The MITF gene homepage

General information
Gene symbol MITF
Gene name microphthalmia-associated transcription factor
Chromosome 3
Chromosomal band p14.1-p12.3
Imprinted Unknown
Genomic reference NG_011631.1
Transcript reference NM_000248.3, NM_198159.2
Exon/intron information NM_198159.2 exon/intron table
Associated with diseases CMM8, COMMAD, TADS, WS2A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Veronique Pingault
Total number of public variants reported 165
Unique public DNA variants reported 109
Individuals with public variants 111
Hidden variants 30
Download all this gene's data Download all data
Notes Change to MANE select NM_001354604.2
Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 17, 2009
Date last updated January 13, 2023
Version MITF:230113

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_198159.2.
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 7105
Entrez Gene 4286
PubMed articles MITF
OMIM - Gene 156845
OMIM - Diseases CMM8 (melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM8))
COMMAD (COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness))
TADS (Tietz albinism-deafness syndrome (TADS))
WS2A (Waardenburg syndrome, type 2A (WS2A))
GeneCards MITF
GeneTests MITF
Orphanet MITF

Active transcripts




NCBI ID     

NCBI Protein ID     

00013652 3 transcript variant 1 NM_198159.2 NP_937802.1 164
00024228 3 transcript variant 4 NM_000248.3 NP_000239.1 98

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 © 2009-2023. 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.

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