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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MITF Gene

protein-coding GIFtS: 67
GCID: GC03P069788

microphthalmia-associated transcription factor

(Previous names: Waardenburg syndrome, type 2A )
(Previous symbols: WS2A, WS2)

Explore 68 diseases affiliated with
MITF via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Microphthalmia-Associated Transcription Factor¹ ²		Class E Basic Helix-Loop-Helix Protein 32² ³
BHLHe32¹		Waardenburg Syndrome, Type 2A¹
WS2A¹ ² ⁵		CMM8²
MI¹ ²		BHLHE32³
WS2¹ ²

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MITF:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022459.15

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for MITF

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Subcellular location: Nucleus

Secondary accessions: D3K197 Q14841 Q9P2V0 Q9P2V1 Q9P2V2 Q9P2Y8

Alternative splicing: 11 isoforms: O75030-1 O75030-2 O75030-3 O75030-4 O75030-5 O75030-6 O75030-7 O75030-8

O75030-9 O75030-10 O75030-11

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75030

MITF Protein expression data from MOPED and PaxDb: About this image

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

Human Recombinant Protein Products:

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	Novus Biologicals MITF Protein Novus Biologicals MITF Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MITF

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	9647758
GO:0043234	protein complex	IDA	--

MITF for ontologies About GeneDecksing

MITF Antibody Products:

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Assay Products for MITF:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MITF
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MITF

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MITF for domains About GeneDecksing

3 InterPro domains/families:

IPR024097 bHLH_ZIP_TF

IPR011598 HLH_dom

IPR021802 bHLH_ZIP_TF_MiT/TFE

Graphical View of Domain Structure for InterPro Entry O75030

ProtoNet protein and cluster: O75030

1 Blocks protein family: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

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		OriGene 3'-UTR Clone (see all 6): MITF Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MITF
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MITF

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IDA	--
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IEA	--

MITF for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for MITF: Mitf^tm3.1Arnh Mitf^tm3Arnh
     15/18 MGI mutant phenotypes (inferred from 39 alleles) (MGI details for Mitf) (see all 18):

behavior/neurological	craniofacial	endocrine/exocrine gland	growth/size	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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling events mediated by Stem cell factor receptor (c-Kit)

Signaling events mediated by Stem cell factor receptor (c-Kit)

1.00

Kit Receptor Signaling Pathway

0.37

BAFF in B-Cell Signaling

RANK Signaling in Osteoclasts

0.45

RANKL/RANK Signaling Pathway

0.24

Selected targets of CREB1

Selected targets of CREB1

1.00

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Melanocyte Development and Pigmentation

Melanocyte Development and Pigmentation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MITF

Selected targets of CREB1

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MITF

	Melanocyte Development and Pigmentation
	RANK Signaling in Osteoclasts

5/8 BioSystems Pathways for MITF (see all 8)

	Neural Crest Differentiation
	Kit Receptor Signaling Pathway
	RANKL/RANK Signaling Pathway
	Signaling events mediated by Stem cell factor receptor (c-Kit)
	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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MITF

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

5/47 Interacting proteins for MITF (O75030^{2, 3} ENSP00000295600⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-8007567 I2D: score=1 STRING: ENSP00000309503
SPI1	P17947³, ENSP00000227163⁴	I2D: score=2 STRING: ENSP00000227163
UBE2I	P63279³, ENSP00000324897⁴	I2D: score=2 STRING: ENSP00000324897
GSK3B	P49841³, ENSP00000324806⁴	I2D: score=1 STRING: ENSP00000324806
MAPK1	P28482³, ENSP00000215832⁴	I2D: score=1 STRING: ENSP00000215832

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	NAS	9647758
GO:0006461	protein complex assembly	IDA	--
GO:0007275	multicellular organismal development	--	--
GO:0010468	regulation of gene expression	--	--
GO:0016055	Wnt receptor signaling pathway	IEA	--

MITF for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MITF for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MITF
10/17 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about MITF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MITF

Additional cDNA 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

24/177 AceView cDNA sequences (see all 177):

NM_006722 AI002457 BQ437865 AI745605 AB006988 AB006909 AU118267 CA390830

BU632764 NM_198177 NM_000248 AI202587 N66177 BC012503 AB061771 AA652241

NM_198159 BM991007 AA778167 AU118980 NM_198178 BC026961 BM800230 BF514883

GeneLoc Exon Structure

5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MITF expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTAAGCAAC

About this image

MITF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Eye

Neuroblastic Layer

Early Retinal Progenitor Cells

Retina

Eye

Neuroblastic Layer

Late Retinal Progenitor Cells

Retina

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/14 LifeMap Cells (see all 14)

Name

Category

Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Optic cup structures (Generation of strati...)

Neural retina aggregates (Generation of strati...)

Optic cup (Generation of retina...)

Pigmented epithelium cell monolayers (Direct differentiati...)

Pigmented epithelium cell clusters (Direct differentiati...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal progenitor spheres (Generation of photor...)

