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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
COL4A6 1288 collagen, type IV, alpha 6  X- 







  • 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
16507901   2006Cell line : -

Source : Kumamoto University School of Medicine.

Sample Type : CRC Tumor and adjecent normal tissue

No. of Sample : 14

Stage : Duke Stage A,B,C.

Immunohistochemistry,In Situ Hybridization,RT-PCR,Bisulfite Sequencing,Luciferase Assays.Hypermethylation-The hypermethylation of the bidirectional promoter region of COL4A5/COL4A6 is one of the events that is responsible for the loss of expression of the alpha5(IV)/alpha6(IV) chains and the remodeling of the epithelial BM during cancer cell invasion.


Gene Details



NC_000023.10 (107398837..107682704, complement)

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Gene Type protein coding
Gene Family Collagens
Description This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]  
Chromosome X
Location Xq22
Start 107398837  
End 107682704  
Strand -  
Gene Sequence

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Length 283868  
OMIM ID 303631   
HGNC ID HGNC:2208   
Unigene ID Hs.145586   
Ensembl ID ENSG00000197565   
PharmGKB ID PA26723   

mRNA Information


mRNA ID NM_001847.3
Exon join(1..140,1505..1556,128670..128750,218124..218258, 219756..219800,225270..225386,227758..227826, 229494..229529,232918..232980,233803..233838, 234018..234059,235086..235178,236517..236570, 242919..242987,244372..244416,244911..244964, 245801..245870,246918..247025,247965..248105, 249002..249106,250821..250981,251471..251650, 252219..252402,258530..258601,258876..258983, 260060..260281,260653..260814,262487..262657, 263701..263844,264283..264408,264877..265058, 266966..267029,268037..268111,268581..268688, 268782..268889,269482..269553,269878..270003, 274012..274128,274460..274621,274800..274898, 276460..276606,277763..277879,278844..279035, 279750..280036,282238..283891)  
mRNA Sequence

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Length 6618  



CDS Information


   
Location127..5202
CDS Sequence

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CCDS ID CCDS14541.1



Protein Information


      
Protein IDNP_001838.2
Protein Namecollagen, type IV, alpha 6
Molecular Wt. (Da)0
Protein Sequence

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Length 1691  
Uniprot IDQ13153
Ensembl Protein ID ENSP00000278568  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

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
351APP100NP_000475.1in vitro9136074   
1634DCN501NP_001911.1in vivo10382266   
2199FBLN2630NP_001004019.1in vivo7500359   
2335FN1626NP_997647.1in vivo3997552   
4318MMP9387NP_004985.2in vivo9878537   
5008OSM1300NP_065391.1in vitro11711546   
5270SERPINE21510NP_001130002.1in vivo8006028   
22918CD93396NP_036204.2in vitro;in vivo1377218   


Pathway Information


                                                
Pathway Name Pathway ID
AGE-RAGE signaling pathway in diabetic complications hsa04933
Amoebiasis hsa05146
ECM-receptor interaction hsa04512
Focal adhesion hsa04510
Pathways in cancer hsa05200
PI3K-Akt signaling pathway hsa04151
Protein digestion and absorption hsa04974
Small cell lung cancer hsa05222


Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam014131467-1574  C4
cl024671467-1574  C4 superfamily
pfam014131575-1689  C4
cl024671575-1689  C4 superfamily
smart001111575-1689  C4
smart001111467-1574  C4
pfam01391664-723  Collagen
cl22949664-723  Collagen superfamily
pfam01391670-735  Collagen
pfam01391679-744  Collagen
pfam013911133-1191  Collagen
cl229491133-1191  Collagen superfamily
pfam01391682-745  Collagen
pfam01391783-842  Collagen
cl22949783-842  Collagen superfamily
pfam01391694-751  Collagen
pfam013911012-1071  Collagen
cl229491012-1071  Collagen superfamily
pfam01391661-724  Collagen
pfam01391888-947  Collagen
cl22949888-947  Collagen superfamily
pfam01391640-703  Collagen
pfam01391894-953  Collagen
pfam013911112-1169  Collagen
pfam01391870-927  Collagen
pfam01391660-719  Collagen
pfam01391777-833  Collagen
pfam01391359-416  Collagen
cl22949359-416  Collagen superfamily
pfam013911027-1091  Collagen
pfam056421070-1260  Sporozoite_P67
PRK14959777-907  PRK14959


Ontology Information


   
HPRD ID9051
Molecular ClassExtracellular matrix protein
Molecular FunctionTranscription regulator activity (GO:0030528)
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