Property Summary

NCBI Gene PubMed Count 89
PubMed Score 74.77
PubTator Score 57.52

Knowledge Summary


No data available


  Disease (6)

Disease Target Count P-value
periodontitis 269 1.3e-20
juvenile dermatomyositis 1189 2.9e-11
posterior fossa group A ependymoma 1511 2.3e-10
atypical teratoid / rhabdoid tumor 4369 5.1e-08
nasopharyngeal carcinoma 1056 1.8e-07
urothelial carcinoma 318 3.2e-07
pediatric high grade glioma 2712 1.1e-06
malignant mesothelioma 3163 1.2e-06
ovarian cancer 8491 1.9e-06
cystic fibrosis 1670 2.3e-06
Duchenne muscular dystrophy 602 4.8e-06
glioblastoma 5572 7.9e-06
pilocytic astrocytoma 3086 1.3e-05
medulloblastoma, large-cell 6234 2.9e-05
interstitial cystitis 2299 1.4e-04
primitive neuroectodermal tumor 3031 3.2e-04
psoriasis 6685 4.1e-04
pancreatic cancer 2300 4.5e-04
sonic hedgehog group medulloblastoma 1482 7.4e-04
head and neck cancer and chronic obstructive pulmonary disease 237 1.5e-03
oligodendroglioma 2849 1.7e-03
lung adenocarcinoma 2714 1.9e-03
primary pancreatic ductal adenocarcinoma 1271 2.5e-03
Becker muscular dystrophy 187 3.2e-03
pterygium 74 3.6e-03
ductal carcinoma in situ 1745 4.1e-03
limb girdle muscular dystrophy 2B 74 5.6e-03
ulcerative colitis 2087 5.7e-03
intraductal papillary-mucinous adenoma (IPMA) 2956 5.9e-03
gastric carcinoma 832 8.1e-03
invasive ductal carcinoma 2950 1.1e-02
osteosarcoma 7933 1.9e-02
intraductal papillary-mucinous carcinoma (IPMC) 2988 2.1e-02
Breast cancer 3098 2.4e-02
autosomal dominant Emery-Dreifuss muscular dystrophy 499 3.2e-02
Hydrolethalus syndrome 128 4.1e-02
dermatomyositis 966 4.5e-02
intraductal papillary-mucinous neoplasm (IPMN) 3289 4.8e-02
Disease Target Count Z-score Confidence
Porencephaly 8 5.488 2.7
Alport syndrome 21 3.299 1.6
Disease Target Count
Porencephaly 2 1
Disease Target Count
Intracerebral hemorrhage 3


  Differential Expression (38)

Disease log2 FC p
urothelial carcinoma 3.500 3.2e-07
malignant mesothelioma -1.700 1.2e-06
posterior fossa group A ependymoma 2.500 2.3e-10
psoriasis 2.200 4.1e-04
glioblastoma 2.900 7.9e-06
oligodendroglioma 1.100 1.7e-03
osteosarcoma 2.090 1.9e-02
sonic hedgehog group medulloblastoma 2.200 7.4e-04
cystic fibrosis -1.509 2.3e-06
periodontitis 1.300 1.3e-20
atypical teratoid / rhabdoid tumor 2.700 5.1e-08
medulloblastoma, large-cell 2.400 2.9e-05
primitive neuroectodermal tumor 2.000 3.2e-04
Duchenne muscular dystrophy 1.641 4.8e-06
autosomal dominant Emery-Dreifuss muscul... 1.193 3.2e-02
Becker muscular dystrophy 1.678 3.2e-03
juvenile dermatomyositis 2.002 2.9e-11
limb girdle muscular dystrophy 2B 1.175 5.6e-03
primary pancreatic ductal adenocarcinoma 3.366 2.5e-03
intraductal papillary-mucinous adenoma (... -1.900 5.9e-03
intraductal papillary-mucinous carcinoma... -1.800 2.1e-02
intraductal papillary-mucinous neoplasm ... -1.800 4.8e-02
Hydrolethalus syndrome 1.452 4.1e-02
Breast cancer 3.000 2.4e-02
interstitial cystitis 2.300 1.4e-04
pediatric high grade glioma 2.500 1.1e-06
pilocytic astrocytoma 2.200 1.3e-05
nasopharyngeal carcinoma 2.200 1.8e-07
lung adenocarcinoma 1.168 1.9e-03
gastric carcinoma 1.600 8.1e-03
pterygium 1.100 3.6e-03
ductal carcinoma in situ -1.200 4.1e-03
invasive ductal carcinoma -1.100 1.1e-02
ulcerative colitis 1.300 5.7e-03
ovarian cancer 3.000 1.9e-06
pancreatic cancer 3.500 4.5e-04
dermatomyositis 1.400 4.5e-02
head and neck cancer and chronic obstruc... 1.200 1.5e-03