Retinal pigment epithelium-like cells (Generation of photor...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal Pigmented Epithelium

See MITF Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MITF

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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MITF gene from 7/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mitf^{1 , 5}	microphthalmia-associated transcription factor^{1, 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	--	86(a)	1 ↔ 1	2(181607272-181633021)
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	17(a)	1 → many	4(1219484-1228244)
worm (Caenorhabditis elegans)	Secernentea	hlh-30⁶	Helix Loop Helix family member (hlh-30)	20(a)	1 → many	IV(4015480-4028123)

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)
About This Section

Paralogs for MITF gene

TFE3² TFEC² TFEB²

6 SIMAP similar genes for MITF using alignment to 7 protein entries: MITF_HUMAN (see all proteins):

MITF-C Mitf TFEC TFE3 AlphaTFEB TFEB

MITF for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893745^1,2	C	pathogenic	70000411(+)	`CACAAC/GCTGAG`	14	N K	mis¹		0	--	--	--	--
rs104893746^1,2	C	pathogenic	70004860(+)	`TTGAAC/TGAAGA`	14	R *	stg¹		0	--	--	--	--
rs104893744^1,2	C	pathogenic	70007710(+)	`AAGCAC/TCCGTG`	14	P S	mis¹		0	--	--	--	--
rs104893747^1,2	C	pathogenic	70013280(+)	`GACTTT/CCCCTT`	14	/P /S	mis¹		1		NA	4550
rs57953945^1,2	C,	--	69786473(+)	`TTCCC-/TCAGAT`	1	--	us2k¹		0	--	--	--	--
rs74845300^1,2	C,F,	--	69786539(+)	`GATACA/GTACCA`	1	--	us2k¹		1		WA	118
rs139094245^1,2		--	69786694(+)	`TTCCC-/ATGTTTC TCAATGGGGATACA`	1	--	us2k¹		0	--	--	--	--
rs147055911^1,2		--	69786943(+)	`ACACGA/TTTTCT`	1	--	us2k¹		0	--	--	--	--
rs112239747^1,2		--	69786969(+)	`GCTACG/TGCAAC`	1	--	us2k¹		1		CSA	2
rs147704996^1,2		--	69787017(+)	`TATGAA/GCACAA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MITF (69788586 - 70017488 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for MITF
1 CNV: 68399
6 Indels: 46436 62065 68400 68398 98344 42656
Human Gene Mutation Database (HGMD): MITF

Locus Specific Mutation Databases (LSDB): MITF

2 SABiosciences Cancer Mutation PCR Assays for MITF:

Cosmic Id	AA Change
141704	p.E87K
141705	p.E87G

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MITF

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(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.)
About This Section

MITF for disorders           About GeneDecksing

OMIM gene information: 156845
OMIM disorders: 193510  103470  103500
UniProtKB/Swiss-Prot: MITF_HUMAN, O75030

Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited

disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable

expression and penetrance

Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is

an ocular albinism with sensorineural deafness

Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. It is an autosomal dominant disorder

characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. Penetrance is complete

Defects in MITF are a cause of susceptibility to cutaneous malignant melanoma type 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

20/68 diseases for MITF (see all 68): About MalaCards

waardenburg syndrome type 2 waardenburg's syndrome waardenburg syndrome type 2a tietz syndrome

tietze's syndrome waardenburg syndrome/ocular albinism, digenic waardenburg syndrome/ocular albinism shah-waardenburg syndrome

ocular albinism microphthalmia albinism-deafness syndrome lentigo maligna melanoma

superficial spreading melanoma ocular albinism with sensorineural deafness albinism perivascular epithelioid cell tumor

hearing loss vitelliform macular dystrophy uterine inversion retinitis

10 diseases from the University of Copenhagen DISEASES database for MITF:

Microphthalmia Waardenburg's syndrome Melanoma Clear cell sarcoma

Vitiligo Perivascular epithelioid cell tumor Sensorineural hearing loss Osteopetrosis

Angiomyolipoma Piebaldism

10/41 Novoseek 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)
About This Section

PubMed articles for MITF gene, integrated from 9 sources (see all 409):
(articles sorted by number of sources associating them with MITF)

Utopia: connect your pdf to the dynamic
world of online information

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. (1994)
Sumoylation of MITF and its related family members TFE3 and TFEB. (PubMed id 15507434)^{1, 2, 9} Miller A.J.... Fisher D.E. (2005)
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. (PubMed id 10851256)^{1, 2, 9} Smith S.D.... Hoover D. (2000)
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. (1999)
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. (1998)
The tumor suppressor HINT1 regulates MITF and b-cateni n transcriptional activity in melanoma cells. (PubMed id 22647378)^{1, 2} Genovese G....Sgambato A. (2012)
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. (PubMed id 22080950)^{1, 2} Yokoyama S....Brown K.M. (2011)
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. (PubMed id 22012259)^{1, 2} Bertolotto C....Bressac-de Paillerets B. (2011)
Mitf-Mdel, a novel melanocyte/melanoma-specific isofo rm of microphthalmia-associated transcription factor-M, as a candidate biomarke r for melanoma. (PubMed id 20163701)^{1, 2} Wang Y....Khong H.T. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MITF	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MITF

Intellectual Property for MITF gene
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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

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microphthalmia-associated transcription factor

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Osteopetrosis
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MICROPHTHALMIA
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Hearing Loss Sensorineural
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MITF Gene

microphthalmia-associated transcription factor

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