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MITF Gene

protein-coding   GIFtS: 66
GCID: GC03P069788

Microphthalmia-Associated Transcription Factor

(Previous names: Waardenburg syndrome, type 2A)
(Previous symbols: WS2A, WS2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Microphthalmia-Associated Transcription Factor1 2     CMM82 5
WS2A1 2 5     Homolog Of Mouse Microphthalmia1
WS21 2     Waardenburg Syndrome, Type 2A1
Class E Basic Helix-Loop-Helix Protein 322 3     MI2
bHLHe322 3     BHLHE323

External Ids:    HGNC: 71051   Entrez Gene: 42862   Ensembl: ENSG000001870987   OMIM: 1568455   UniProtKB: O750303   

Export aliases for MITF gene to outside databases

Previous GC identifers: GC03P068328 GC03P069162 GC03P069612 GC03P069721 GC03P069871


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 tietze's syndrome, and melanoma, cutaneous malignant 8. GO annotations related to this gene include chromatin binding and RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TFE3.

UniProtKB/Swiss-Prot: MITF_HUMAN, O75030
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 Wiki entry for MITF (Microphthalmia-associated transcription factor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MITF gene promoter:
         CREB   p300   deltaCREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MITF promoter sequence
   Search Chromatin IP Primers for MITF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MITF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p14.2-p14.1   Ensembl cytogenetic band:  3p14.1   HGNC cytogenetic band: 3p14.1-p12.3

MITF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MITF gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P069788:  view genomic region     (about GC identifiers)

Start:
69,788,586 bp from pter      End:
70,017,488 bp from pter
Size:
228,903 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MITF_HUMAN, O75030 (See protein sequence)
Recommended Name: Microphthalmia-associated transcription factor  
Size: 526 amino acids; 58795 Da
Subunit: 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
Secondary accessions: B4DJL2 D3K197 E9PFN0 Q14841 Q9P2V0 Q9P2V1 Q9P2V2 Q9P2Y8
Alternative splicing: 12 isoforms:  O75030-1   O75030-2   O75030-3   O75030-4   O75030-5   O75030-6   O75030-7   O75030-8   
O75030-9   O75030-10   O75030-11   O75030-12   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MITF: NX_O75030

Explore proteomics data for MITF at MOPED

Post-translational modifications: 

  • 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 proteasome1
  • Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome.
    Deubiquitinated by USP13, preventing its degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MITF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_000239.1  NP_001171896.1  NP_001171897.1  NP_006713.1  NP_937801.1  NP_937802.1  NP_937820.1  NP_937821.2  

    ENSEMBL proteins: 
     ENSP00000295600   ENSP00000391803   ENSP00000407620   ENSP00000411389   ENSP00000418845  
     ENSP00000391276   ENSP00000398639   ENSP00000324443   ENSP00000324246   ENSP00000377880  
     ENSP00000433487   ENSP00000435909   ENSP00000327867   ENSP00000377884  

    MITF Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MITF
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MITF
    GenScript Custom Purified and Recombinant Proteins Services for MITF
    Novus Biologicals MITF Protein
    Novus Biologicals MITF Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MITF

    MITF Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MITF
    R&D Systems Antibodies for MITF
    Cell Signaling Technology (CST) Antibodies for MITF 
    OriGene Antibodies for MITF
    OriGene Custom Antibody Services for MITF
    Novus Biologicals MITF Antibodies
    Abcam antibodies for MITF
    Cloud-Clone Corp. Antibodies for MITF
    ThermoFisher Antibody for MITF
    LSBio Antibodies in human, mouse, rat for MITF

    MITF Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MITF
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MITF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MITF
    Cloud-Clone Corp. CLIAs for MITF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    3 InterPro protein domains:
     IPR024097 bHLH_ZIP_TF
     IPR011598 bHLH_dom
     IPR021802 bHLH_ZIP_TF_MiT/TFE

    Graphical View of Domain Structure for InterPro Entry O75030

    ProtoNet protein and cluster: O75030

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: MITF_HUMAN, O75030
    Similarity: Belongs to the MiT/TFE family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    MITF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MITF_HUMAN, O75030
    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

         Genatlas biochemistry entry for MITF:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
         
    MITF for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 39 alleles(MGI details for Mitf) (see all 18):
     behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  pigmentation 

    MITF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MITF: Mitftm3.1Arnh Mitftm3Arnh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MITF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MITF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MITF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MITF

    miRNA
    Products:
        
    miRTarBase miRNAs that target MITF:
    hsa-mir-155-5p (MIRT006969), hsa-mir-98-5p (MIRT027612), hsa-mir-182-5p (MIRT001990), hsa-mir-137 (MIRT005883)

