Tissue expression of MITF - Summary - The Human Protein Atlas

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MITF

TISSUE

SUBCELL

CELL LINE

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN ANTIBODY/ANTIGEN


Dictionary

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

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RNA tissue category

HPA:	Expressed in all
GTEx:	Mixed

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression mainly in melanocytes.

ANTIBODY RELIABILITY ? »
Data reliability description Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based annotation, indicated by "Pending RNA-based expert annotation", when applicable. Data reliability Data reliability score (score description), divided into supportive (premium) or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Data reliability description	Pending RNA-based expert annotation.
Data reliability	Supportive based on 2 antibodies. HPA003259 , CAB002578
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Lateral ventricle

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

N/A

Prostate

Seminal vesicle

N/A

Female tissues

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

PROTEIN EXPRESSION OVERVIEW

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Organ

Expression

RNA EXPRESSION OVERVIEW

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HPA dataset

RNA tissue category:

Expressed in all

Organ

Expression

GTEx dataset

RNA tissue category:

Mixed

Organ

Expression

GENE INFORMATION ? »
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 78.38)
Entrez gene	4286
UniProt	O75030 (UniProt - Evidence at protein level)
neXtProt	NX_O75030
Antibodypedia	MITF antibodies

PROTEIN BROWSER

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ENST00000314557		ENST00000314589		ENST00000328528		ENST00000352241		ENST00000394348		ENST00000394351		ENST00000429090		ENST00000433517		ENST00000448226		ENST00000451708		ENST00000457080		ENST00000472437		ENST00000531774

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)
MITF-001	ENSP00000295600 ENST00000352241	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [sequence-specific DNA binding transcription factor activity] GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] 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: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]	520	58.2	No
MITF-002	ENSP00000391276 ENST00000457080	Q8WYR3 Show all » « Hide Q8WYR3 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000391276}; Microphthalmia-associated transcription factor isoform {ECO:0000313\|EMBL:BAB83926.1}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		117	13.2	No
MITF-003	ENSP00000398639 ENST00000451708	C9JBI8 Show all » « Hide C9JBI8 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000398639} C9K0S7 [Target identity:19%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0046983 [protein dimerization activity]	361	40.8	No
MITF-004	ENSP00000377880 ENST00000394351	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	419	46.9	No
MITF-005	ENSP00000324246 ENST00000314557	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	413	46.3	No
MITF-006	ENSP00000481286 ENST00000394348		Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		91	10.4	No
MITF-007	ENSP00000391803 ENST00000448226	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	526	58.8	No
MITF-009	ENSP00000411389 ENST00000433517	C9J845 Show all » « Hide C9J845 [Target identity:100%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000411389} C9K0S7 [Target identity:44%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		157	18.1	No
MITF-012	ENSP00000407620 ENST00000429090	C9K0S7 Show all » « Hide C9K0S7 [Target identity:98%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations Protein evidence (Ezkurdia et al 2014)		71	8.3	No
MITF-014	ENSP00000418845 ENST00000472437	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:14%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	468	52.5	No
MITF-015	ENSP00000324443 ENST00000314589	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	504	56.4	No
MITF-016	ENSP00000435909 ENST00000531774	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	357	40.4	No
MITF-201	ENSP00000327867 ENST00000328528	O75030 Show all » « Hide O75030 [Direct mapping] Microphthalmia-associated transcription factor Q8WYR3 [Target identity:22%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000391276}; Microphthalmia-associated transcription factor isoform {ECO:0000313\|EMBL:BAB83926.1} C9K0S7 [Target identity:13%; Query identity:100%] Microphthalmia-associated transcription factor {ECO:0000313\|Ensembl:ENSP00000407620}	Show » « Hide 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 » « Hide 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 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] GO:0001227 [RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006355 [regulation of transcription, DNA-templated] GO:0006461 [protein complex assembly] 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]	519	58	No

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.

Protein class

Predicted localization

Number of transcripts

RNA tissue category

Protein evidence

Protein localization

Data reliability description

Data reliability

RNA expression (FPKM)

Protein expression (score)

HPA dataset

RNA tissue category HPA

GTEx dataset

RNA tissue category GTEx