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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL4A2 Gene

protein-coding GIFtS: 60
GCID: GC13P110958

collagen, type IV, alpha 2

Explore 34 diseases affiliated with
COL4A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Collagen, Type IV, Alpha 2¹ ²		POREN2²
DKFZp686I14213¹		Canstatin¹
FLJ22259¹		Collagen Alpha-2(IV) Chain²
ICH²

External Ids:	HGNC: 2203¹	Entrez Gene: 1284²	Ensembl: ENSG00000134871⁷	OMIM: 120090⁵	UniProtKB: P08572³

Export aliases for COL4A2 gene to outside databases

Previous GC identifers: GC13P109319 GC13P105346 GC13P109796 GC13P108657 GC13P109757 GC13P091559

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL4A2:

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)

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572

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

Gene Wiki entry for COL4A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_009952.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL4A2 gene promoter:
STAT1 STAT4 STAT1beta MIF-1 STAT5A STAT1alpha STAT2 Sox9 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL4A2 promoter sequence

Search SABiosciences Chromatin IP Primers for COL4A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL4A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q34 Ensembl cytogenetic band: 13q34 HGNC cytogenetic band: 13q34

COL4A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A2 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P110958: view genomic region (about GC identifiers)

Start:	110,958,159 bp from pter	End:	111,165,374 bp from pter
Size:	207,216 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572 (See protein sequence)

Recommended Name: Collagen alpha-2(IV) chain precursor

Size: 1712 amino acids; 167553 Da

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

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane

1 PDB 3D structure from and Proteopedia for COL4A2:

1LI1 (3D)

Secondary accessions: Q14052 Q548C3 Q5VZA9 Q66K23

Explore the universe of human proteins at neXtProt for COL4A2: NX_P08572

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

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 collagens¹

The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By similarity)¹

Proteolytic processing produces the C-terminal NC1 peptide, canstatin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08572

COL4A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001837.2

ENSEMBL proteins:

ENSP00000383027 ENSP00000353654

Reactome Protein details: P08572
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005587	collagen type IV	TAS	2846280
GO:0005604	basement membrane	--	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0031012	colocalizes with extracellular matrix	TAS	--

COL4A2 for ontologies About GeneDecksing

COL4A2 Antibody Products:

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	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for COL4A2

Assay Products for COL4A2:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for COL4A2
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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL4A2 for domains About GeneDecksing

3 InterPro domains/families:

IPR016187 C-type_lectin_fold

IPR001442 Collagen_VI_NC

IPR008160 Collagen

Graphical View of Domain Structure for InterPro Entry P08572

ProtoNet protein and cluster: P08572

3 Blocks protein families:

IPB001442 Type 4 procollagen

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572

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

Similarity: Belongs to the type IV collagen family

Similarity: Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572

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

Genatlas biochemistry entry for COL4A2:

collagen type IV,alpha 2,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin

development

miRNA Products:		miRTarBase miRNAs that target COL4A2: hsa-mir-29c (MIRT001926), hsa-mir-29a (MIRT003220)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL4A2
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A2 (see all 18):
		hsa-let-7d hsa-miR-202 hsa-miR-29a hsa-miR-29c hsa-miR-486-3p hsa-let-7c hsa-miR-3653 hsa-miR-512-3p

		SwitchGear 3'UTR luciferase reporter plasmid: COL4A2 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for COL4A2

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		GenScript: all cDNA clones in your preferred vector: COL4A2 (NM_001846)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	8317999
GO:0005515	protein binding	IPI	12011424

COL4A2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Col4a1/Col4a2^{Col4a1/tm1Epo} for COL4A2
     10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Col4a2):

cardiovascular system	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	mortality/aging	nervous system	other	vision/eye

COL4A2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Integrin outside-in signaling	0.37
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms	0.21
Cytoskeleton remodeling_Integrin outside-in signaling	0.37	Cell adhesion Endothelial cell contacts by non-junctional mechanisms	0.21

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Gelatin degradation by MMP19

	Gelatin degradation by MMP19	1.00			Anchoring fibril formation	0.39
	Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13	0.64

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for COL4A2 (see all 6)

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Integrin outside-in signaling
	Cell adhesion ECM remodeling
	Metalloproteases in connective tissue degradation
	Cell adhesion Plasmin signaling

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL4A2 (see all 15)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

5 GeneGo (Thomson Reuters) Pathways for COL4A2

	Cell adhesion Endothelial cell contacts by non-junctional mechanisms
	Cytoskeleton remodeling Integrin outside-in signaling
	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion ECM remodeling
	Cell adhesion Plasmin signaling

1 BioSystems Pathway for COL4A2

Focal Adhesion

5/17 Reactome Pathways for COL4A2 (see all 17)

	Developmental Biology
	Assembly of collagen fibrils and other multimeric structures
	Gelatin degradation by MMP19
	Anchoring fibril formation
	Extracellular matrix organization