    Block miRNA regulation of human, mouse, rat MITF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MITF (see all 63):
    hsa-miR-323-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-25 hsa-miR-624* hsa-miR-218 hsa-miR-650 hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MITF
    Predesigned siRNA for gene silencing in human, mouse, rat MITF

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MITF

    Clone
    Products:
         
    OriGene clones in human, mouse for MITF (see all 46)
    OriGene ORF clones in mouse, rat for MITF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): MITF (NM_006722)
    Sino Biological Human cDNA Clone for MITF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MITF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MITF

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MITF
    Browse ESI BIO Cell Lines and PureStem Progenitors for MITF 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MITF


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MITF_HUMAN, O75030: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10578055
    GO:0043234protein complex IDA--

    MITF for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MITF About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    Kit Receptor Signaling Pathway0.37
    2RANK Signaling in Osteoclasts
    RANK Signaling in Osteoclasts0.45
    RANKL/RANK Signaling Pathway0.31
    3Glioma
    Melanoma0.43
    4Basal cell carcinoma
    Melanogenesis0.32
    5Signaling mediated by p38-alpha and p38-beta
    Signaling mediated by p38-alpha and p38-beta

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MITF
        Melanocyte Development and Pigmentation
    RANK Signaling in Osteoclasts

    Selected BioSystems Pathways for MITF (see all 8)
        Neural Crest Differentiation
    Kit Receptor Signaling Pathway
    RANKL/RANK Signaling Pathway
    IL6-mediated signaling events
    Signaling mediated by p38-alpha and p38-beta



    4 Kegg Pathways  (Kegg details for MITF):
        Osteoclast differentiation
    Melanogenesis
    Pathways in cancer
    Melanoma


    MITF for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MITF
    Interactions:

        GeneGlobe Interaction Network for MITF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MITF (O750302, 3 ENSP000002956004) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000235068Q018603, ENSP000004050414I2D: score=2 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    ENSG00000230336Q018603I2D: score=2 
    ENSG00000233911Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated NAS10578055
    GO:0006461protein complex assembly IDA--
    GO:0010468regulation of gene expression ----
    GO:0016055Wnt signaling pathway ----
    GO:0030154cell differentiation ----

    MITF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MITF

    Selected Novoseek inferred chemical compound relationships for MITF gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopachrome 79.3 9 16466507 (1), 17460731 (1), 15892717 (1), 15729346 (1) (see all 6)
    hinokitiol 56.9 9 15089040 (4), 16781122 (3)
    kojic acid 42.3 1 15089040 (1)
    leucine 39.1 11 15118077 (1), 9499424 (1), 7969144 (1), 15050900 (1) (see all 10)
    hmba 36.7 4 10080955 (2), 11310793 (1)
    tyrosine 15.1 4 16440290 (1), 20067553 (1), 19805117 (1), 19469904 (1)
    paraffin 11.2 2 15205688 (1), 14685254 (1)
    oxygen 4.53 3 18971960 (2), 17164294 (1)
    calcium 1.68 1 16831915 (1)
    cyclic amp 1.24 2 15150091 (1), 15923629 (1)



    MITF for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MITF gene (8 alternative transcripts): 
    NM_000248.3  NM_001184967.1  NM_001184968.1  NM_006722.2  NM_198158.2  NM_198159.2  NM_198177.2  NM_198178.2  

    Unigene Cluster for MITF:

    Microphthalmia-associated transcription factor
    Hs.166017  [show with all ESTs]
    Unigene Representative Sequence: NM_198159
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352241(uc003dnz.3) ENST00000448226 ENST00000461511 ENST00000495741
    ENST00000429090 ENST00000433517 ENST00000472437 ENST00000457080(uc003doc.1)
    ENST00000451708 ENST00000314589 ENST00000314557 ENST00000394351 ENST00000478490
    ENST00000394348(uc021xal.1) ENST00000531774 ENST00000461014 ENST00000328528(uc011bgb.2 uc003doa.3 uc003dob.3 uc021xam.1 uc003doe.3 uc003dof.3)
    ENST00000394355
    miRNA
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    Block miRNA regulation of human, mouse, rat MITF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MITF (see all 63):
    hsa-miR-323-3p hsa-miR-300 hsa-miR-513a-5p hsa-miR-25 hsa-miR-624* hsa-miR-218 hsa-miR-650 hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MITF
    Predesigned siRNA for gene silencing in human, mouse, rat MITF
    Clone
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    OriGene clones in human, mouse for MITF (see all 46)
    OriGene ORF clones in mouse, rat for MITF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): MITF (NM_006722)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MITF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MITF
    Primer
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    OriGene qPCR primer pairs and template standards for MITF
    OriGene qSTAR qPCR primer pairs in human, mouse for MITF
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MITF
      QuantiTect SYBR Green Assays in human, mouse, rat MITF
      QuantiFast Probe-based Assays in human, mouse, rat MITF

