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Aliases for COL4A2 Gene

Aliases for COL4A2 Gene

  • Collagen Type IV Alpha 2 Chain 2 3 5
  • Collagen Type IV Alpha 2 2 2
  • Canstatin 2 3
  • Collagen Alpha-2(IV) Chain 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 Chain) is a Protein Coding gene. Diseases associated with COL4A2 include Porencephaly 2 and Hemorrhage, Intracerebral. Among its related pathways are miRNA targets in ECM and membrane receptors and Cell adhesion_Plasmin signaling. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

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

Additional gene information for COL4A2 Gene

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

Genomics for COL4A2 Gene

Regulatory Elements for COL4A2 Gene

Enhancers for COL4A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H111152 1.4 ENCODE dbSUPER 20.4 +848.0 848046 3 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 SP3 COL4A2 ARHGEF7 ARHGEF7-AS2 COL4A1 LOC101060553 SALL4P4
GH13H110321 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.9 +27.1 27135 23 INSM2 KLF17 FEZF1 ZNF2 ETS1 ZNF366 ZSCAN5C SCRT2 FOS ATF7 COL4A1 COL4A2 MIR8073
GH13H110386 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +95.0 95047 28 PKNOX1 ATF1 FEZF1 BRCA1 ZNF2 YY1 GLIS2 GATA2 ZNF143 ATF7 COL4A1 COL4A2 ANKRD10-IT1 COL4A2-AS2 ANKRD10 RAB20 GC13P110400 ENSG00000275611
GH13H110136 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -168.1 -168127 3 ATF1 SIN3A GLIS2 ELK1 ZNF143 FOS ATF7 REST ZNF518A GLIS1 COL4A2 COL4A1 RAB20 IRS2 LOC101927712 LOC105370361
GH13H110442 1.1 ENCODE dbSUPER 19.2 +140.0 139972 7 PKNOX1 FOXA2 BATF RAD21 SCRT2 ZNF143 FOS ATF7 ETV6 RUNX3 COL4A2 RAB20 NAXD COL4A2-AS2 ENSG00000275611
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL4A2 on UCSC Golden Path with GeneCards custom track

Promoters for COL4A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065805 1388 4001 ZSCAN5A SUZ12 ZNF76 SIN3A RAD21 ZNF2 E2F1 ZFHX2 GATA3 GLIS2

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

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 posLast=111111, Asn138, Thr1361, Thr1403, and Ser1446
  • Modification sites at PhosphoSitePlus

Other Protein References for COL4A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL4A2 Gene

Domains & Families for COL4A2 Gene

Gene Families for COL4A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
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.

Phenotypes From GWAS Catalog for COL4A2 Gene

Gene Ontology (GO) - Molecular Function for COL4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 8317999
GO:0005515 protein binding IPI 12011424
genes like me logo Genes that share ontologies with COL4A2: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL4A2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL4A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COL4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005587 collagen type IV trimer TAS 2846280
GO:0005604 basement membrane IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0016525 negative regulation of angiogenesis IDA 10625665
GO:0030198 extracellular matrix organization NAS,TAS --
GO:0030574 collagen catabolic process 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL4A2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for COL4A2 Gene



Protein tissue co-expression partners for COL4A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL4A2 Gene:

COL4A2

SOURCE GeneReport for Unigene cluster for COL4A2 Gene:

Hs.508716

Evidence on tissue expression from TISSUES for COL4A2 Gene

  • Eye(4.7)
  • Liver(4.2)
  • Skin(4.2)
  • Pancreas(3.5)
  • Nervous system(3.5)
  • Kidney(3.1)
  • Lung(3.1)
  • Heart(2.8)
  • Intestine(2.8)
  • Spleen(2.4)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • head
  • meninges
  • skull
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with COL4A2: view

