Browse COL6A3

Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Secreted, extracellular space, extracellular matrix
Domain PF01391 Collagen triple helix repeat (20 copies)
PF00014 Kunitz/Bovine pancreatic trypsin inhibitor domain
PF00092 von Willebrand factor type A domain
Function

Collagen VI acts as a cell-binding protein.

> Gene Ontology
 
Biological Process GO:0007517 muscle organ development
GO:0010466 negative regulation of peptidase activity
GO:0010951 negative regulation of endopeptidase activity
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0032963 collagen metabolic process
GO:0043062 extracellular structure organization
GO:0044236 multicellular organism metabolic process
GO:0044243 multicellular organism catabolic process
GO:0044259 multicellular organismal macromolecule metabolic process
GO:0045861 negative regulation of proteolysis
GO:0051346 negative regulation of hydrolase activity
GO:0052547 regulation of peptidase activity
GO:0052548 regulation of endopeptidase activity
Molecular Function GO:0004857 enzyme inhibitor activity
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0030414 peptidase inhibitor activity
GO:0061134 peptidase regulator activity
GO:0061135 endopeptidase regulator activity
Cellular Component GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen trimer
GO:0005589 collagen type VI trimer
GO:0005788 endoplasmic reticulum lumen
GO:0042383 sarcolemma
GO:0044420 extracellular matrix component
GO:0098644 complex of collagen trimers
GO:0098647 collagen beaded filament
> KEGG and Reactome Pathway
 
KEGG hsa04151 PI3K-Akt signaling pathway
hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
hsa04974 Protein digestion and absorption
Reactome R-HSA-2022090: Assembly of collagen fibrils and other multimeric structures
R-HSA-422475: Axon guidance
R-HSA-1650814: Collagen biosynthesis and modifying enzymes
R-HSA-8948216: Collagen chain trimerization
R-HSA-1474290: Collagen formation
R-HSA-1266738: Developmental Biology
R-HSA-1474244: Extracellular matrix organization
R-HSA-375165: NCAM signaling for neurite out-growth
R-HSA-419037: NCAM1 interactions
R-HSA-162582: Signal Transduction
R-HSA-186797: Signaling by PDGF
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between COL6A3 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of COL6A3 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of COL6A3 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-1.6280.00303
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-2.2970.408
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-1.1270.551
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.8750.094
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-1.1810.75
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.4840.92
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0870.911
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.1330.952
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.1860.944
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 481.4230.487
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 283.6860.166
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.3360.134
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of COL6A3 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277318.512.36.20.518
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275918.515.33.20.757
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211728.617.6110.476
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)86250250.473
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131130.827.33.51
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.118.8-7.71
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 592022.2-2.21
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47014.3-14.31
1329033130MelanomaallAnti-PD-1 (nivolumab) 382718.418.5-0.11
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 221327.315.411.90.68
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.221.4-15.20.315
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of COL6A3. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of COL6A3. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by COL6A3.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of COL6A3. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of COL6A3 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between COL6A3 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolCOL6A3
Namecollagen, type VI, alpha 3
Aliases DYT27; collagen VI, alpha-3 polypeptide; Collagen alpha-3(VI) chain
Chromosomal Location2q37
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting COL6A3 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.