Aliases for COL4A2 Gene
Aliases for COL4A2 Gene
External Ids for COL4A2 Gene
- HGNC: 2203
- Entrez Gene: 1284
- Ensembl: ENSG00000134871
- OMIM: 120090
- UniProtKB: P08572
Previous GeneCards Identifiers for COL4A2 Gene
- GC13P109319
- GC13P105346
- GC13P109796
- GC13P108657
- GC13P109757
- GC13P110958
- GC13P091559
Summaries 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 Collagen chain trimerization and Phospholipase-C Pathway. 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.
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL4A2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the COL4A2 gene promoter:
Regulatory Element Products
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:
-
- 13q34 by Ensembl
- 13q34 by Entrez Gene
- 13q34 by HGNC
COL4A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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 Ser111, Asn138, Thr1361, Thr1403, and posLast=14461446
- Modification sites at PhosphoSitePlus
Other Protein References for COL4A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for COL4A2
-
Custom Antibody ServicesOriGene Antibodies for COL4A2
-
Abcam antibodies for COL4A2
-
Cloud-Clone Corp. Antibodies for COL4A2
- Invitrogen Antibodies for COL4A2
- antibodies-online Antibodies for COL4A2: See all 28
- GeneTex COL4A2 antibody for COL4A2
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL4A2
Protein Products
-
OriGene Purified Proteins for COL4A2
- Search Origene for MassSpec and Protein Over-expression Lysates for COL4A2
- Origene Custom Protein Services for COL4A2
-
Cloud-Clone Corp. Proteins for COL4A2
- antibodies-online Proteins for COL4A2: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for COL4A2
Assay Products
- antibodies-online Kits for COL4A2: See all 10
No data available for DME Specific Peptides for COL4A2 Gene
Domains & Families for COL4A2 Gene
Gene Families for COL4A2 Gene
- HGNC:
Protein Domains for COL4A2 Gene
Suggested Antigen Peptide Sequences for COL4A2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P08572UniProtKB/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.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | TAS | 8317999 |
| GO:0005515 | protein binding | IPI | 12011424 |
Phenotypes for COL4A2 Gene
- MGI mutant phenotypes for COL4A2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for COL4A2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL4A2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A2 gene
- Search ViGene Biosciences for COL4A2
CRISPR Products
-
OriGene CRISPR knockouts for COL4A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A2
- GenScript: Design CRISPR guide RNA sequences for COL4A2
miRNA for COL4A2 Gene
- miRTarBase miRNAs that target COL4A2
-
- hsa-mir-29b-3p (MIRT000099)
- hsa-mir-29c-3p (MIRT001926)
- hsa-mir-29a-3p (MIRT003220)
- hsa-mir-155-5p (MIRT020729)
- hsa-mir-26b-5p (MIRT029546)
- hsa-mir-615-3p (MIRT040463)
- hsa-mir-10a-5p (MIRT047706)
- hsa-mir-92a-3p (MIRT049302)
- hsa-mir-16-5p (MIRT051129)
- hsa-mir-210-3p (MIRT054207)
- hsa-mir-147b (MIRT054216)
- hsa-mir-767-5p (MIRT437565)
miRNA Products
- Search ViGene Biosciences for COL4A2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A2
- Browse OriGene Inhibitory RNA Products For COL4A2
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL4A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for COL4A2
-
ViGene Biosciences adenoviral particle packaged cDNA for COL4A2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A2 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13343) for COL4A2
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| 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 | -- |
Pathways & Interactions for COL4A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | ECM-receptor interaction | ||
| 5 | Focal Adhesion |
.62
|
.62
|
Pathways by source for COL4A2 Gene
3 BioSystems pathways for COL4A2 Gene
15 Reactome pathways for COL4A2 Gene
1 PharmGKB pathway for COL4A2 Gene
8 KEGG pathways for COL4A2 Gene
5 GeneGo (Thomson Reuters) pathways for COL4A2 Gene
15 Qiagen pathways for COL4A2 Gene
Interacting Proteins for COL4A2 Gene
Selected Interacting proteins:
P08572-CO4A2_HUMAN
ENSP00000353654
for COL4A2 Gene via
MINT
STRING
UniProtKB
IID
| 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 | TAS | -- |
| GO:0030574 | collagen catabolic process | TAS | -- |
No data available for SIGNOR curated interactions for COL4A2 Gene
Transcripts for COL4A2 Gene
mRNA/cDNA for COL4A2 Gene
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (663) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL4A2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL4A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A2
- GenScript: Design CRISPR guide RNA sequences for COL4A2
miRNA Products
- Search ViGene Biosciences for COL4A2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A2
- Browse OriGene Inhibitory RNA Products For COL4A2
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for COL4A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13343) for COL4A2
