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Aliases for COL4A2 Gene

Aliases for COL4A2 Gene

  • Collagen Type IV Alpha 2 2 3 2
  • Collagen, Type IV, Alpha 2 2 3 5
  • Canstatin 2 3
  • POREN2 3
  • ICH 3

External Ids for COL4A2 Gene

Previous GeneCards Identifiers for COL4A2 Gene

  • GC13P109319
  • GC13P105346
  • GC13P109796
  • GC13P108657
  • GC13P109757
  • GC13P110958
  • GC13P091559

Summaries for COL4A2 Gene

Entrez Gene Summary for COL4A2 Gene

  • 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]

GeneCards Summary for COL4A2 Gene

COL4A2 (Collagen Type IV Alpha 2) is a Protein Coding gene. Diseases associated with COL4A2 include porencephaly 2 and hemorrhage, intracerebral. Among its related pathways are Degradation of the extracellular matrix and Signaling by GPCR. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL4A2 Gene

  • 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.

  • 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.

Gene Wiki entry for COL4A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A2 Gene

Genomics for COL4A2 Gene

Regulatory Elements for COL4A2 Gene

Promoters for COL4A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL4A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL4A2 Gene

Chromosome:
13
Start:
110,305,812 bp from pter
End:
110,513,027 bp from pter
Size:
207,216 bases
Orientation:
Plus strand

Genomic View for COL4A2 Gene

Genes around COL4A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A2 Gene

Proteins for COL4A2 Gene

  • Protein details for COL4A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08572-CO4A2_HUMAN
    Recommended name:
    Collagen alpha-2(IV) chain
    Protein Accession:
    P08572
    Secondary Accessions:
    • Q14052
    • Q548C3
    • Q5VZA9
    • Q66K23

    Protein attributes for COL4A2 Gene

    Size:
    1712 amino acids
    Molecular mass:
    167553 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for COL4A2 Gene

neXtProt entry for COL4A2 Gene

Proteomics data for COL4A2 Gene at MOPED

Post-translational modifications for COL4A2 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Proteolytic processing produces the C-terminal NC1 peptide, canstatin.
  • The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
  • 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.
  • Glycosylation at Ser 111, Asn 138, Thr 1361, Thr 1403, and Ser 1446
  • Modification sites at PhosphoSitePlus

Other Protein References for COL4A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL4A2

No data available for DME Specific Peptides for COL4A2 Gene

Domains & Families for COL4A2 Gene

Gene Families for COL4A2 Gene

Suggested Antigen Peptide Sequences for COL4A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08572

UniProtKB/Swiss-Prot:

CO4A2_HUMAN :
  • 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.
  • Belongs to the type IV collagen family.
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.
  • Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.
Family:
  • Belongs to the type IV collagen family.
genes like me logo Genes that share domains with COL4A2: view

Function for COL4A2 Gene

Molecular function for COL4A2 Gene

GENATLAS Biochemistry:
collagen type IV,alpha 2,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin development
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with COL4A2: view

Human Phenotype Ontology for COL4A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COL4A2 Gene

Localization for COL4A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL4A2 Gene COMPARTMENTS Subcellular localization image for COL4A2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0031012 colocalizes_with extracellular matrix IEA,TAS 22261194
genes like me logo Genes that share ontologies with COL4A2: view

Pathways & Interactions for COL4A2 Gene

genes like me logo Genes that share pathways with COL4A2: view

Gene Ontology (GO) - Biological Process for COL4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007411 axon guidance TAS --
GO:0016525 negative regulation of angiogenesis IDA 10625665
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with COL4A2: view

No data available for SIGNOR curated interactions for COL4A2 Gene

Drugs & Compounds for COL4A2 Gene

(3) Additional Compounds for COL4A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL4A2: view

Transcripts for COL4A2 Gene

Unigene Clusters for COL4A2 Gene

Collagen, type IV, alpha 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A2 Gene

No ASD Table

Relevant External Links for COL4A2 Gene

GeneLoc Exon Structure for
COL4A2
ECgene alternative splicing isoforms for
COL4A2

Expression for COL4A2 Gene

mRNA expression in normal human tissues for COL4A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL4A2 Gene

This gene is overexpressed in Artery - Coronary (x4.4) and Artery - Aorta (x4.2).

