; MYCC; c-Myc; bHLHe39
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 the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]
Expression: Ubiquitous expression in gall bladder (RPKM 49.6), esophagus (RPKM 44.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (127735434..127742951)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (128862888..128870405)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (128747680..128755197)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
Title: Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma.
MYC Induces Oncogenic Stress through RNA Decay and Ribonucleotide Catabolism in Breast Cancer.
Title: MYC Induces Oncogenic Stress through RNA Decay and Ribonucleotide Catabolism in Breast Cancer.
TRIM40 interacts with ROCK1 directly and inhibits colorectal cancer cell proliferation through the c-Myc/p21 axis.
Title: TRIM40 interacts with ROCK1 directly and inhibits colorectal cancer cell proliferation through the c-Myc/p21 axis.
ADAMTS4 exacerbates lung cancer progression via regulating c-Myc protein stability and activating MAPK signaling pathway.
Title: ADAMTS4 exacerbates lung cancer progression via regulating c-Myc protein stability and activating MAPK signaling pathway.
SOX2 represses c-MYC transcription by altering the co-activator landscape of the c-MYC super-enhancer and promoter regions.
Title: SOX2 represses c-MYC transcription by altering the co-activator landscape of the c-MYC super-enhancer and promoter regions.
[Amplifiation of the c-MYC gene in acinar prostate adenocarcinoma. Morphogenic comparisons].
Title: [Amplifiation of the c-MYC gene in acinar prostate adenocarcinoma. Morphogenic comparisons].
Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.
Title: Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.
A novel MYC-ZNF706-SLC7A11 regulatory circuit contributes to cancer progression and redox balance in human hepatocellular carcinoma.
Title: A novel MYC-ZNF706-SLC7A11 regulatory circuit contributes to cancer progression and redox balance in human hepatocellular carcinoma.
Intron Retention of DDX39A Driven by SNRPD2 is a Crucial Splicing Axis for Oncogenic MYC/Spliceosome Program in Hepatocellular Carcinoma.
Title: Intron Retention of DDX39A Driven by SNRPD2 is a Crucial Splicing Axis for Oncogenic MYC/Spliceosome Program in Hepatocellular Carcinoma.
CircCFL1 Promotes TNBC Stemness and Immunoescape via Deacetylation-Mediated c-Myc Deubiquitylation to Facilitate Mutant TP53 Transcription.
Title: CircCFL1 Promotes TNBC Stemness and Immunoescape via Deacetylation-Mediated c-Myc Deubiquitylation to Facilitate Mutant TP53 Transcription.

Submit: New GeneRIF Correction See all GeneRIFs (2285)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Burkitt lymphoma MedGen: C0006413 OMIM: 113970 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A common variant at 8q24.21 is associated with renal cell cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. EBI GWAS Catalog EBI GWAS CatalogPubMed
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan for variants associated with early-onset prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 downregulates expression of c-Myc, Max, and 14-3-3epsilon proteins, and decreases phosphorylation of ATP-dependent tyrosine kinases (Akt) at Ser-473 in human mesangial cells (HMC)	PubMed
Tat	tat	HIV-1 Tat induces polyubiquitination of MYC due to relocalizing TRIM32 into the nucleus of human neural precursor cells	PubMed
	tat	SKIP recruits c-Myc and TRRAP to the HIV-1 Tat-activated LTR promoter. The c-Myc:TRRAP complex is repressive to HIV-1 transcription under UV stress	PubMed
	tat	HIV-1 Tat-activated expression of an LTR-driven CAT reporter is decreased by the presence of c-Myc in a dose-dependent fashion	PubMed
	tat	HIV-1 Tat upregulates c-myc transcription in certain B-cell lines, salivary gland cell lines, and A549 human bronco alveolar carcinoma cells	PubMed
matrix	gag	HIV-1 MA increases phosphorylation and the DNA-binding activity of CREB and c-Myc through activation of the cAMP/PKA and MEK/ERK signaling pathways. Both signaling pathways are synergistically activated upon co-stimulation through the CD19 receptor	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Myc (e-PCR), detects polymorphism
- UniSTS:257027