1 PharmGKB Pathway for COL4A2

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

5/6 Kegg Pathways (Kegg details for COL4A2) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Protein digestion and absorption
	Amoebiasis
	Pathways in cancer

COL4A2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL4A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/99 Interacting proteins for COL4A2 (P08572^{1, 2, 3} ENSP00000353654⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 99)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMN1	Q16637²^,³	MINT-8270970 I2D: score=2
SMN2	Q16637²^,³	MINT-8270970 I2D: score=2
ATF7IP	Q6VMQ6²^,³	MINT-61931 I2D: score=3
SKIL	P12757²^,³	MINT-61694 I2D: score=3
ANXA7	P20073²^,³	MINT-8248153 I2D: score=2

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0007411	axon guidance	TAS	--
GO:0016525	negative regulation of angiogenesis	IDA	10625665
GO:0030198	extracellular matrix organization	TAS	--

COL4A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

COL4A2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL4A2
3 Novoseek chemical compound relationships for COL4A2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arresten	93.6	3	17182928 (1), 17602710 (1), 15936594 (1)
iptg	70.6	1	15592653 (1)
vegf	19.8	1	16685428 (1)

Search CenterWatch for drugs/clinical trials and news about COL4A2 / CO4A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL4A2 gene:

NM_001846.2

Unigene Cluster for COL4A2:

Collagen, type IV, alpha 2

Hs.508716 [show with all ESTs]

Unigene Representative Sequence: NM_001846

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000400163 ENST00000360467(uc001vqx.3) ENST00000480771 ENST00000462309

ENST00000478681 ENST00000494852 ENST00000483683 ENST00000480609 ENST00000463084

miRNA Products:		OriGene 3'-UTR Clone: COL4A2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL4A2
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A2 (see all 18):
		hsa-let-7d hsa-miR-202 hsa-miR-29a hsa-miR-29c hsa-miR-486-3p hsa-let-7c hsa-miR-3653 hsa-miR-512-3p

		SwitchGear 3'UTR luciferase reporter plasmid: COL4A2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL4A2

Additional cDNA sequence:

AF258350.1 AF400430.1 AK025912.1 AK294920.1 AY450357.1 AY455978.1 BC016166.1 BC035559.1

BC068210.1 BC080644.1 BX648393.1 J02760.1 M24766.1 NR_046583.1 X05562.1 X05610.1

24/29 DOTS entries (see all 29):

DT.102838716 DT.95252425 DT.100772424 DT.95369613 DT.97792245 DT.100030776 DT.102838714 DT.92026098

DT.120766853 DT.40252427 DT.120767003 DT.40222206 DT.85104996 DT.453387 DT.95369612 DT.120766941

DT.120766995 DT.120767000 DT.120766987 DT.120766988 DT.91739271 DT.92017258 DT.97790250 DT.100001157

24/663 AceView cDNA sequences (see all 663):

AW131166 AW469455 CK000715 AI540764 CR590491 AA284787 AL602477 AW016093

AA458478 AI924989 AW474292 AW016328 BM694396 AI093129 AI610523 BI752584

BF594094 BQ896432 AA976560 BI871611 CA407400 BE294488 H39498 AL046355

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL4A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

COL4A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Multinuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Multinuclear Myocytes

Skeletal Muscle

Anterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Cervical Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Back Muscles

Multinuclear Myocytes

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Multinuclear Myocytes

Skeletal Muscle

Pelvic Muscles

Multinuclear Myocytes

Skeletal Muscle

Posterior Neck Muscles

Multinuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

mK4 (Cell line)

Kidney

mK3 (Cell line)

Kidney

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

Extraembryonic endoderm-like cells (Generation of extrae...)

See COL4A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL4A2

SOURCE GeneReport for Unigene cluster: Hs.508716

SABiosciences Expression via Pathway-Focused PCR Arrays including COL4A2:

Extracellular Matrix & Adhesion Molecules in human mouse rat

Tumor Metastasis in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL4A2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COL4A2 gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL4A2¹	collagen, type IV, alpha 2	63.7(n) 64.65(a)		418752 NM_001162390.1 NP_001155862.1
lizard (Anolis carolinensis)	Reptilia	COL4A2⁶ COL4A4⁶	--	60(a) 44(a)	1 ↔ 1 possible ortholog	1(137350013-137419306) 3(23613320-23666873)
zebrafish (Danio rerio)	Actinopterygii	col4a2¹	collagen, type IV, alpha 2	56.18(n) 54.85(a)		553355 XM_682719.5 XP_687811.5
fruit fly (Drosophila melanogaster)	Insecta	Cg25C⁶ vkg⁶	viking	37(a) 31(a)	possible ortholog possible ortholog	2L(5029609-5037279) 2L(5012144-5028191)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL4A2 gene