    Additional mRNA sequence: 

    AB006909.1 AB006988.1 AB006989.1 AB061771.1 AK291318.1 AK296129.1 AK297858.1 AL110195.1 
    AL117653.1 AY632572.1 AY632574.1 BC011461.1 BC026961.2 BC065243.1 GU355676.1 Z29678.1 

    12 DOTS entries:

    DT.91939485  DT.215214  DT.312807  DT.92420920  DT.75169422  DT.97859231  DT.100744903  DT.100024762 
    DT.100810847  DT.91666982  DT.92420919  DT.95079047 

    Selected AceView cDNA sequences (see all 177):

    AA652241 AI002457 BQ437865 AB061771 BU167035 AI933745 AA778167 BM991007 
    NM_198159 AU118980 NM_198178 AW514786 BQ215047 AI423325 BM551478 BQ439610 
    NM_198158 CN481686 BM015638 AB006989 W03426 AL110195 AW512146 BC026961 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MITF (see all 11)    About this scheme

    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:                                                              -     -     -     -                 -                                                         

    ExUns: 20
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MITF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MITF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTAAGCAAC
    MITF Expression
    About this image


    MITF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 16 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Eye Field
     
     NULL (Sensory Organs)    fully expand to see all 8 entries
             Pigmented epithelium cell clusters
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             Melanocytes-like cells
             Human EpiDermal Melanocytes-dark (HEM-dark)   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-dark (HEM-dark)   
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    MITF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MITF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.166017

    UniProtKB/Swiss-Prot: MITF_HUMAN, O75030
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MITF gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mitf1 , 5 microphthalmia-associated transcription factor1, 5 89.94(n)1
    94.42(a)1
      6 (45.05 cM)5
    173421  NM_001113198.11  NP_001106669.11 
     978070585 
    chicken
    (Gallus gallus)
    Aves MITF1 microphthalmia-associated transcription factor 83.83(n)
    91.88(a)
      395886  NM_205029.1  NP_990360.1 
    lizard
    (Anolis carolinensis)
    Reptilia MITF6
    microphthalmia-associated transcription factor
    86(a)
    1 ↔ 1
    2(181602837-181633021)
    African clawed frog
    (Xenopus laevis)
    Amphibia mitfa-A2 microphthalmia-associated transcription factor type more 80.58(n)    AY190598.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mitfb2 microphthalmia-associated transcription factor b 79.02(n)   114833  AF362683.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mitf6
    Mitf
    21(a)
    1 → many
    4(1219484-1228244)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-306
    Protein HLH-30, isoform g
    23(a)
    1 → many
    IV(4014799-4028127) WBGene00020930


    ENSEMBL Gene Tree for MITF (if available)
    TreeFam Gene Tree for MITF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MITF gene
    TFE32  TFEC2  TFEB2  
    5 SIMAP similar genes for MITF using alignment to 6 protein entries:     MITF_HUMAN (see all proteins):
    MITF-C    TFEC    TFE3    AlphaTFEB    TFEB

    MITF for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MITF (see all 4395)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0103014
    Waardenburg syndrome 2A (WS2A)4--see VAR_0103012 N D mis40--------
    VAR_0103004
    Waardenburg syndrome 2A (WS2A)4--see VAR_0103002 S P mis40--------
    VAR_0103024
    Waardenburg syndrome 2A (WS2A)4--see VAR_0103022 S P mis40--------
    VAR_0102984
    Tietz syndrome (TIETZS)4--see VAR_0102982 N K mis40--------
    rs1048937451,2
    Cpathogenic169953779(+) CACAAC/GCTGAG 14 N K mis10--------
    rs1048937461,2
    Cpathogenic169958359(+) TTGAAC/TGAAGA 14 R * stg10--------
    rs1048937441,2
    Cpathogenic169961209(+) AAGCAC/TCCGTG 14 P S mis10--------
    rs1048937471,2
    Cpathogenic169966775(+) GACTTT/CCCCTT 14 /P /S mis11Minor allele frequency- C:0.00NA 4550
    rs579539451,2
    C--69739322(+) TTCCC-/TCAGAT 1 -- us2k10--------
    rs1390942451,2
    C--69739368(+) TTCCC-/ATGTTTC
    TCAATGGGG
    ATACA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MITF (69788586 - 70017488 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MITF (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656588CNV Deletion23128226
    esv2725395CNV Deletion23290073
    esv2312935CNV Deletion18987734
    esv2491017CNV Deletion19546169
    esv2725392CNV Deletion23290073
    esv5323CNV Deletion18987735
    esv2725393CNV Deletion23290073
    esv2567159CNV Deletion19546169
    esv2725391CNV Deletion23290073
    esv2725394CNV Deletion23290073

