Overview

Location [1]
16q23.2
Protein [2]
Transcription factor Maf
Synonyms [1]
CCA4, CTRCT21, c-MAF, AYGRP

V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) is a gene that encodes a protein that, depending on the binding site and binding partner, functions as a transcriptional activator or repressor. The protein is also involved in the regulation of cellular processes such as embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Fusions, missense mutations, nonsense mutations, silent mutations, and in-frame deletions are observed in cancers such as intestinal cancer, stomach cancer, and urinary tract cancer.

MAF is altered in 0.51% of all cancers with colon adenocarcinoma, lung adenocarcinoma, adenocarcinoma of unknown primary, endometrial endometrioid adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

MAF GENIE Cases - Top Diseases

The most common alterations in MAF are MAF Loss (0.08%), MAF G145S (0.55%), MAF G204V (0.78%), MAF G238del (0.05%), and MAF A239T (0.03%) [3].

MAF GENIE Cases - Top Alterations

Significance of MAF in Diseases

Multiple Myeloma +

Plasma Cell Leukemia +

Chronic Lymphocytic Leukemia +

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Lymphoma +

Aplastic Anemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

Myeloproliferative Neoplasm +

Plasmacytoma +

Prolymphocytic Leukemia +

Small Lymphocytic Lymphoma +

Smoldering Plasma Cell Myeloma +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Triple-Hit Lymphoma +

Waldenstrom Macroglobulinemia +

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.