Human Gene COL4A2 (ENST00000360467.7) from GENCODE V44
Description: Homo sapiens collagen type IV alpha 2 chain (COL4A2), mRNA. (from RefSeq NM_001846) RefSeq Summary (NM_001846): This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. 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 so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000360467.7 Gencode Gene: ENSG00000134871.19 Transcript (Including UTRs) Position: hg38 chr13:110,307,284-110,513,209 Size: 205,926 Total Exon Count: 48 Strand: + Coding Region Position: hg38 chr13:110,307,904-110,512,191 Size: 204,288 Coding Exon Count: 47
ID:CO4A2_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-2(IV) chain; Contains: RecName: Full=Canstatin; Flags: Precursor; FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. FUNCTION: Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas- dependent apoptosis and activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins. SUBUNIT: There are six type IV collagen isoforms, alpha 1(IV)- alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network. INTERACTION: P02462:COL4A1; NbExp=2; IntAct=EBI-2432506, EBI-2432478; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. DOMAIN: Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G- X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. PTM: Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens. PTM: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By similarity). PTM: Proteolytic processing produces the C-terminal NC1 peptide, canstatin. DISEASE: Defects in COL4A2 are the cause of porencephaly type 2 (POREN2) [MIM:614483]. POREN2 is a neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. DISEASE: Defects in COL4A2 are a cause of susceptibility to intracerebral hemorrhage (ICH) [MIM:614519]. ICH is a pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. SIMILARITY: Belongs to the type IV collagen family. SIMILARITY: Contains 1 collagen IV NC1 (C-terminal non- collagenous) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08572
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04510 - Focal adhesion hsa04512 - ECM-receptor interaction hsa05200 - Pathways in cancer hsa05222 - Small cell lung cancer
BioCarta from NCI Cancer Genome Anatomy Project h_intrinsicPathway - Intrinsic Prothrombin Activation Pathway h_npp1Pathway - Regulators of Bone Mineralization h_plateletAppPathway - Platelet Amyloid Precursor Protein Pathway h_vitCBPathway - Vitamin C in the Brain h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function h_amiPathway - Acute Myocardial Infarction
Reactome (by CSHL, EBI, and GO)
Protein P08572 (Reactome details) participates in the following event(s):
R-HSA-8944265 Association of procollagen type IV R-HSA-2002460 P4HB binds Collagen chains R-HSA-8948230 P3HB binds 4-Hyp-collagen propeptides R-HSA-4085087 Canstatin binds integrins alphaVbeta3, alphaVbeta5 R-HSA-3221843 MSR1 (SCARA1) binds collagen R-HSA-1650808 Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines R-HSA-1980233 Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen R-HSA-8948219 PLOD3 binds Lysyl hydroxylated collagen propeptides R-HSA-8948228 COLGALT1,COLGALT2 bind Lysyl hydroxylated collagen propeptides R-HSA-375151 Interaction of NCAM1 with collagens R-HSA-1981104 Procollagen lysyl hydroxylases convert collagen lysines to 5-hydroxylysines R-HSA-1981120 Galactosylation of collagen propeptide hydroxylysines by procollagen galactosyltransferases 1, 2. R-HSA-1981128 Galactosylation of collagen propeptide hydroxylysines by PLOD3 R-HSA-1981157 Glucosylation of collagen propeptide hydroxylysines R-HSA-382054 PDGF binds to extracellular matrix proteins R-HSA-2213207 Formation of collagen networks R-HSA-2022073 Procollagen triple helix formation R-HSA-8948216 Collagen chain trimerization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-216083 Integrin cell surface interactions R-HSA-3000480 Scavenging by Class A Receptors R-HSA-1474290 Collagen formation R-HSA-1474244 Extracellular matrix organization R-HSA-419037 NCAM1 interactions R-HSA-2173782 Binding and Uptake of Ligands by Scavenger Receptors R-HSA-186797 Signaling by PDGF R-HSA-375165 NCAM signaling for neurite out-growth R-HSA-5653656 Vesicle-mediated transport R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-9006934 Signaling by Receptor Tyrosine Kinases R-HSA-422475 Axon guidance R-HSA-162582 Signal Transduction R-HSA-1266738 Developmental Biology
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