Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
15q22.31
Pathway
MAP kinase signaling
Protein [2]
Dual specificity mitogen-activated protein kinase kinase 1
Synonyms [1]
CFC3, MEK1, MKK1, MAPKK1, MEL, PRKMK1

MAP2K1 (mitogen-activated protein kinase kinase 1, also known as MEK1) encodes for the protein dual specificity mitogen-activated protein kinase kinase 1. As part of the MAP kinase pathway, MAP2K1 is involved in many cellular processes, including cell proliferation, differentiation, and transcriptional regulation.

 

MAP2K1 is altered in 1.05% of all cancers with cutaneous melanoma, lung adenocarcinoma, colon adenocarcinoma, melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

MAP2K1 GENIE Cases - Top Diseases

The most common alterations in MAP2K1 are MAP2K1 Mutation (0.94%), MAP2K1 Exon 2 Mutation (0.36%), MAP2K1 Exon 3 Mutation (0.28%), MAP2K1 Exon 6 Mutation (0.14%), and MAP2K1 E203K (0.08%) [3].

MAP2K1 GENIE Cases - Top Alterations

Significance of MAP2K1 in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Colorectal Carcinoma +

Glioma +

Low Grade Glioma +

Thyroid Gland Carcinoma +

Ovarian Carcinoma +

Acute Myeloid Leukemia +

Cutaneous Melanoma +

Ganglioglioma +

Neuronal And Mixed Neuronal-Glial Tumors +

Endometrial Carcinoma +

Cancer +

Esophageal Carcinoma +

Diffuse Glioma +

Gastric Carcinoma +

Astrocytic Tumor +

Mucosal Melanoma +

Pilocytic Astrocytoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Cholangiocarcinoma +

Multiple Myeloma +

Breast Carcinoma +

Renal Cell Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Myeloid Neoplasm +

Chronic Myelomonocytic Leukemia +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Gangliocytoma +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Peripheral Nerve Sheath Tumor +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic Syndromes +

Neuroblastoma +

Neurofibromatosis Type 1 +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.