Gene RIF (33)

26343951 No significant change in canstatin levels was observed between normotensive and pre-eclampsia patients.
26310581 SMAD3 is a necessary factor for TGFbeta-mediated stimulation of mRNA and protein expression of type IV collagen genes in human vascular smooth muscle cells; it regulates expression of COL4a1 and COL4a2
26209635 analysis of the unique AAB composition and chain register for a heterotrimeric type IV collagen model peptide COL4a1/COL4a2 containing a natural interruption site
26006016 Studied the role of alpha1 and alpha2 chains of type IV collagen in UIP; found type IV collagen deposition in early fibrotic lesions of UIP may be implicated in refractory pathophysiology including migration of lesion fibroblasts via a FAK pathway.
25653287 An association was found between common variation in the COL4A2 gene and sporadic cerebral small vessel disease.
25169943 Reduction of COL4A2 expression by RNAI-mediated knockdown induces cell death. Finally, elevated Notch3 expression levels correlate with higher COL4A2 expression in human ovarian tumor specimens
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
24503185 Interleukin-1-induced changes in the glioblastoma secretome suggest its role in tumor progression.
24317722 The whole exome sequencing showed no pathological mutations of COL4A1 and COL4A2 in fetal intraventricular hemorrhage
23818951 Data indicate that the aberrantly methylated and expressed genes in cancer process including IRS1 and collagen-related genes COL4A1, COL4A2 and COL6A3.
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.
22333902 dominant COL4A2 mutations are a novel major risk factor for familial cerebrovascular disease, including porencephaly and small-vessel disease with reduced penetrance and variable phenotype, which might also be modified by other contributing factors.
22209247 The data suggested that COL4A2 mutations impair COL4A1 and COL4A2 secretion and can also result in cytotoxicity. The findings also suggested that, collectively, mutations in COL4A1 and COL4A2 contribute to sporadic cases of intracerebral hemorrhage.
22209246 this study confirmed that abnormalities of the alpha1alpha1alpha2 heterotrimers of type IV collagen cause porencephaly and stresses the importance of screening for COL4A2 as well as for COL4A1.
21527998 Screening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes in keratoconus patients. None of the identified sequence variants completely segregated with the affected keratoconus phenotype.
20805453 COL4A2 was overexpressed in the ER-negative breast cancer group.
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)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20080650 Observational study of gene-disease association. (HuGE Navigator)
20067797 Data showed that miR-29a negatively regulated collagen IV by directly targeting the 3'UTRs of col4a1 and col4a2.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19481338 E1B-55kD-deleted oncolytic adenovirus armed with canstatin gene yields an enhanced anti-tumor efficacy on pancreatic cancer.
18706356 The co-detection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome.
18050191 In mildly inflamed synovium from trauma patients, collagen alpha1/2(IV) chains were strongly present.
17557121 support a crucial role for angiogenesis inhibitors in shifting the fate of radiation-induced HIF-1alpha activity from hypoxia-induced tumor radioresistance to hypoxia-induced tumor apoptosis
17554254 Comparison of alpha5(IV) with alpha2(IV) expression in Alport patients is simple and eliminates technical artifacts.
17216253 Mutation does not represent a further major genetic locus for thin basement membrane nephropathy.
15743801 alpha2(IV)NC1 domain has a role in regulating tumor cell behavior
15522229 Data show that the NC1 but not 7S domain is essential for chain association and initiation of triple helix formation in human collagen alpha2(IV) .
12021518 an imbalance of glomerular alpha2(IV) and alpha5(IV) chain expression occurred in IgA nephropathy
7495302 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

AA Sequence

EQSFQGSPSADTLKAGLIRTHISRCQVCMKNL                                         1681 - 1712

Text Mined References (93)