Protein differential expression in normal tissues from HIPED for COL4A2 Gene

This gene is overexpressed in Amniocyte (32.9) and Gallbladder (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL4A2 Gene



SOURCE GeneReport for Unigene cluster for COL4A2 Gene Hs.508716

genes like me logo Genes that share expression patterns with COL4A2: view

Protein tissue co-expression partners for COL4A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for COL4A2 Gene

Orthologs for COL4A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL4A2 36
  • 98 (a)
OneToOne
COL4A2 35
  • 99.22 (n)
  • 99.18 (a)
cow
(Bos Taurus)
Mammalia COL4A2 35
  • 80.52 (n)
  • 82.7 (a)
COL4A2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL4A2 36
  • 85 (a)
OneToOne
COL4A2 35
  • 83.45 (n)
  • 86.24 (a)
mouse
(Mus musculus)
Mammalia Col4a2 16
Col4a2 36
  • 84 (a)
OneToOne
Col4a2 35
  • 81.18 (n)
  • 83.89 (a)
oppossum
(Monodelphis domestica)
Mammalia COL4A2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A2 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col4a2 35
  • 80.78 (n)
  • 84.06 (a)
chicken
(Gallus gallus)
Aves COL4A2 35
  • 63.64 (n)
  • 64.59 (a)
COL4A2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL4A2 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col4a2 35
  • 58.87 (n)
  • 61.49 (a)
zebrafish
(Danio rerio)
Actinopterygii col4a2 36
  • 53 (a)
OneToOne
col4a2 35
  • 55.13 (n)
  • 54.12 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009200 35
  • 52.55 (n)
  • 51.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 35
  • 51.44 (n)
  • 50.04 (a)
worm
(Caenorhabditis elegans)
Secernentea let-2 35
  • 53.99 (n)
  • 53.51 (a)
emb-9 37
  • 35 (a)
let-2 37
  • 72 (a)
Species with no ortholog for COL4A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL4A2 Gene

ENSEMBL:
Gene Tree for COL4A2 (if available)
TreeFam:
Gene Tree for COL4A2 (if available)

Paralogs for COL4A2 Gene

(10) SIMAP similar genes for COL4A2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with COL4A2: view

Variants for COL4A2 Gene

Sequence variations from dbSNP and Humsavar for COL4A2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_048796 -
rs3803230 - 110,467,049(-) GCCCT(C/G)CTATG reference, missense
rs62621885 - 110,430,425(+) GATTG(G/T)TCGGT reference, missense
rs78829338 - 110,469,223(+) TGCCA(A/G)AGGCC reference, missense
rs184812559 - 110,489,765(+) GGAGC(A/G)GGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL4A2 Gene