COL4A6² COL19A1² COL11A2² COL4A5² COL24A1² COL4A4² COL5A3² COL1A1²

COL16A1² COL5A2² COL5A1² COL4A3² COL22A1² COL1A2² COL7A1² COL27A1²

COL2A1² COL3A1² COL4A1² COL11A1²

10 SIMAP similar genes for COL4A2 using alignment to 2 protein entries: CO4A2_HUMAN (see all proteins):

COL4A4 COL4A6 COL4A1 C1QTNF9 C1QTNF9B COL4A5

COL13A1 COL4A3 COL6A2 MARCO

COL4A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190303236^1,2		--	110961500(+)	`GATGTA/CAAACA`	1	--	int¹		0	--	--	--	--
rs181567445^1,2		--	110961669(+)	`TTTTCC/TTCCAG`	1	--	int¹		0	--	--	--	--
rs144503065^1,2		--	110961781(+)	`CATGTA/GAGACT`	1	--	int¹		0	--	--	--	--
rs112594395^1,2		--	110961813(+)	`AAGCAG/ATGCAT`	1	--	int¹		1		CSA	2
rs6492261^1,2	C,F,A,H,	--	110961842(+)	`ACTCAA/GAGAAG`	1	--	int¹ trp³		23		NS EA NA WA	2764
rs189807696^1,2	C,	--	110961860(+)	`TCCCTA/GGAAAA`	1	--	int¹		0	--	--	--	--
rs10562748^1,2	C,	--	110961867(+)	`AAAAT-/ACCACATC`	1	--	int¹		0	--	--	--	--
rs139802133^1,2		--	110961976(+)	`AGTCCC/TAGGTA`	1	--	int¹		0	--	--	--	--
rs112065344^1,2		--	110962000(+)	`TCATCG/CTAAAA`	1	--	int¹		1		CSA	2
rs56956968^1,2	C	--	110962074(+)	`TCACGC/TCTGTA`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for COL4A2 (110958159 - 111165374 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 17 variations for COL4A2
4 CNVs: 71786 101859 9233 66552
13 Indels: 25130 45119 101860 71784 41631 42686 101861 45120 71785 41912 45121 66553 25128
Human Gene Mutation Database (HGMD): COL4A2

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL4A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

COL4A2 for disorders About GeneDecksing

OMIM gene information: 120090 OMIM disorders: --

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572

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

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

20/34 diseases for COL4A2 (see all 34): About MalaCards

abdominal aortic aneurysm spastic hemiplegia aortic aneurysm oral squamous cell carcinoma

squamous cell carcinoma alport syndrome hemiplegia intrahepatic cholangiocarcinoma

ocular cancer bipolar disorder keratoconus gigantism

rheumatoid arthritis cholangiocarcinoma spasticity esophageal carcinoma

alzheimer's disease esophagitis arthritis pancreatic cancer

5 Novoseek disease relationships for COL4A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma	33.2	1	15974811 (1)
tumors	30.7	19	15120609 (3), 19838634 (3), 10625665 (3), 17557121 (2) (see all 10)
neovascularization	24.2	3	15120609 (1), 14680836 (1)
solid tumor	13.4	2	15120609 (1), 16630405 (1)
metastasis	0	1	15120609 (1)

Human Genome Epidemiology (HuGE) Navigator: COL4A2 (8 documents)

Export disorders for COL4A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for COL4A2 gene, integrated from 9 sources (see all 113):
(articles sorted by number of sources associating them with COL4A2)

Utopia: connect your pdf to the dynamic
world of online information

Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13. (PubMed id 3025878)^{1, 2, 3} Griffin C.A....Myers J.C. (1987)
Duplication of type IV collagen COOH-terminal repeats and species- specific expression of alpha 1(IV) and alpha 2(IV) collagen genes. (PubMed id 2439508)^{1, 2, 3} Myers J.C.... Macarak E.J. (1987)
Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PubMed id 10625665)^{1, 2, 9} Kamphaus G.D.... Kalluri R. (2000)
Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. (PubMed id 8317999)^{1, 2, 9} Fischer G.... Poeschl E. (1993)
COL4A2 mutation associated with familial porencephaly and small- vessel disease. (PubMed id 22333902)^{1, 2} Verbeek E.... Mancini G.M. (2012)
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. (PubMed id 22209246)^{1, 2} Yoneda Y.... Saitsu H. (2012)
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. (PubMed id 22209247)^{1, 2} Jeanne M....Gould D.B. (2012)
Sequence variants in COL4A1 and COL4A2 genes in Ecuad orian families with keratoconus. (PubMed id 21527998)^{1, 2} Karolak J.A....Gajecka M. (2011)
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2} Dunham A.... Ross M.T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1284	HGNC: 2203	AceView: COL4A2	Ensembl:ENSG00000134871	euGenes: HUgn1284
ECgene: COL4A2	Kegg: 1284	H-InvDB: COL4A2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COL4A2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for COL4A2	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for COL4A2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for COL4A2 gene:
Search GeneIP for patents involving COL4A2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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COL4A2 Gene

collagen, type IV, alpha 2

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COL4A2 Gene

collagen, type IV, alpha 2

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