    Human Gene Mutation Database (HGMD): MITF
    Locus Specific Mutation Databases (LSDB): MITF

    2 Site Specific Mutation Identification with PCR Assays for MITF:
    Cosmic IdAA Change
    141704p.E87K
    141705p.E87G
    SeqTarget long-range PCR primers for resequencing MITF
    DNA2.0 Custom Variant and Variant Library Synthesis for MITF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 156845   
    OMIM disorders: 193510  103470  103500  614456  
    UniProtKB/Swiss-Prot: MITF_HUMAN, O75030
  • 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. 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. 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. 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.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for MITF (see all 65):    
    About MalaCards
    tietze's syndrome    melanoma, cutaneous malignant 8    tietz syndrome    waardenburg syndrome type 2a
    renal clear cell carcinoma    waardenburg syndrome/ocular albinism, digenic    microphthalmia    gallbladder melanoma
    waardenburg's syndrome    waardenburg syndrome type 2    albinism deafness syndrome    papillary renal cell carcinoma
    lentigo maligna melanoma    uterine inversion    superficial spreading melanoma    pycnodysostosis
    ocular albinism    posterior uveal melanoma    mast cell neoplasm    piebaldism

    9 diseases from the University of Copenhagen DISEASES database for MITF:
    Microphthalmia     Waardenburg's syndrome     Melanoma     Perivascular epithelioid cell tumor
    Vitiligo     Piebaldism     Angiomyolipoma     Sensorineural hearing loss
    Osteopetrosis

    MITF for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MITF gene (see all 41)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tietz syndrome 95.2 7 10851256 (2), 18510545 (1), 9546825 (1), 10790403 (1) (see all 6)
    waardenburgs syndrome 94 38 8880147 (2), 9499424 (2), 8782819 (2), 10536986 (2) (see all 28)
    microphthalmia 93.1 71 14717844 (2), 18028952 (2), 10536982 (1), 11145252 (1) (see all 63)
    melanoma 81.3 324 19659611 (8), 11145252 (7), 18451137 (6), 11016620 (5) (see all 95)
    shah-waardenburg syndrome 75 1 17999358 (1)
    sarcoma clear cell 71.8 6 11145252 (3), 16899407 (1), 18627530 (1), 16766266 (1)
    albinism ocular 65.6 1 15254223 (1)
    deafness sensorineural 65 3 11343641 (1), 19207931 (1)
    metastatic melanoma 64.7 21 17975146 (4), 11176069 (3), 19422606 (2), 15103749 (2) (see all 7)
    melanoma b16 62.8 6 16337607 (1), 20460767 (1), 14717844 (1), 18425380 (1)

    Genetic Association Database (GAD): MITF
    Human Genome Epidemiology (HuGE) Navigator: MITF (7 documents)

    Export disorders for MITF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MITF gene, integrated from 10 sources (see all 428):
    (articles sorted by number of sources associating them with MITF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. (PubMed id 8069297)1, 2, 3 Tachibana M.... Arnheiter H. (Hum. Mol. Genet. 1994)
    2. Frequent mutations in the MITF pathway in melanoma. (PubMed id 19422606)1, 4, 9 Cronin J.C....Samuels Y. (amp 2009)
    3. Sumoylation of MITF and its related family members TFE3 and TFEB. (PubMed id 15507434)1, 2, 9 Miller A.J.... Fisher D.E. (J. Biol. Chem. 2005)
    4. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. (PubMed id 10851256)1, 2, 9 Smith S.D.... Hoover D. (J. Med. Genet. 2000)
    5. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4, 9 Fernandez L.P....Ribas G. (Exp. Dermatol. 2009)
    6. Microphthalmia-associated transcription factor polymorphisms and association with bone mineral density of the proximal femur in postmenopausal women. (PubMed id 17464203)1, 4, 9 Koh J.M....Park E.K. (Mol. Cells 2007)
    7. Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. (PubMed id 10578055)1, 2, 9 Fuse N.... Shibahara S. (J. Biochem. 1999)
    8. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. (PubMed id 9647758)1, 2, 9 Amae S.... Shibahara S. (Biochem. Biophys. Res. Commun. 1998)
    9. The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells. (PubMed id 22647378)1, 2 Genovese G....Sgambato A. (Cell Cycle 2012)
    10. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. (PubMed id 22080950)1, 2 Yokoyama S....Brown K.M. (Nature 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4286 HGNC: 7105 AceView: MITF Ensembl:ENSG00000187098 euGenes: HUgn4286
    ECgene: MITF Kegg: 4286 H-InvDB: MITF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MITF Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MITF[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MITF gene:
    Search GeneIP for patents involving MITF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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