Expression for COL4A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Anterior Neck Muscles
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Trunk Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Lumbar Vertebrae Column Muscles
-
Limb (Muscoskeletal System)
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Ventral Muscles
- Multinuclear Myocytes Hindlimb Dorsal Muscle
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Basal Cells Trachea
- Podocytes Podocyte Layer
-
Dermis (Integumentary System)
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Ventral Dermis
- Dermal Fibroblasts Cranial Dermis
- Dermal Fibroblasts Dorsal Dermis
-
Kidney (Urinary System)
- Angioblasts S-shaped Body
- Podocytes Podocyte Layer
- mK4
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Lung (Respiratory System)
- Basal Cells Trachea
-
Endothelium (Cardiovascular System)
- Angioblasts S-shaped Body
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Smooth Muscle (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL4A2 Gene:
COL4A2SOURCE GeneReport for Unigene cluster for COL4A2 Gene:
Hs.508716Evidence 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
Primer Products
-
OriGene qPCR primer pairs for COL4A2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL4A2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COL4A2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Col4a2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col4a2 34 |
|
||
| cow (Bos Taurus) |
Mammalia | COL4A2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL4A2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL4A2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL4A2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL4A2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col4a2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col4a2 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009200 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cg25C 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | let-2 36 34 |
|
||
| emb-9 36 |
|
|
- 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)
Paralogs for COL4A2 Gene
Paralogs for COL4A2 Gene
(10) SIMAP similar genes for COL4A2 Gene using alignment to 2 proteins:
Variants 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A2 Gene
Disorders for COL4A2 Gene
(7) MalaCards diseases for COL4A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| porencephaly 2 |
|
|
| hemorrhage, intracerebral |
|
|
| familial porencephaly |
|
|
| porencephaly |
|
|
| alport syndrome |
|
|
Search COL4A2 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for COL4A2 Gene
Publications for COL4A2 Gene
- Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PMID: 10625665) Kamphaus G.D. … Kalluri R. (J. Biol. Chem. 2000) 3 4 22 64
- 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 4 22 64
- 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 64
- 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 4 64
- COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. (PMID: 22209247) Jeanne M. … Gould D.B. (Am. J. Hum. Genet. 2012) 3 4 64
Products for COL4A2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for COL4A2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for COL4A2
- Search Origene for MassSpec and Protein Over-expression Lysates for COL4A2
- Origene Custom Protein Services for COL4A2
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A2
- Browse OriGene Inhibitory RNA Products For COL4A2
- OriGene qPCR primer pairs for COL4A2
- OriGene CRISPR knockouts for COL4A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL4A2
- GenScript: Next-day shipping cDNA ORF clone for COL4A2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for COL4A2
- GenScript Custom Assay Services for COL4A2
- GenScript Custom overexpressing Cell Line Services for COL4A2
- GenScript: Design CRISPR guide RNA sequences for COL4A2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for COL4A2
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for COL4A2
- Cloud-Clone Corp. Proteins for COL4A2
- Browse Assay Kits at Cloud-Clone Corp.
- Invitrogen Antibodies for COL4A2
- antibodies-online Antibodies for COL4A2: See all 28
- antibodies-online Kits for COL4A2: See all 10
- antibodies-online Proteins for COL4A2: See all 4
- Search antibodies-online for peptides
- GeneTex COL4A2 antibody for COL4A2
- Search GeneTex for Proteins for COL4A2
- ViGene Biosciences adenoviral particle packaged cDNA for COL4A2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for COL4A2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for COL4A2 gene
- Search ViGene Biosciences for COL4A2
- Santa Cruz Biotechnology (SCBT) Antibodies for COL4A2
- Search Santa Cruz Biotechnology (SCBT) for COL4A2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for COL4A2
- Horizon Cell Lines for COL4A2
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL4A2
- VectorBuilder custom plasmid, inducible vectors for COL4A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for COL4A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer