PAX6

GENERAL INFORMATION

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Gene name

PAX6

Gene description

Paired box 6

Protein class

Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

15
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (cerebral cortex, stomach)
GTEx:Group enriched (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Distinct nuclear expression in cerebellar granular layer, islets of Langerhans and subsets of endocrine cells in gastrointestinal tract.

ANTIBODY RELIABILITY

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Data reliability
description

Presumed off target binding observed and disregarded. External RNA characterization data supports antibody staining.

Data reliability

Supportive based on 2 antibodies.
HPA030775 , CAB034143
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (cerebral cortex, stomach)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum)

Organ

Expression



GENE INFORMATION

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Gene name

PAX6 (HGNC Symbol)

Synonyms

AN, AN2, D11S812E, WAGR

Description

Paired box 6 (HGNC Symbol)

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]

Chromosome

11

Cytoband

p13

Chromosome location (bp)

31784792 - 31817961

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000007372 (version 78.38)

Entrez gene

5080

UniProt

P26367 (UniProt - Evidence at protein level)

neXtProt

NX_P26367

Antibodypedia

PAX6 antibodies


PROTEIN BROWSER

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ENST00000241001
 
ENST00000379107
 
ENST00000379109
 
ENST00000379111
 
ENST00000379115
 
ENST00000379123
 
ENST00000379129
 
ENST00000379132
 
ENST00000419022
 
ENST00000423822
 
ENST00000438681
 
ENST00000455099
 
ENST00000524853
 
ENST00000525535
 
ENST00000606377
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAX6-001 ENSP00000368410
ENST00000379115
P26367
Show all »
Show » Show » 436 48.2 No 0
PAX6-002 ENSP00000241001
ENST00000241001
P26367
Show all »
Show » Show » 422 46.7 No 0
PAX6-003 ENSP00000368418
ENST00000379123
P26367
Show all »
Show » Show » 422 46.7 No 0
PAX6-004 ENSP00000368403
ENST00000379109
P26367
Show all »
Show » Show » 422 46.7 No 0
PAX6-005 ENSP00000368406
ENST00000379111
P26367
Show all »
Show » Show » 422 46.7 No 0
PAX6-008 ENSP00000368427
ENST00000379132
P26367
Show all »
Show » Show » 422 46.7 No 0
PAX6-009 ENSP00000368424
ENST00000379129
P26367
Show all »
Show » Show » 436 48.2 No 0
PAX6-011 ENSP00000368401
ENST00000379107
P26367
Show all »
Show » Show » 436 48.2 No 0
PAX6-012 ENSP00000388132
ENST00000423822
B1B1I9
Show all »
Show » Show » 62 6.7 No 0
PAX6-013 ENSP00000404356
ENST00000438681
B1B1I8
Show all »
Show » Show » 39 4.2 No 0
PAX6-016 ENSP00000397384
ENST00000455099
B1B1J0
Show all »
Show » Show » 124 13.4 No 0
PAX6-020 ENSP00000436365
ENST00000525535
Show » 2 0.3 No 0
PAX6-021 ENSP00000431585
ENST00000524853
E9PKM0
Show all »
Show » Show » 58 6.1 No 0
PAX6-201 ENSP00000404100
ENST00000419022
P26367
Show all »
Show » Show » 436 48.2 No 0
PAX6-202 ENSP00000480026
ENST00000606377
P26367
Show all »
Show » Show » 436 48.2 No 0