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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
PAX6 5080 paired box 6  11D11S812E, AN, WAGR 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
24185687   2014Cell line : Caco 2, SW480

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Tissue microarray immunohistochemistry and Western blotting,Real-time RT-PCR , Luciferase reporter assay Up-regulation-Novel target of miR-7, PAX6 may serve as a promising therapeutic target for colorectal cancer.


Gene Details



NC_000011.9 (31806340..31839509, complement)

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Gene Type protein coding
Gene Family Paired boxes, "Homeoboxes / PRD class"
Description This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]  
Chromosome 11
Location 11p13
Start 31806340  
End 31839509  
Strand -  
Gene Sequence

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Length 33170  
OMIM ID 607108   
HGNC ID HGNC:8620   
Unigene ID Hs.270303   
Ensembl ID ENSG00000007372   
PharmGKB ID PA32960   

mRNA Information


mRNA ID XM_005252865.2
Exon complement(<32710..>33170)  
mRNA Sequence

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Length 3034  



CDS Information


   
Location29..1306
CDS Sequence

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CCDS ID CCDS31451.1



Protein Information


      
Protein IDXP_005252922.1
Protein Namepaired box 6
Molecular Wt. (Da)47059
Protein Sequence

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Length 425  
Uniprot IDQ01831
Ensembl Protein ID ENSP00000285021  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation295
TPhosphorylation317
TPhosphorylation387
TPhosphorylation281
TPhosphorylation304
TPhosphorylation373
SPhosphorylation230
SPhosphorylation216

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                 
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
1045CDX22622NP_001256.2in vitro;in vivo10506141   
1739DLG13007NP_004078.2in vitro16637659   
3211HOXB1855NP_002135.2in vitro11069920   
4097MAFG3605NP_002350.1in vitro;in vivo11036080   
4286MITF1138NP_937802.1in vivo11350962   
5998RGS33720NP_652759.3in vitro16637659   
6496SIX34756NP_005404.1in vivo11069920   
6658SOX32432NP_005625.2in vitro12710953   
6908TBP2511NP_003185.1in vitro;in vivo10359315   
8655DYNLL13334NP_003737.1yeast 2-hybrid16098226   
9454HOMER37270NP_004829.3yeast 2-hybrid16098226   
10207INADL4434NP_733750.2in vitro16637659   
30062RAX3530NP_038463.2in vitro;in vivo11069920   
81559TRIM117429NP_660215.1yeast 2-hybrid16098226   
85358SHANK318979NP_001073889.1in vitro16637659   


Pathway Information


            
Pathway Name Pathway ID
Maturity onset diabetes of the young hsa04950
Signaling pathways regulating pluripotency of stem cells hsa04550


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd001315-131  PAX
cl214595-131  HTH superfamily
cd00086212-269  homeodomain
cl00084212-269  homeodomain superfamily
smart003514-128  PAX
pfam002924-128  PAX
pfam00046212-267  Homeobox
smart00389211-266  HOX
cd0009018-75  HTH_ARSR
pfam1338426-64  HTH_23
pfam1355126-128  HTH_29
COG5576185-288  COG5576
pfam03999199-417  MAP65_ASE1


Ontology Information


   
HPRD ID2656
Molecular ClassTranscription factor
Molecular FunctionDNA binding (GO:0003677)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO