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 CMM-8, COMMAD, TADS, WS-2A, WS-2OA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 40
Individuals with public variants 14
Hidden variants 0
Download all this gene's data Download all data
Notes 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 February 10, 2017
Version MITF:170210

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
External URL Orphanet
HGNC 7105
Entrez Gene 4286
PubMed articles MITF
OMIM - Gene 156845
OMIM - Diseases CMM-8 (melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM-8))
COMMAD (COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness))
TADS (Tietz albinism-deafness syndrome (TADS))
WS-2A (Waardenburg syndrome, type 2A (WS-2A))
WS-2OA (albinism, ocular, with sensorineural deafness (Waardenburg syndrome, type 2 (WS-2OA)))
GeneCards MITF
GeneTests MITF

Active transcripts




NCBI ID     

NCBI Protein ID     

00013652 3 transcript variant 1 NM_198159.2 NP_937802.1 49
00024228 3 transcript variant 4 NM_000248.3 NP_000239.1 42

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2009-2019. 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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