COL4A2 | ENSG00000134871 | NCBI 1284

Details for: COL4A2

Gene ID: 1284

Symbol: COL4A2

Ensembl ID: ENSG00000134871

Description: collagen type IV alpha 2 chain

Associated with

Anchoring fibril formation
(R-HSA-2214320)
Assembly of collagen fibrils and other multimeric structures
(R-HSA-2022090)
Axon guidance
(R-HSA-422475)
Binding and uptake of ligands by scavenger receptors
(R-HSA-2173782)
Collagen biosynthesis and modifying enzymes
(R-HSA-1650814)
Collagen chain trimerization
(R-HSA-8948216)
Collagen degradation
(R-HSA-1442490)
Collagen formation
(R-HSA-1474290)
Crosslinking of collagen fibrils
(R-HSA-2243919)
Degradation of the extracellular matrix
(R-HSA-1474228)
Developmental biology
(R-HSA-1266738)
Ecm proteoglycans
(R-HSA-3000178)
Integrin cell surface interactions
(R-HSA-216083)
Laminin interactions
(R-HSA-3000157)
Ncam1 interactions
(R-HSA-419037)
Ncam signaling for neurite out-growth
(R-HSA-375165)
Nervous system development
(R-HSA-9675108)
Non-integrin membrane-ecm interactions
(R-HSA-3000171)
Scavenging by class a receptors
(R-HSA-3000480)
Signaling by pdgf
(R-HSA-186797)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Vesicle-mediated transport
(R-HSA-5653656)
Angiogenesis
(GO:0001525)
Basement membrane
(GO:0005604)
Cellular response to transforming growth factor beta stimulus
(GO:0071560)
Collagen-activated tyrosine kinase receptor signaling pathway
(GO:0038063)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen type iv trimer
(GO:0005587)
Dna-templated transcription
(GO:0006351)
Endodermal cell differentiation
(GO:0035987)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular exosome
(GO:0070062)
Extracellular matrix organization
(GO:0030198)
Extracellular matrix structural constituent
(GO:0005201)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Molecular adaptor activity
(GO:0060090)
Negative regulation of angiogenesis
(GO:0016525)
Protein binding
(GO:0005515)
Response to activity
(GO:0014823)

Other Information

Proteins

Canstatin

Genular Protein ID: 3149821679

Symbol: CO4A2_HUMAN

Name: Canstatin

UniProtKB Accession Codes:

P08572 Q14052 Q548C3 Q5VZA9 Q66K23

Database IDs:

Citations:

PubMed ID: 3198637

Title: The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain.

PubMed ID: 3198637

DOI: 10.1016/s0021-9258(19)77660-1

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 3345760

Title: Human basement membrane collagen (type IV). The amino acid sequence of the alpha 2(IV) chain and its comparison with the alpha 1(IV) chain reveals deletions in the alpha 1(IV) chain.

PubMed ID: 3345760

DOI: 10.1111/j.1432-1033.1988.tb13852.x

PubMed ID: 2846280

Title: The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.

PubMed ID: 2846280

DOI: 10.1002/j.1460-2075.1988.tb03122.x

PubMed ID: 3182844

Title: The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region.

PubMed ID: 3182844

DOI: 10.1016/s0021-9258(19)77818-1

PubMed ID: 8317999

Title: 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

DOI: 10.1042/bj2920687

PubMed ID: 3692475

Title: Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2).

PubMed ID: 3692475

DOI: 10.1007/bf00291418

PubMed ID: 3582677

Title: Nucleotide sequence coding for the human type IV collagen alpha 2 chain cDNA reveals extensive homology with the NC-1 domain of alpha 1 (IV) but not with the collagenous domain or 3'-untranslated region.

PubMed ID: 3582677

DOI: 10.1016/0014-5793(87)80706-8

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3025878

Title: 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

DOI: 10.1073/pnas.84.2.512

PubMed ID: 2844531

Title: The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen.

PubMed ID: 2844531

DOI: 10.1111/j.1432-1033.1988.tb14321.x

PubMed ID: 2439508

Title: 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

DOI: 10.1016/s0021-9258(18)48071-4

PubMed ID: 10625665

Title: Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth.

PubMed ID: 10625665

DOI: 10.1074/jbc.275.2.1209

PubMed ID: 12876280

Title: Canstatin inhibits Akt activation and induces Fas-dependent apoptosis in endothelial cells.

PubMed ID: 12876280

DOI: 10.1074/jbc.m307339200

PubMed ID: 15899827

Title: Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.

PubMed ID: 15899827

DOI: 10.1158/0008-5472.can-04-3536

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 32571911

Title: Peroxidasin-mediated bromine enrichment of basement membranes.

PubMed ID: 32571911

DOI: 10.1073/pnas.2007749117

PubMed ID: 12011424

Title: The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link.

PubMed ID: 12011424

DOI: 10.1073/pnas.062183499

PubMed ID: 21527998

Title: Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

PubMed ID: 21527998

PubMed ID: 22209246

Title: De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly.

PubMed ID: 22209246

DOI: 10.1016/j.ajhg.2011.11.016

PubMed ID: 22209247

Title: COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

PubMed ID: 22209247

DOI: 10.1016/j.ajhg.2011.11.022

PubMed ID: 22333902

Title: COL4A2 mutation associated with familial porencephaly and small-vessel disease.

