The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waarden... See more...

Aliases for MITF Gene

Aliases for MITF Gene

  • Melanocyte Inducing Transcription Factor 2 3 5
  • Microphthalmia-Associated Transcription Factor 2 3 4
  • BHLHe32 2 3 4
  • Melanogenesis Associated Transcription Factor 2 3
  • Class E Basic Helix-Loop-Helix Protein 32 3 4
  • MI 2 3
  • Microphtalmia-Associated Transcription Factor 3
  • Homolog Of Mouse Microphthalmia 2
  • Waardenburg Syndrome, Type 2A 2
  • BHLHE32 4
  • COMMAD 3
  • CMM8 3
  • WS2A 3
  • MITF 5
  • WS2 3

External Ids for MITF Gene

Previous HGNC Symbols for MITF Gene

  • WS2A
  • WS2

Previous GeneCards Identifiers for MITF Gene

  • GC03P068328
  • GC03P069162
  • GC03P069612
  • GC03P069721
  • GC03P069871

Summaries for MITF Gene

Entrez Gene Summary for MITF Gene

  • The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

CIViC Summary for MITF Gene

GeneCards Summary for MITF Gene

MITF (Melanocyte Inducing Transcription Factor) is a Protein Coding gene. Diseases associated with MITF include Tietz Albinism-Deafness Syndrome and Melanoma, Cutaneous Malignant 8. Among its related pathways are IL-6 signaling pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TFE3.

UniProtKB/Swiss-Prot Summary for MITF Gene

  • Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.

Gene Wiki entry for MITF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MITF Gene

Genomics for MITF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MITF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J069738 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 260.4 +1.2 1237 5.4 ZNF600 IKZF1 MYC SIX5 ZNF592 CEBPA YY1 CEBPB ETS1 MBD2 MITF HSALNG0026710 RN7SL418P MDFIC2
GH03J069936 Promoter/Enhancer 0.6 EPDnew dbSUPER 250.1 +197.1 197109 0.1 ATF2 MITF piR-38005-040 piR-39416-030 MDFIC2
GH03J069790 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 20.4 +52.3 52345 2.1 ZNF654 NCOR1 IKZF1 ZNF592 NFIC NONO CEBPB REST HES1 MBD2 MITF piR-35674-355 lnc-FRMD4B-3 HSALNG0026712 lnc-FRMD4B-4 MDFIC2
GH03J069865 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.9 +128.8 128766 5.7 ZSCAN16 REST PRDM1 RFX5 TBP FOXA1 RFX1 SP7 POLR2A ZMYM3 MITF lnc-FRMD4B-4 HSALNG0026713 piR-50437-479 MDFIC2
GH03J069796 Enhancer 0.8 Ensembl ENCODE 20.3 +62.6 62637 11.8 JUND ZNF623 FOXA1 ZBTB33 TOE1 ZMYM3 ATF3 FOS ZNF24 ZNF512 MITF piR-50437-479 piR-35674-355 lnc-FRMD4B-4 MDFIC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MITF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MITF

Top Transcription factor binding sites by QIAGEN in the MITF gene promoter:
  • CREB
  • deltaCREB
  • p300
  • STAT3

Genomic Locations for MITF Gene

Latest Assembly
chr3:69,739,464-69,968,336
(GRCh38/hg38)
Size:
228,873 bases
Orientation:
Plus strand

Previous Assembly
chr3:69,788,615-70,017,483
(GRCh37/hg19 by Entrez Gene)
Size:
228,869 bases
Orientation:
Plus strand

chr3:69,788,586-70,017,488
(GRCh37/hg19 by Ensembl)
Size:
228,903 bases
Orientation:
Plus strand

Genomic View for MITF Gene

Genes around MITF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MITF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MITF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MITF Gene

Proteins for MITF Gene

  • Protein details for MITF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75030-MITF_HUMAN
    Recommended name:
    Microphthalmia-associated transcription factor
    Protein Accession:
    O75030
    Secondary Accessions:
    • B4DJL2
    • D3K197
    • E9PFN0
    • Q14841
    • Q9P2V0
    • Q9P2V1
    • Q9P2V2
    • Q9P2Y8

    Protein attributes for MITF Gene

    Size:
    526 amino acids
    Molecular mass:
    58795 Da
    Quaternary structure:
    • Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434). Interacts with KARS1 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378). Interacts with VSX2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for MITF Gene

    Alternative splice isoforms for MITF Gene

neXtProt entry for MITF Gene

Post-translational modifications for MITF Gene

  • Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (PubMed:10587587). Phosphorylated at Ser-180 and Ser-516 following KIT signaling, triggering a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome (PubMed:10673502). Phosphorylated in response to blue light (415nm) (PubMed:28842328).
  • Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for MITF

No data available for DME Specific Peptides for MITF Gene

Domains & Families for MITF Gene

Gene Families for MITF Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MITF Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH

