Property Summary

NCBI Gene PubMed Count 51
PubMed Score 24.97
PubTator Score 31.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (20)

 OMIM Phenotype (1)

 MGI Phenotype (1)

 GWAS Trait (1)

Gene RIF (21)

PMID Text
26179878 New deletion in COL4A6/COL4A5 related to diffuse esophageal leiomyomatosis associated with Alport syndrome in a Chinese family.
24742657 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
23714752 COL4A6 is associated with X-linked nonsyndromic hearing loss.
23621580 We showed that TPM2, CLU, and COL4A6 mRNA levels are downregulated in prostate cancer.
23551189 The expression of collagen type IV and its alpha chains (alpha1-6) was investigated in different endothelial cell culture systems in vitro qualitatively and quantitatively.
21380622 In this paper we improve the definition of the COL4A5/COL4A6 deletions in three Alport syndrome with diffuse leiomyomatosis.
20951201 expression of collagen type IV alpha6 chain in the smooth muscle BM of the gastrointestinal tract is restricted to the esophagus in humans
20673868 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20452482 Observational study of gene-disease association. (HuGE Navigator)
20359090 The expression of Col I, Col IV and Fn was closely related to tumor invasion, the regional lymph node metastasis and other pathological features in laryngeal squamous cell carcinoma.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19422682 Results suggest that the down-regulation of alpha 6(IV) mRNA coincides with the acquisition of invasive growth properties, whereas alpha1(IV) and alpha1(VII) mRNAs were up-regulated already in dysplastic tissue.
18782525 The expression of collagen type IV was significantly decreased in colorectal cancer tissues.
18474427 Meningiomas increase in size through increased production of extracellular matrix; furthermore, the proliferation of cells typically associated with neoplasia requires considerable interaction with the extracellular matrix.
18074349 Type IV collagen alpha6 chain-derived noncollagenous domain 1 (alpha6NC1) is an endogenous inhibitor of angiogenesis and tumor growth.
17955302 This study showed that in some cases of esophageal squamous cell carcinoma the alpha5/alpha6 (IV) chains are expressed linearly around the cancer cell nests and the alpha5/alpha6 (IV) chain expression is one prognostic factor of ESCC.
16507901 The expression of the alpha5(IV)/alpha6(IV) chains was down-regulated in colorectal cancer, and the loss of expression of the alpha5(IV)/alpha6(IV) chains was associated with the hypermethylation of their promoter region.
15679046 Enhanced expression of collagen type IV is associated with liver metastases from gastrointestinal tumours
15211113 Collagen chains alpha5(IV) and alpha6(IV) were frequently absent in basement membrane from pancreatic adenocarcinoma, and their absence might be related to the invasion of cancer cells.
14592452 We provide a first indication that highly specialized patterns characteristic of COL4A5-COL4A6 expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent.

AA Sequence

MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGPTGPQGFTGST      1 - 70
GLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGPPGLDGCNGTQGAVGFPGPDG     71 - 140
YPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLDGITGPQGAPGFPGAVGPAGPPGLQGPPGPP    141 - 210
GPLGPDGNMGLGFQGEKGVKGDVGLPGPAGPPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPG    211 - 280
LGTTGEKGEKGEKGIPGLPGPRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFI    281 - 350
DIDGAVISGNPGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTI    351 - 420
GAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSGFCACDGGVPN    421 - 490
TGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSGPKGKKGEPILSTIQGMPGDR    491 - 560
GDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGEKGLPGLPGEKGHPGPPGLPGNGLPGLPGPR    561 - 630
GLPGDKGKDGLPGQQGLPGSKGITLPCIIPGSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPG    631 - 700
SPGLVHLPELPGFPGPRGEKGLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLT    701 - 770
GHKGFLGDSGLPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISG    771 - 840
HPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKGSVGFVGFPGI    841 - 910
PGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRRPMSNLWLKGDKGSQGSAGSN    911 - 980
GFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPPGFMGIRGLPGLKGSSGITGFPGMPGESGSQ    981 - 1050
GIRGSPGLPGASGLPGLKGDNGQTVEISGSPGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVS   1051 - 1120
GDVGLPGAPGFPGVAGMRGEPGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPG   1121 - 1190
PSITGVPGPAGLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGD   1191 - 1260
PGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGELGLKGMRGEP   1261 - 1330
GFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPGPLGLPGIDGIPGLTGDPGAQ   1331 - 1400
GPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQGPPGFEGAPGQQGPFGMPGMPGQSMRVGYTL   1401 - 1470
VKHSQSEQVPPCPIGMSQLWVGYSLLFVEGQEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRND   1471 - 1540
KSYWLSTTAPIPMMPVSQTQIPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAG   1541 - 1610
AEGGGQSLVSPGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTR   1611 - 1680
VSRCQVCMKSL                                                              1681 - 1691
//