Variant ID Type Subtype PubMed ID
nsv523051 CNV Loss 19592680
esv27869 CNV Loss 19812545
esv2615739 CNV Deletion 19546169
esv2748004 CNV Deletion 23290073
esv1211999 CNV Deletion 17803354
esv2748005 CNV Deletion 23290073
esv27569 CNV Loss 19812545
esv2748006 CNV Deletion 23290073
esv2748008 CNV Deletion 23290073
esv2741976 CNV Deletion 23290073
esv2748009 CNV Deletion 23290073
esv23686 CNV Loss 19812545
esv2748010 CNV Deletion 23290073
esv2549928 CNV Insertion 19546169
esv2748011 CNV Deletion 23290073
esv2748012 CNV Deletion 23290073
esv2748013 CNV Deletion 23290073
esv2751128 CNV Loss 17911159
esv2748014 CNV Deletion 23290073
esv2073023 CNV Deletion 18987734
esv2748015 CNV Deletion 23290073
esv2674411 CNV Deletion 23128226
esv3301 CNV Deletion 18987735
dgv266e201 CNV Deletion 23290073
esv2748017 CNV Deletion 23290073
esv2748020 CNV Deletion 23290073
esv274014 CNV Insertion 20981092
esv270511 CNV Insertion 20981092
nsv509516 CNV Insertion 20534489
nsv901008 CNV Loss 21882294
nsv832720 CNV Loss 17160897
esv2748021 CNV Deletion 23290073
esv2748022 CNV Deletion 23290073
esv4175 CNV Deletion 18987735
esv2748023 CNV Deletion 23290073
esv2674221 CNV Deletion 23128226
esv5327 CNV Deletion 18987735
esv1140517 CNV Insertion 17803354
esv2748024 CNV Deletion 23290073
esv992456 CNV Insertion 20482838
esv995186 CNV Insertion 20482838
esv1260872 CNV Insertion 17803354
esv2078095 CNV Deletion 18987734
esv28289 CNV Loss 19812545
esv2748025 CNV Deletion 23290073
esv1645508 CNV Deletion 17803354
esv2748026 CNV Deletion 23290073
esv2661349 CNV Deletion 23128226
esv2748027 CNV Deletion 23290073
esv1576880 CNV Insertion 17803354
esv2624056 CNV Insertion 19546169
nsv901009 CNV Loss 21882294
esv2279017 CNV Deletion 18987734
nsv64022 CNV Loss 16902084
esv24656 CNV Loss 19812545
esv2748028 CNV Deletion 23290073
esv2667779 CNV Deletion 23128226
esv2748031 CNV Deletion 23290073
esv2748032 CNV Deletion 23290073
esv2369594 CNV Deletion 18987734
esv2748033 CNV Deletion 23290073
esv2748034 CNV Deletion 23290073

Variation tolerance for COL4A2 Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.16; 87.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL4A2 Gene

HapMap Linkage Disequilibrium report
COL4A2
Human Gene Mutation Database (HGMD)
COL4A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A2 Gene

Disorders for COL4A2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for COL4A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
porencephaly 2
  • poren2
hemorrhage, intracerebral
  • stroke, hemorrhagic
familial porencephaly
  • familial porencephalic white matter disease
porencephaly
alport syndrome
  • hereditary nephritis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A2_HUMAN
  • Porencephaly 2 (POREN2) [MIM:614483]: 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. {ECO:0000269 PubMed:22209246}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intracerebral hemorrhage (ICH) [MIM:614519]: 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. {ECO:0000269 PubMed:22209247}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for COL4A2

Genetic Association Database (GAD)
COL4A2
Human Genome Epidemiology (HuGE) Navigator
COL4A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL4A2
genes like me logo Genes that share disorders with COL4A2: view

No data available for Genatlas for COL4A2 Gene

Publications for COL4A2 Gene

  1. Duplication of type IV collagen COOH-terminal repeats and species- specific expression of alpha 1(IV) and alpha 2(IV) collagen genes. (PMID: 2439508) Myers J.C. … Macarak E.J. (J. Biol. Chem. 1987) 2 3 4 67
  2. Radiation and inhibition of angiogenesis by canstatin synergize to induce HIF-1alpha-mediated tumor apoptotic switch. (PMID: 17557121) Magnon C. … Schlumberger M. (J. Clin. Invest. 2007) 3 23
  3. Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PMID: 10625665) Kamphaus G.D. … Kalluri R. (J. Biol. Chem. 2000) 3 23
  4. Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. (PMID: 8317999) Fischer G. … Poeschl E. (Biochem. J. 1993) 3 23
  5. Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13. (PMID: 3025878) Griffin C.A. … Myers J.C. (Proc. Natl. Acad. Sci. U.S.A. 1987) 2 3

Products for COL4A2 Gene

Sources for COL4A2 Gene

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