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 156
Unique public DNA variants reported 105
Individuals with public variants 108
Hidden variants 30
Download all this gene's data Download all data
Notes 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 October 24, 2021
Version MITF:211024

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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013652 3 transcript variant 1 NM_198159.2 NP_937802.1 156
00024228 3 transcript variant 4 NM_000248.3 NP_000239.1 89


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 © 2009-2021. 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.