Primer 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 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia COL4A2 33 34
  • 83.45 (n)
mouse
(Mus musculus)
Mammalia Col4a2 33 16 34
  • 81.18 (n)
rat
(Rattus norvegicus)
Mammalia Col4a2 33
  • 80.78 (n)
cow
(Bos Taurus)
Mammalia COL4A2 33 34
  • 80.52 (n)
oppossum
(Monodelphis domestica)
Mammalia COL4A2 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL4A2 33 34
  • 63.64 (n)
lizard
(Anolis carolinensis)
Reptilia COL4A2 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col4a2 33
  • 58.87 (n)
zebrafish
(Danio rerio)
Actinopterygii col4a2 33 34
  • 55.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009200 33
  • 52.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 33
  • 51.44 (n)
worm
(Caenorhabditis elegans)
Secernentea let-2 35 33
  • 53.99 (n)
emb-9 35
  • 35 (a)
Species where no ortholog for COL4A2 was found in the sources mined by GeneCards:
  • 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
rs387906602 Pathogenic, Porencephaly 2 (POREN2) [MIM:614483] 110,492,070(+) CCCAG(A/G)CTTTC reference, missense
rs387906603 Pathogenic, Porencephaly 2 (POREN2) [MIM:614483] 110,485,739(+) CAAGG(A/G)AGACA reference, missense
rs1057519090 Pathogenic 110,492,105(+) CGCAG(A/G)GAGAG reference, missense
rs113994103 Pathogenic 110,307,027(-) CCACC(A/T)TGGGG upstream-variant-2KB, reference, missense
rs797044947 Likely pathogenic 110,503,855(+) CCCCC(A/G)GGACT intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv239e201 CNV deletion 23290073
dgv3392n54 CNV loss 21841781
dgv3393n54 CNV loss 21841781
dgv3394n54 CNV loss 21841781
dgv3395n54 CNV gain 21841781
esv1140517 CNV insertion 17803354
esv1211999 CNV deletion 17803354
esv1260872 CNV insertion 17803354
esv1576880 CNV insertion 17803354
esv1645508 CNV deletion 17803354
esv2073023 CNV deletion 18987734
esv2078095 CNV deletion 18987734
esv2279017 CNV deletion 18987734
esv23686 CNV loss 19812545
esv2369594 CNV deletion 18987734
esv24656 CNV loss 19812545
esv2549928 CNV insertion 19546169
esv2615739 CNV deletion 19546169
esv2624056 CNV insertion 19546169
esv2661349 CNV deletion 23128226
esv2667779 CNV deletion 23128226
esv2674221 CNV deletion 23128226
esv2674411 CNV deletion 23128226
esv2741976 CNV deletion 23290073
esv2748004 CNV deletion 23290073
esv2748005 CNV deletion 23290073
esv2748006 CNV deletion 23290073
esv2748008 CNV deletion 23290073
esv2748009 CNV deletion 23290073
esv2748010 CNV deletion 23290073
esv2748011 CNV deletion 23290073
esv2748012 CNV deletion 23290073
esv2748013 CNV deletion 23290073
esv2748014 CNV deletion 23290073
esv2748015 CNV deletion 23290073
esv2748017 CNV deletion 23290073
esv2748020 CNV deletion 23290073
esv2748021 CNV deletion 23290073
esv2748022 CNV deletion 23290073
esv2748023 CNV deletion 23290073
esv2748024 CNV deletion 23290073
esv2748025 CNV deletion 23290073
esv2748026 CNV deletion 23290073
esv2748027 CNV deletion 23290073
esv2748028 CNV deletion 23290073
esv2748031 CNV deletion 23290073
esv2748032 CNV deletion 23290073
esv2748033 CNV deletion 23290073
esv2748034 CNV deletion 23290073
esv2751128 CNV loss 17911159
esv27569 CNV loss 19812545
esv2763053 CNV loss 21179565
esv27869 CNV loss 19812545
esv28289 CNV loss 19812545
esv3247385 CNV deletion 24192839
esv3301 CNV loss 18987735
esv3373422 CNV insertion 20981092
esv3448379 CNV duplication 20981092
esv3551077 CNV deletion 23714750
esv3551079 CNV deletion 23714750
esv3580897 CNV loss 25503493
esv3580898 CNV loss 25503493
esv3580899 CNV loss 25503493
esv3633545 CNV loss 21293372
esv4175 CNV loss 18987735
esv5327 CNV loss 18987735
esv992456 CNV insertion 20482838
esv995186 CNV insertion 20482838
nsv1038914 CNV loss 25217958
nsv1044234 CNV gain 25217958
nsv1046291 CNV loss 25217958
nsv1046423 CNV gain 25217958
nsv1070613 CNV deletion 25765185
nsv1070614 CNV deletion 25765185
nsv1070615 CNV deletion 25765185
nsv1113606 CNV deletion 24896259
nsv1120428 CNV deletion 24896259
nsv1138270 CNV deletion 24896259
nsv1138271 CNV deletion 24896259
nsv1141490 CNV deletion 24896259
nsv1142160 CNV tandem duplication 24896259
nsv1153941 CNV deletion 26484159
nsv509516 CNV insertion 20534489
nsv523051 CNV loss 19592680
nsv563104 CNV gain 21841781
nsv563105 CNV gain 21841781
nsv563115 CNV loss 21841781
nsv563117 CNV loss 21841781
nsv563120 CNV gain 21841781
nsv563121 CNV loss 21841781
nsv64022 CNV deletion 16902084
nsv832720 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
COL4A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A2

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

Disorders for COL4A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for COL4A2 Gene - From: HGMD, 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
  • x-linked alport syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A2_HUMAN
  • 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.
  • 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.

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. Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PMID: 10625665) Kamphaus GD … Kalluri R (The Journal of biological chemistry 2000) 3 4 22 60
  2. 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 … Pöschl E (The Biochemical journal 1993) 3 4 22 60
  3. 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 CA … Myers JC (Proceedings of the National Academy of Sciences of the United States of America 1987) 2 3 4 60
  4. 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 JC … Macarak EJ (The Journal of biological chemistry 1987) 2 3 4 60
  5. COL4A2 mutation associated with familial porencephaly and small-vessel disease. (PMID: 22333902) Verbeek E … Mancini GM (European journal of human genetics : EJHG 2012) 3 4 60

Products for COL4A2 Gene

Sources for COL4A2 Gene

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