Text Mined References (53)

PMID Year Title
26179878 2015 Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
23714752 2014 Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
23621580 2013 Identification of new genes downregulated in prostate cancer and investigation of their effects on prognosis.
23551189 2014 Angiogenesis and collagen type IV expression in different endothelial cell culture systems.
21380622 2011 Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
20951201 2011 Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
20359090 2009 [Expression and pathobiological significance of Col I, Col IV and Fn in laryngeal squamous cell carcinomas].
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19422682 2009 Collagen mRNA levels changes during colorectal cancer carcinogenesis.
18782525 2008 [Expression of MMP-2, MMP-9 and collagen type IV and their relationship in colorectal carcinomas].
18474427 2008 Immunohistochemical study of the extracellular matrix proteins laminin, fibronectin and type IV collagen in secretory meningiomas.
18074349 2008 Type IV collagen alpha6 chain-derived noncollagenous domain 1 (alpha6(IV)NC1) inhibits angiogenesis and tumor growth.
17955302 2008 The expression of type IV collagen alpha6 chain is related to the prognosis in patients with esophageal squamous cell carcinoma.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16507901 2006 Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15679046 2004 Collagen type IV, laminin, alpha-smooth muscle actin (alphaSMA), alpha1 and alpha6 integrins expression in the liver with metastases from malignant gastrointestinal tumours.
15211113 2004 Immunohistochemical localization of type IV collagen alpha chains in the basement membrane of the pancreatic duct in human normal pancreas and pancreatic diseases.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14592452 2003 Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice.
12878203 2003 Characterization of the enzymatic activity of human kallikrein 6: Autoactivation, substrate specificity, and regulation by inhibitors.
12784310 2003 Alport syndrome with diffuse leiomyomatosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12180907 2002 Matrilin-2 interacts with itself and with other extracellular matrix proteins.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11711546 2002 Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10416788 1999 Corneal cell proteins and ocular surface pathology.
10382266 1999 Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth.
9878537 1998 MMP-9 from TNF alpha-stimulated keratinocytes binds to cell membranes and type I collagen: a cause for extended matrix degradation in inflammation?
9673377 A tumor derived motility factor that stimulates cell migration on extracellular matrix.
9506531 1998 Stimulation of extracellular matrix components in the normal brain by invading glioma cells.
9136074 1997 Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans.
8661006 1996 Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.
8356449 1993 Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
8175748 1994 Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains.
8125972 1994 Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5.
8006028 1994 Regulation of protease nexin-1 target protease specificity by collagen type IV.
7972123 1994 The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters.
7592929 1995 Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes.
7500359 1995 Binding of mouse and human fibulin-2 to extracellular matrix ligands.
6988303 1980 Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin.
6811420 1982 Monoclonal antibody to human basement membrane collagen type IV.
6389236 1984 Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas.
6386565 1984 The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen.
3997552 1985 Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II.
2426947 1986 Extracellular matrix of the human optic nerve head.
1724753 1991 Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface.
1377218 1992 Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV.