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Aliases for MITF Gene

Aliases for MITF Gene

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

  • This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also 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. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for MITF Gene

MITF (Microphthalmia-Associated 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 IL6-mediated signaling events and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is TFEB.

UniProtKB/Swiss-Prot for MITF Gene

  • Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to 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 , fRNAdb sequence ontologies and piRNA Summary for MITF Gene

Genomics for MITF Gene

Regulatory Elements for MITF Gene

Promoters for MITF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MITF on UCSC Golden Path with GeneCards custom track

Genomic Location for MITF Gene

Chromosome:
3
Start:
69,739,435 bp from pter
End:
69,968,337 bp from pter
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:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC. Interacts with KARS. Identified in a complex with HINT1 and CTNNB1.

    Three dimensional structures from OCA and Proteopedia for MITF Gene

    Alternative splice isoforms for MITF Gene

neXtProt entry for MITF Gene

Proteomics data for MITF Gene at MOPED

Post-translational modifications for MITF Gene

  • Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring 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.
  • 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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MITF (MITF)

No data available for DME Specific Peptides for MITF Gene

Domains & Families for MITF Gene

Gene Families for MITF Gene

Protein Domains for MITF Gene

Suggested Antigen Peptide Sequences for MITF Gene

Graphical View of Domain Structure for InterPro Entry

O75030

UniProtKB/Swiss-Prot:

MITF_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the MiT/TFE family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
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

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
UniProtKB/Swiss-Prot Function:
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to 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 Ontology (GO) - Molecular Function for MITF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 14737107
GO:0005515 protein binding IPI 20530484
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:
Targeted motifs for MITF Gene
HOMER Transcription Factor Regulatory Elements motif MITF
  • Consensus sequence: RTCATGTGAC Submotif: canonical Cell Type: MastCells GEO ID: GSE48085

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MITF Gene COMPARTMENTS Subcellular localization image for MITF gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components 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

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 from RNA polymerase II promoter IMP 24769727
GO:0006355 regulation of transcription, DNA-templated IEA,NAS 9647758
GO:0006366 transcription from RNA polymerase II promoter IDA 14737107
GO:0006461 protein complex assembly IDA 20530484
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MITF: view

Drugs & Compounds for MITF Gene

(7) Drugs for MITF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) 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

Unigene Clusters for MITF Gene

Microphthalmia-associated transcription factor:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MITF

Expression for MITF Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MITF Gene



SOURCE GeneReport for Unigene cluster for MITF Gene Hs.166017

mRNA Expression by UniProt/SwissProt for MITF Gene

O75030-MITF_HUMAN
Tissue specificity: Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines.
genes like me logo Genes that share expression patterns with MITF: view

Protein tissue co-expression partners for MITF Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
MITF 35
  • 99.55 (n)
  • 99.62 (a)
cow
(Bos Taurus)
Mammalia MITF 36
  • 96 (a)
OneToOne
MITF 35
  • 93.05 (n)
  • 97.02 (a)
dog
(Canis familiaris)
Mammalia MITF 35
  • 93.55 (n)
  • 97.27 (a)
MITF 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mitf 36
  • 93 (a)
OneToOne
Mitf 16
Mitf 35
  • 89.94 (n)
  • 94.42 (a)
oppossum
(Monodelphis domestica)
Mammalia MITF 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MITF 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mitf 35
  • 89.49 (n)
  • 94.04 (a)
chicken
(Gallus gallus)
Aves MITF 35
  • 83.83 (n)
  • 91.88 (a)
MITF 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MITF 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mitfa-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mitf 35
  • 77.14 (n)
  • 84.62 (a)
zebrafish
(Danio rerio)
Actinopterygii mitfa 36
  • 62 (a)
OneToMany
mitfb 36
  • 66 (a)
OneToMany
mitfb 35
  • 68.99 (n)
  • 69.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mitf 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-30 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for MITF:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MITF Gene

Paralogs for MITF Gene

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

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

Variants for MITF Gene

Sequence variations from dbSNP and Humsavar for MITF Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_010297 -
VAR_010298 Tietz syndrome (TIETZS)
VAR_010300 Waardenburg syndrome 2A (WS2A)
VAR_010301 Waardenburg syndrome 2A (WS2A)
VAR_010302 Waardenburg syndrome 2A (WS2A)

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

Variant ID Type Subtype PubMed ID
nsv834723 CNV Gain 17160897
nsv237409 CNV Insertion 16902084
esv29670 CNV Loss 19812545
esv25567 CNV Loss 19812545
esv2725391 CNV Deletion 23290073
esv2725392 CNV Deletion 23290073
esv2491017 CNV Deletion 19546169
esv2725393 CNV Deletion 23290073
esv2312935 CNV Deletion 18987734
esv5323 CNV Deletion 18987735
esv7835 CNV Loss 19470904
esv2656588 CNV Deletion 23128226
esv2567159 CNV Deletion 19546169
esv2725394 CNV Deletion 23290073
esv2725395 CNV Deletion 23290073

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)

Relevant External Links for MITF Gene

HapMap Linkage Disequilibrium report
MITF
Human Gene Mutation Database (HGMD)
MITF

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

Disorders for MITF Gene

MalaCards: The human disease database

(51) MalaCards diseases for MITF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tietz albinism-deafness syndrome
  • tietze's syndrome
melanoma, cutaneous malignant 8
  • melanoma, cutaneous malignant, susceptibility to, 8
waardenburg syndrome, type 2a
  • waardenburg syndrome type 2a
waardenburg syndrome/ocular albinism, digenic
  • waardenburg syndrome/albinism, digenic
albinism, oculocutaneous, type ia
  • oculocutaneous albinism type 1
- 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:8589691}. Note=The disease is caused by mutations 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 mutations affecting the gene represented in this entry.
  • Tietz syndrome (TIETZS) [MIM:103500]: Autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete. {ECO:0000269 PubMed:10851256}. Note=The disease is caused by mutations 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 variations affecting the gene represented in this entry.

Relevant External Links for MITF

Genetic Association Database (GAD)
MITF
Human Genome Epidemiology (HuGE) Navigator
MITF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MITF
genes like me logo Genes that share disorders with MITF: view

No data available for Genatlas for MITF Gene

Publications for MITF Gene

  1. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. (PMID: 8069297) Tachibana M. … Arnheiter H. (Hum. Mol. Genet. 1994) 2 3 4 67
  2. The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. (PMID: 20482673) Lu S. … Carlson J.A. (J. Cutan. Pathol. 2010) 3 23
  3. ERK-regulated differential expression of the Mitf 6a/b splicing isoforms in melanoma. (PMID: 19895547) Primot A. … Galibert M.D. (Pigment Cell Melanoma Res 2010) 3 23
  4. The 19S proteasomal lid subunit POH1 enhances the transcriptional activation by Mitf in osteoclasts. (PMID: 20058232) Schwarz T. … Mansky K.C. (J. Cell. Biochem. 2010) 3 23
  5. SWI/SNF chromatin remodeling complex is critical for the expression of microphthalmia-associated transcription factor in melanoma cells. (PMID: 20083088) Vachtenheim J. … BorovanskA1 J. (Biochem. Biophys. Res. Commun. 2010) 3 23

Products for MITF Gene

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