The MAF gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol MAF
Gene name v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
Chromosome 16
Chromosomal band q22-q23
Imprinted Unknown
Genomic reference NG_016440.1
Transcript reference NM_001031804.2, NM_005360.4
Exon/intron information NM_005360.4 exon/intron table
Associated with diseases AYGRP, CTCRT21
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 42
Unique public DNA variants reported 38
Individuals with public variants 45
Hidden variants 4
Notes This database is one of the "Eye disease" gene variant databases.
Date created March 01, 2010
Date last updated November 01, 2022
Version MAF:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005360.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6776
Entrez Gene 4094
PubMed articles MAF
OMIM - Gene 177075
OMIM - Diseases AYGRP (Ayme-Gripp syndrome (AYGRP))
Orphanet MAF

Active transcripts




NCBI ID     

NCBI Protein ID     

00011645 16 transcript variant 2 NM_001031804.2 NP_001026974.1 42
00024190 16 v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog, transcript variant 1 NM_005360.4 NP_005351.2 24

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.