MYCL (MYCL Proto-Oncogene, BHLH Transcription Factor)
A member of the MYC family of basic helix-loop-helix transcription factors involved in cell growth, proliferation, and differentiation; frequently altered in lung cancer.
Gene Information Card
| Symbol | MYCL |
|---|---|
| Full Name | MYCL proto-oncogene, bHLH transcription factor |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 4610 ncbi.nlm.nih.gov/gene/4610 |
| Ensembl ID | ENSG00000116984 |
| UniProt ID | P12524 |
| OMIM ID | 164850 |
| HGNC ID | 7555 |
| Aliases | MYCL1, LMYC, bHLHe38 |
Description
MYCL (MYCL proto-oncogene, bHLH transcription factor) encodes a member of the MYC family of basic helix-loop-helix (bHLH) leucine zipper transcription factors. The protein forms heterodimers with MAX and binds to E-box DNA sequences to regulate transcription of genes involved in cell cycle progression, apoptosis, and metabolism. MYCL is frequently amplified or overexpressed in small cell lung cancer and other malignancies, contributing to oncogenic transformation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Small Cell Lung Cancer (SCLC) | Amplification and overexpression of MYCL drive tumorigenesis by promoting cell proliferation and inhibiting differentiation. | COSMIC; NCBI Gene; OMIM |
| Lung Cancer (non-small cell) | MYCL amplification is observed in a subset of NSCLC cases, associated with poor prognosis. | COSMIC; ClinVar |
| Neuroblastoma | MYCL amplification has been reported in aggressive neuroblastoma, contributing to MYC-driven oncogenesis. | COSMIC; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 3.2 | Low |
| Brain | 1.8 | Low |
| Testis | 1.5 | Low |
| Placenta | 1.2 | Low |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H69 (SCLC) | 12.5 | High expression; MYCL amplified |
| DMS 53 (SCLC) | 10.1 | High expression |
| NCI-H82 (SCLC) | 8.7 | High expression |
| A549 (NSCLC) | 2.3 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; uncertain significance |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown effect; rare |
| Amplification | Copy number gain | ~15% in SCLC | Increased gene dosage leading to overexpression |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; MYCL is primarily oncogenic through gain-of-function mechanisms.
Gain of Function (GOF)
Amplification and overexpression lead to increased transcriptional activity, promoting cell proliferation and survival.
Dominant Negative (DN)
No dominant-negative mutations described for MYCL.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MYC/Max transcriptional activation (Reactome: R-HSA-212436)
• Transcriptional regulation by MYC (KEGG: hsa05202)
• Small cell lung cancer (KEGG: hsa05222)
Protein Summary
MYCL is a 364-amino acid nuclear protein containing a basic helix-loop-helix (bHLH) domain and a leucine zipper motif. It heterodimerizes with MAX to bind E-box sequences (CACGTG) and activate transcription of target genes involved in cell growth, metabolism, and differentiation. MYCL lacks a transactivation domain present in MYC, suggesting distinct regulatory mechanisms. The protein is predominantly expressed in fetal tissues and certain cancers, particularly small cell lung cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYCL Knockout HEK293 Cell Line | EDJ-KQ3627 | Human | 4610 | Details Get a Quote |
| MYCL Knockout A-549 Cell Line | EDJ-KQ25567 | Human | 4610 | Details Get a Quote |
| MYCL Knockout HCT 116 Cell Line | EDJ-KQ25568 | Human | 4610 | Details Get a Quote |
| MYCL Knockout HeLa Cell Line | EDJ-KQ53933 | Human | 4610 | Details Get a Quote |
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