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GENE AND PROTEIN SUMMARY

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Gene name

PAX6

Description

paired box 6

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transcription factors

Protein evidence

High

Entrez gene summary

This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

25 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Cytoplasm 

Staining summary

Staining of nucleus in all three cell lines with additional staining of cytoplasm in U-2 OS.

Reliability (Single)

Antibodies in assay

HPA030775
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective nuclear expression in respiratory epithelia, pancreatic islets, granular layer of cerebellum and a subset of cells in the gastrointestinal tract.

Tissue specificity

Expressed in 19 out of 83 cell types

Reliability (APE)

High

Antibodies in assay

HPA030775, CAB034143
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 16% of the cancers

Antibodies in assay

HPA030775, CAB034143
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA030775

A-431 Skin Low

-

Moderate
A-549 Lung Low

-

CACO-2 Colon Low

-

HEK 293 Embryonal kidney High

-

HeLa Cervix Medium

-

Hep-G2 Liver Medium

-

MCF-7 Pleural effusion Low

-

PC-3 Bone marrow Medium

-

RT-4 Urinary bladder Low

-

U-2 OS Bone Low

-

Weak
U-251 MG Brain Medium

-

Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA030775 pAb
CAB034143 mAb