Expression of MITF in cancer - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene nameⁱ Gene name according to HGNC.	MITF
Gene descriptionⁱ Gene description according to HGNC.	Microphthalmia-associated transcription factor
Protein classⁱ Protein class the gene product belongs to according to selected gene lists. List of protein classes.	Cancer-related genes Disease related genes Predicted intracellular proteins Transcription factors
Predicted localizationⁱ Protein localization predicted from several bioinformatic algorithms. Read more	Intracellular
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	13
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

TCGA (cancer tissue):	Group enriched (melanoma, renal cancer)
HPA (cell line):	Cell line enhanced (HMC-1, SK-MEL-30)
HPA (normal tissue):	Tissue enhanced (cervix, uterine, endometrium)

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

Nuclear expression mainly in melanocytes.

ANTIBODY IHC RELIABILITY
Data reliability descriptionⁱ Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.	External characterization data supports antibody staining.
Reliability scoreⁱ Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data. Read more	Supported based on 2 antibodies. HPA003259 , CAB002578
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PROGNOSTIC SUMMARYⁱ Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEWⁱ

TCGA datasetⁱ
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

Read more

RNA cancer category: Group enriched (melanoma, renal cancer)

PROTEIN EXPRESSIONⁱ

STAINING SUMMARYⁱ

HPA003259	CAB002578

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	MITF (HGNC Symbol)
Synonyms	bHLHe32, MI, WS2, WS2A
Description	Microphthalmia-associated transcription factor (HGNC Symbol)
Entrez gene summary	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]
Chromosome	3
Cytoband	p13
Chromosome location (bp)	69739435 - 69968337
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000187098 (version 83.38)
Entrez gene	4286
UniProt	O75030 (UniProt - Evidence at protein level)
neXtProt	NX_O75030
Antibodypedia	MITF antibodies

PROTEIN BROWSERⁱ

MITF-001	MITF-002	MITF-003	MITF-004	MITF-005	MITF-006	MITF-007	MITF-009	MITF-012	MITF-014	MITF-015	MITF-016	MITF-201

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MITF-001 ENSP00000295600 ENST00000352241	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010468 [regulation of gene expression] GO:0010628 [positive regulation of gene expression] GO:0016055 [Wnt signaling pathway] GO:0030154 [cell differentiation] GO:0030316 [osteoclast differentiation] GO:0030318 [melanocyte differentiation] GO:0042127 [regulation of cell proliferation] GO:0043010 [camera-type eye development] GO:0043066 [negative regulation of apoptotic process] GO:0043234 [protein complex] GO:0043473 [pigmentation] GO:0044336 [canonical Wnt signaling pathway involved in negative regulation of apoptotic process] GO:0045165 [cell fate commitment] GO:0045670 [regulation of osteoclast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046849 [bone remodeling] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	520 aa 58.2 kDa	No	0
MITF-002 ENSP00000391276 ENST00000457080	Q8WYR3 [Direct mapping] Microphthalmia-associated transcription factor; Microphthalmia-associated transcription factor isoform Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0030318 [melanocyte differentiation] Show all	117 aa 13.2 kDa	No	0
MITF-003 ENSP00000398639 ENST00000451708	C9JBI8 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0030318 [melanocyte differentiation] GO:0046983 [protein dimerization activity] Show all	361 aa 40.8 kDa	No	0
MITF-004 ENSP00000377880 ENST00000394351	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	419 aa 46.9 kDa	No	0
MITF-005 ENSP00000324246 ENST00000314557	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	413 aa 46.3 kDa	No	0
MITF-006 ENSP00000481286 ENST00000394348	A0A087WXU1 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0030318 [melanocyte differentiation] Show all	91 aa 10.4 kDa	No	0
MITF-007 ENSP00000391803 ENST00000448226	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	526 aa 58.8 kDa	No	0
MITF-009 ENSP00000411389 ENST00000433517	C9J845 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0030318 [melanocyte differentiation] Show all	157 aa 18.1 kDa	No	0
MITF-012 ENSP00000407620 ENST00000429090	C9K0S7 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0030318 [melanocyte differentiation] Show all	71 aa 8.3 kDa	No	0
MITF-014 ENSP00000418845 ENST00000472437	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	468 aa 52.5 kDa	No	0
MITF-015 ENSP00000324443 ENST00000314589	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	504 aa 56.4 kDa	No	0
MITF-016 ENSP00000435909 ENST00000531774	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	357 aa 40.4 kDa	No	0
MITF-201 ENSP00000327867 ENST00000328528	O75030 [Direct mapping] Microphthalmia-associated transcription factor Show all	Predicted intracellular proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001227 [transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006461 [protein complex assembly] GO:0010628 [positive regulation of gene expression] GO:0030318 [melanocyte differentiation] GO:0043234 [protein complex] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:2000144 [positive regulation of DNA-templated transcription, initiation] GO:2001141 [regulation of RNA biosynthetic process] Show all	519 aa 58 kDa	No	0