Suggested Antigen Peptide Sequences for MITF Gene

GenScript: Design optimal peptide antigens:
  • Class E basic helix-loop-helix protein 32 (MITF_HUMAN)
  • Microphthalmia-associated transcription factor (Q8IUH6_HUMAN)
  • Microphtalmia-associated transcription factor (Q8TF70_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75030

UniProtKB/Swiss-Prot:

MITF_HUMAN :
  • The leucine zipper region is part of a larger coiled coil.
  • Belongs to the MiT/TFE family.
Domain:
  • The leucine zipper region is part of a larger coiled coil.
Family:
  • Belongs to the MiT/TFE family.
genes like me logo Genes that share domains with MITF: view

Function for MITF Gene

Molecular function for MITF Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
GENATLAS Biochemistry:
mouse microphthalmia (mi) transcription factor homolog,with an isoform MITF-M,regulator of melanocyte specific expression of the tyrosinase and tyrosinase-related proteins (TYRP1,PEDH) through specific E-box elements,involved in melanogenesis,also involved in osteoclastgenesis,an isoform MITF-A highly expressed in retinal pigment epithelium,a second isoform MITF-H weakly expressed

Phenotypes From GWAS Catalog for MITF Gene

Gene Ontology (GO) - Molecular Function for MITF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14737107
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific NAS 24769727
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 14737107
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with MITF: view
genes like me logo Genes that share phenotypes with MITF: view

Human Phenotype Ontology for MITF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MITF Gene

MGI Knock Outs for MITF:
  • Mitf Mitf<tm3.1Arnh>
  • Mitf Mitf<tm3Arnh>
Targeted motifs for MITF Gene
HOMER Transcription Factor Regulatory Elements motif MITF
  • Consensus sequence: RTCATGTGAC Submotif: canonical Cell Type: MastCells GEO ID: GSE48085

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MITF

Clone products for research

  • Addgene plasmids for MITF

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for MITF Gene

Localization for MITF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MITF Gene

Nucleus. Cytoplasm. Note=Found exclusively in the nucleus upon phosphorylation. {ECO:0000269 PubMed:28842328}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MITF gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MITF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,NAS 9647758
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 28842328
GO:0032991 protein-containing complex IDA 20530484
genes like me logo Genes that share ontologies with MITF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MITF Gene

Pathways & Interactions for MITF Gene

genes like me logo Genes that share pathways with MITF: view

SIGNOR curated interactions for MITF Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MITF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 24769727
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9647758
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MITF: view

Drugs & Compounds for MITF Gene

(9) Drugs for MITF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for MITF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MITF: view

Transcripts for MITF Gene

mRNA/cDNA for MITF Gene

13 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MITF

Clone products for research

  • Addgene plasmids for MITF

Alternative Splicing Database (ASD) splice patterns (SP) for MITF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - - - - - - - - - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - - - -
SP6: -
SP7: -
SP8: - - - -
SP9: - - - - - -
SP10: - - -
SP11:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for MITF Gene

GeneLoc Exon Structure for
MITF

Expression for MITF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MITF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MITF Gene

This gene is overexpressed in Muscle - Skeletal (x6.4).

Protein differential expression in normal tissues from HIPED for MITF Gene

This gene is overexpressed in Peripheral blood mononuclear cells (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MITF Gene



Protein tissue co-expression partners for MITF Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MITF

SOURCE GeneReport for Unigene cluster for MITF Gene:

Hs.166017

mRNA Expression by UniProt/SwissProt for MITF Gene:

O75030-MITF_HUMAN
Tissue specificity: Expressed in melanocytes (at protein level).

Evidence on tissue expression from TISSUES for MITF Gene

  • Skin(4.9)
  • Nervous system(4.6)
  • Kidney(4.5)
  • Blood(4.5)
  • Eye(3)
  • Muscle(2.9)
  • Heart(2.7)
  • Intestine(2.2)
  • Lymph node(2.2)
  • Bone(2.1)
  • Lung(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MITF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • nose
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MITF: view

Primer products for research

Orthologs for MITF Gene

This gene was present in the common ancestor of animals.

Orthologs for MITF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MITF 29 30
  • 99.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MITF 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MITF 29 30
  • 93.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MITF 29 30
  • 93.05 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mitf 29 16 30
  • 89.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mitf 29
  • 89.49 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MITF 30
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MITF 29 30
  • 83.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MITF 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mitf 29
  • 77.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia mitfa-A 29
Zebrafish
(Danio rerio)
Actinopterygii mitfb 29 30
  • 68.99 (n)
OneToMany
mitfa 30
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mitf 30
  • 21 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-30 30
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToMany
Species where no ortholog for MITF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MITF Gene

ENSEMBL:
Gene Tree for MITF (if available)
TreeFam:
Gene Tree for MITF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MITF: view image
Alliance of Genome Resources:
Additional Orthologs for MITF

