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GENE AND PROTEIN SUMMARY

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Gene name

MITF

Description

microphthalmia-associated transcription factor

Protein class

Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Transcription factors

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

14 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

Golgi apparatus 

Staining summary

Staining of Golgi apparatus and cytoplasm in A-431. Granular staining of cytoplasm in U-2 OS.

Reliability (Single)

Antibodies in assay

HPA003259
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Nuclear expression mainly in melanocytes.

Tissue specificity

Expressed in 15 out of 77 cell types

Reliability (APE)

High

Antibodies in assay

CAB002578, HPA003259
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 3
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 11
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 14% of the cancers

Antibodies in assay

CAB002578, HPA003259
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB002578

HPA003259

HPA003259

A-431 Skin Medium
Moderate
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Low
HeLa Cervix Medium
Hep-G2 Liver Low
MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
Weak
U-251 MG Brain Low

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB002578 mAb
HPA003259 pAb