PubMed ID: 22333902

DOI: 10.1038/ejhg.2012.20

Sequence Information:

Length: 1712
Mass: 167553
Checksum: E0DABEEAB349D8AF
Sequence:

MGRDQRAVAG PALRRWLLLG TVTVGFLAQS VLAGVKKFDV PCGGRDCSGG CQCYPEKGGR 
GQPGPVGPQG YNGPPGLQGF PGLQGRKGDK GERGAPGVTG PKGDVGARGV SGFPGADGIP 
GHPGQGGPRG RPGYDGCNGT QGDSGPQGPP GSEGFTGPPG PQGPKGQKGE PYALPKEERD 
RYRGEPGEPG LVGFQGPPGR PGHVGQMGPV GAPGRPGPPG PPGPKGQQGN RGLGFYGVKG 
EKGDVGQPGP NGIPSDTLHP IIAPTGVTFH PDQYKGEKGS EGEPGIRGIS LKGEEGIMGF 
PGLRGYPGLS GEKGSPGQKG SRGLDGYQGP DGPRGPKGEA GDPGPPGLPA YSPHPSLAKG 
ARGDPGFPGA QGEPGSQGEP GDPGLPGPPG LSIGDGDQRR GLPGEMGPKG FIGDPGIPAL 
YGGPPGPDGK RGPPGPPGLP GPPGPDGFLF GLKGAKGRAG FPGLPGSPGA RGPKGWKGDA 
GECRCTEGDE AIKGLPGLPG PKGFAGINGE PGRKGDRGDP GQHGLPGFPG LKGVPGNIGA 
PGPKGAKGDS RTITTKGERG QPGVPGVPGM KGDDGSPGRD GLDGFPGLPG PPGDGIKGPP 
GDPGYPGIPG TKGTPGEMGP PGLGLPGLKG QRGFPGDAGL PGPPGFLGPP GPAGTPGQID 
CDTDVKRAVG GDRQEAIQPG CIGGPKGLPG LPGPPGPTGA KGLRGIPGFA GADGGPGPRG 
LPGDAGREGF PGPPGFIGPR GSKGAVGLPG PDGSPGPIGL PGPDGPPGER GLPGEVLGAQ 
PGPRGDAGVP GQPGLKGLPG DRGPPGFRGS QGMPGMPGLK GQPGLPGPSG QPGLYGPPGL 
HGFPGAPGQE GPLGLPGIPG REGLPGDRGD PGDTGAPGPV GMKGLSGDRG DAGFTGEQGH 
PGSPGFKGID GMPGTPGLKG DRGSPGMDGF QGMPGLKGRP GFPGSKGEAG FFGIPGLKGL 
AGEPGFKGSR GDPGPPGPPP VILPGMKDIK GEKGDEGPMG LKGYLGAKGI QGMPGIPGLS 
GIPGLPGRPG HIKGVKGDIG VPGIPGLPGF PGVAGPPGIT GFPGFIGSRG DKGAPGRAGL 
YGEIGATGDF GDIGDTINLP GRPGLKGERG TTGIPGLKGF FGEKGTEGDI GFPGITGVTG 
VQGPPGLKGQ TGFPGLTGPP GSQGELGRIG LPGGKGDDGW PGAPGLPGFP GLRGIRGLHG 
LPGTKGFPGS PGSDIHGDPG FPGPPGERGD PGEANTLPGP VGVPGQKGDQ GAPGERGPPG 
SPGLQGFPGI TPPSNISGAP GDKGAPGIFG LKGYRGPPGP PGSAALPGSK GDTGNPGAPG 
TPGTKGWAGD SGPQGRPGVF GLPGEKGPRG EQGFMGNTGP TGAVGDRGPK GPKGDPGFPG 
APGTVGAPGI AGIPQKIAVQ PGTVGPQGRR GPPGAPGEMG PQGPPGEPGF RGAPGKAGPQ 
GRGGVSAVPG FRGDEGPIGH QGPIGQEGAP GRPGSPGLPG MPGRSVSIGY LLVKHSQTDQ 
EPMCPVGMNK LWSGYSLLYF EGQEKAHNQD LGLAGSCLAR FSTMPFLYCN PGDVCYYASR 
NDKSYWLSTT APLPMMPVAE DEIKPYISRC SVCEAPAIAI AVHSQDVSIP HCPAGWRSLW 
IGYSFLMHTA AGDEGGGQSL VSPGSCLEDF RATPFIECNG GRGTCHYYAN KYSFWLTTIP 
EQSFQGSPSA DTLKAGLIRT HISRCQVCMK NL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: COL4A2

Associated with

Other Information

The complete primary structure of the alpha 2 chain of human type IV collagen and comparison with the alpha 1(IV) chain. PubMed ID: 3198637

The DNA sequence and analysis of human chromosome 13. PubMed ID: 15057823

Human basement membrane collagen (type IV). The amino acid sequence of the alpha 2(IV) chain and its comparison with the alpha 1(IV) chain reveals deletions in the alpha 1(IV) chain. PubMed ID: 3345760

The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. PubMed ID: 2846280

The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. PubMed ID: 3182844

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

Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2). PubMed ID: 3692475

Nucleotide sequence coding for the human type IV collagen alpha 2 chain cDNA reveals extensive homology with the NC-1 domain of alpha 1 (IV) but not with the collagenous domain or 3'-untranslated region. PubMed ID: 3582677

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

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

The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen. PubMed ID: 2844531

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

Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. PubMed ID: 10625665

Canstatin inhibits Akt activation and induces Fas-dependent apoptosis in endothelial cells. PubMed ID: 12876280

Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins. PubMed ID: 15899827

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Peroxidasin-mediated bromine enrichment of basement membranes. PubMed ID: 32571911

The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link. PubMed ID: 12011424

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. PubMed ID: 21527998

De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. PubMed ID: 22209246

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. PubMed ID: 22209247

COL4A2 mutation associated with familial porencephaly and small-vessel disease. PubMed ID: 22333902