PMC156147P1 (e-PCR)
- UniSTS:271368

G15987 (e-PCR)
- UniSTS:68875

PMC102803P1 (e-PCR)
- UniSTS:270093

MYC_3297 (e-PCR)
- UniSTS:462364

MYC (e-PCR), detects polymorphism
- UniSTS:504377

PMC108928P1 (e-PCR)
- UniSTS:270144

D8S1980 (e-PCR)
- UniSTS:51062

PMC209426P2 (e-PCR)
- UniSTS:271994

PMC303366P10 (e-PCR)
- UniSTS:272507

GDB:178394 (e-PCR)
- UniSTS:155003

MYC (e-PCR), detects polymorphism
- UniSTS:266881

PMC140827P1 (e-PCR)
- UniSTS:270979

MARC_31575-31576:1045674460:1 (e-PCR)
- UniSTS:269196

PMC193934P1 (e-PCR)
- UniSTS:271770

PMC134733P6 (e-PCR)
- UniSTS:270754

Myc (e-PCR), detects polymorphism
- UniSTS:256954

RH78926 (e-PCR)
- UniSTS:32710

PMC309637P1 (e-PCR)
- UniSTS:272595

PMC127396P1 (e-PCR)
- UniSTS:270553

PMC127396P2 (e-PCR)
- UniSTS:270554

PMC127396P3 (e-PCR)
- UniSTS:270555

WI-19203 (e-PCR)
- UniSTS:71649

PMC150726P6 (e-PCR)
- UniSTS:271078

PMC150726P9 (e-PCR)
- UniSTS:271081

PMC129440P1 (e-PCR)
- UniSTS:270590

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables SCF ubiquitin ligase complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to UV	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromosome organization	IDA Inferred from Direct Assay more info	PubMed
involved_in fibroblast apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in intracellular iron ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect negative regulation of gene expression via chromosomal CpG island methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of monocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stress-activated MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of metanephric cap mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-DNA complex disassembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of rRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of somatic stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to gamma radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to growth factor	TAS Traceable Author Statement more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of Myc-Max complex	IPI Inferred from Physical Interaction more info	PubMed
part_of RNA polymerase II transcription repressor complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myc proto-oncogene protein

Names: avian myelocytomatosis viral oncogene homolog; class E basic helix-loop-helix protein 39; myc-related translation/localization regulatory factor; proto-oncogene c-Myc; transcription factor p64; v-myc avian myelocytomatosis viral oncogene homolog; v-myc myelocytomatosis viral oncogene homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007161.2 RefSeqGene

Range

5798..12518

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1397

mRNA and Protein(s)

NM_001354870.1 → NP_001341799.1 myc proto-oncogene protein isoform 2

Status: REVIEWED

Source sequence(s)

AC103819, EH335289, K02276, M13930

Consensus CDS

CCDS87627.1

UniProtKB/TrEMBL

B4E1N7

Related

ENSP00000430235.2, ENST00000524013.2

Conserved Domains (3) summary

cd00083
Location:369 → 425

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam01056
Location:20 → 359

Myc_N; Myc amino-terminal region

pfam02344
Location:422 → 452

Myc-LZ; Myc leucine zipper domain
NM_002467.6 → NP_002458.2 myc proto-oncogene protein isoform 1

See identical proteins and their annotated locations for NP_002458.2

Status: REVIEWED

Source sequence(s)

AC103819

Consensus CDS

CCDS6359.2

UniProtKB/Swiss-Prot

A0A024R9L7, A0A087WUS5, A8WFE7, H0YBT0, P01106, P01107, Q14026

UniProtKB/TrEMBL

B4E1N7

Related

ENSP00000478887.2, ENST00000621592.8

Conserved Domains (3) summary

cd00083
Location:370 → 426

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam01056
Location:21 → 360

Myc_N; Myc amino-terminal region

pfam02344
Location:423 → 453

Myc-LZ; Myc leucine zipper domain