PMID Year Title
26343951 2015 Anti-angiogenic collagen fragment arresten is increased from 16 weeks' gestation in pre-eclamptic plasma.
26310581 2015 Functional interaction between COL4A1/COL4A2 and SMAD3 risk loci for coronary artery disease.
26209635 2015 NMR studies demonstrate a unique AAB composition and chain register for a heterotrimeric type IV collagen model peptide containing a natural interruption site.
26006016 2015 Role of ?1 and ?2 chains of type IV collagen in early fibrotic lesions of idiopathic interstitial pneumonias and migration of lung fibroblasts.
25653287 2015 Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
25169943 2015 Notch3 overexpression promotes anoikis resistance in epithelial ovarian cancer via upregulation of COL4A2.
24503185 2014 Interleukin-1-induced changes in the glioblastoma secretome suggest its role in tumor progression.
24317722 2014 Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23818951 2013 Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas.
23658023 2013 Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance.
23551189 2014 Angiogenesis and collagen type IV expression in different endothelial cell culture systems.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.
22261194 2012 Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury.
22209247 2012 COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen ?2 chain cause porencephaly.
22144573 2011 Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
21527998 2011 Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
21269460 2011 Initial characterization of the human central proteome.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20805453 2010 Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.
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.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20080650 2010 Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
20067797 2010 High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19481338 2009 E1B-55kD-deleted oncolytic adenovirus armed with canstatin gene yields an enhanced anti-tumor efficacy on pancreatic cancer.
18706356 2008 [Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies].
18050191 2007 Type IV collagen alpha-chain composition in synovial lining from trauma patients and patients with rheumatoid arthritis.
17557121 2007 Radiation and inhibition of angiogenesis by canstatin synergize to induce HIF-1alpha-mediated tumor apoptotic switch.
17554254 2007 Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients.
17216253 2007 Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15899827 2005 Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.
15743801 2005 Recombinant alpha2(IV)NC1 domain inhibits tumor cell-extracellular matrix interactions, induces cellular senescence, and inhibits tumor growth in vivo.
15522229 2004 The NC1 domain of human collagen IV is necessary to initiate triple helix formation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
12878203 2003 Characterization of the enzymatic activity of human kallikrein 6: Autoactivation, substrate specificity, and regulation by inhibitors.
12876280 2003 Canstatin inhibits Akt activation and induces Fas-dependent apoptosis in endothelial cells.
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.
12021518 2002 Glomerular expression of alpha2(IV) and alpha5(IV) chains of type IV collagen in patients with IgA nephropathy.
12011424 2002 The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link.
11867580 2002 Molecular properties of wild-type and mutant betaIG-H3 proteins.
11711546 2002 Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M.
11683410 2001 Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
11259413 2001 Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.
10926178 2000 Fibrosis and angiogenesis.
10625665 2000 Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth.
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.
9409248 1997 In vitro interactions of oxidatively modified LDL with type I, II, III, IV, and V collagen, laminin, fibronectin, and poly-D-lysine.
9334230 1997 Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen.
9136074 1997 Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans.
8995276 1997 Characterization of high affinity binding between laminin and the acute-phase protein, serum amyloid A.
8317999 1993 Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription.
8006028 1994 Regulation of protease nexin-1 target protease specificity by collagen type IV.
7827955 1994 Nature and the multiple functions of the 67-kD elastin-/laminin binding protein.
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.
3997552 1985 Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II.
3692475 1987 Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).
3582677 1987 Nucleotide sequence coding for the human type IV collagen alpha 2 chain cDNA reveals extensive homology with the NC-1 domain of alpha 1 (IV) but not with the collagenous domain or 3'-untranslated region.
3345760 1988 Human basement membrane collagen (type IV). The amino acid sequence of the alpha 2(IV) chain and its comparison with the alpha 1(IV) chain reveals deletions in the alpha 1(IV) chain.
3198637 1988 The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain.
3182844 1988 The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.
3089234 1986 Collagen types in various layers of the human aorta and their changes with the atherosclerotic process.
3025878 1987 Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.
2846280 1988 The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.
2844531 1988 The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.
2439508 1987 Duplication of type IV collagen COOH-terminal repeats and species-specific expression of alpha 1(IV) and alpha 2(IV) collagen genes.
2426947 1986 Extracellular matrix of the human optic nerve head.
2211625 1990 Interaction of osteogenin, a heparin binding bone morphogenetic protein, with type IV collagen.
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.