Paralogs for MITF Gene

Paralogs for MITF Gene

(5) SIMAP similar genes for MITF Gene using alignment to 6 proteins:

  • MITF_HUMAN
  • C9J845_HUMAN
  • C9JBI8_HUMAN
  • C9K0S7_HUMAN
  • E9PKJ8_HUMAN
  • Q8TF70_HUMAN
genes like me logo Genes that share paralogs with MITF: view

Variants for MITF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MITF Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1013483 Likely Pathogenic: not provided 69,951,845(+) C/CA
NM_001354604.2(MITF):c.915dup (p.Leu306fs)
FRAMESHIFT
1048556 Likely Pathogenic: Waardenburg syndrome type 2A 69,959,293(+) G/A
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
MISSENSE
1048557 Pathogenic: Waardenburg syndrome type 2A 69,964,957(+) C/CT
NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
FRAMESHIFT
849660 Likely Pathogenic: Tietz syndrome; Waardenburg syndrome type 2A; Cutaneous malignant melanoma 8 69,956,453(+) A/G
NM_001354604.2(MITF):c.956-2A>G
SPLICE_ACCEPTOR
864796 Pathogenic: Tietz syndrome; Waardenburg syndrome type 2A; Cutaneous malignant melanoma 8 69,941,276(+) G/GT
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MITF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MITF Gene

Variant ID Type Subtype PubMed ID
esv2312935 CNV deletion 18987734
esv2491017 CNV deletion 19546169
esv25567 CNV loss 19812545
esv2567159 CNV deletion 19546169
esv2656588 CNV deletion 23128226
esv2725391 CNV deletion 23290073
esv2725392 CNV deletion 23290073
esv2725393 CNV deletion 23290073
esv2725394 CNV deletion 23290073
esv2725395 CNV deletion 23290073
esv29670 CNV loss 19812545
esv3562043 CNV deletion 23714750
esv3568844 CNV loss 25503493
esv3596505 CNV loss 21293372
esv3596506 CNV loss 21293372
esv5323 CNV loss 18987735
esv7835 CNV loss 19470904
nsv1110410 CNV duplication 24896259
nsv1111245 CNV tandem duplication 24896259
nsv1130797 CNV deletion 24896259
nsv1139123 CNV deletion 24896259
nsv1148008 CNV insertion 26484159
nsv237409 CNV insertion 16902084
nsv477242 CNV novel sequence insertion 20440878
nsv834723 CNV gain 17160897
nsv956292 CNV deletion 24416366

Variation tolerance for MITF Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.56; 30.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MITF Gene

Human Gene Mutation Database (HGMD)
MITF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MITF
Leiden Open Variation Database (LOVD)
MITF

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MITF Gene

Disorders for MITF Gene

MalaCards: The human disease database

(86) MalaCards diseases for MITF Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
tietz albinism-deafness syndrome
  • tads
melanoma, cutaneous malignant 8
  • melanoma, cutaneous malignant, susceptibility to, 8
waardenburg syndrome, type 2a
  • ws2a
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
  • commad
heterochromia iridis
  • asymmetry in the pigmentation of the irides
- elite association - COSMIC cancer census association via MalaCards
Search MITF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MITF_HUMAN
  • Waardenburg syndrome 2A (WS2A) [MIM:193510]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. {ECO:0000269 PubMed:28236341, ECO:0000269 PubMed:8589691}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) [MIM:103470]: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis. {ECO:0000269 PubMed:9647758}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Tietz albinism-deafness syndrome (TADS) [MIM:103500]: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness. {ECO:0000269 PubMed:10851256}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:22012259, ECO:0000269 PubMed:22080950}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306]: An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis. {ECO:0000269 PubMed:27889061}. Note=The disease is caused by variants affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome. {ECO:0000269 PubMed:27889061}.
  • Note=Variations affecting this gene are associated with susceptibility to pheochromocytomas and paragangliomas, rare neural crest-derived tumors with an approximate incidence of 1:300,000/year. {ECO:0000269 PubMed:27680874}.

Additional Disease Information for MITF

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for MITF Gene

Publications for MITF Gene

  1. The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma. (PMID: 27680874) Castro-Vega LJ … Gimenez-Roqueplo AP (The Journal of clinical endocrinology and metabolism 2016) 3 4 72
  2. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (PMID: 27889061) George A … Brooks BP (American journal of human genetics 2016) 3 4 72
  3. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. (PMID: 22080950) Yokoyama S … Brown KM (Nature 2011) 3 4 72
  4. A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. (PMID: 22012259) Bertolotto C … Bressac-de Paillerets B (Nature 2011) 3 4 72
  5. Review and update of mutations causing Waardenburg syndrome. (PMID: 20127975) Pingault V … Bondurand N (Human mutation 2010) 3 22 72

Products for MITF Gene

  • Addgene plasmids for MITF

Sources for MITF Gene