COL4A2
entrez
1284
canonical
uniprot
P08572
canonical
ensembl
ENSG00000134871
resolver
ensp
ENSP00000353654
resolver
ensp
ENSP00000383027
resolver
ensp
ENSP00000577635
resolver
enst
ENST00000360467
resolver
enst
ENST00000400163
resolver
enst
ENST00000907576
resolver
genesymbol
COL4A2
resolver
hgnc
HGNC:2203
resolver
uniprot
Q14052
resolver
uniprot
Q548C3
resolver
uniprot
Q5VZA9
resolver
uniprot
Q66K23
resolver
uniprot_entry
CO4A2_HUMAN
resolver
uniprot_sec
Q14052
resolver
uniprot_sec
Q548C3
resolver
uniprot_sec
Q5VZA9
resolver
uniprot_sec
Q66K23
resolver
amino_acid_sequence
MGRDQRAVAGPALRRWLLLGTVTVGFLAQSVLAGVKKFDVPCGGRDCSGGCQCYPEKGGRGQPGPVGPQGYNGPPGLQGFPGLQGRKGDKGERGAPGVTGPKGDVGARGVSGFPGADGIPGHPGQGGPRGRPGYDGCNGTQGDSGPQGPPGSEGFTGPPGPQGPKGQKGEPYALPKEERDRYRGEPGEPGLVGFQGPPGRPGHVGQMGPVGAPGRPGPPGPPGPKGQQGNRGLGFYGVKGEKGDVGQPGPNGIPSDTLHPIIAPTGVTFHPDQYKGEKGSEGEPGIRGISLKGEEGIMGFPGLRGYPGLSGEKGSPGQKGSRGLDGYQGPDGPRGPKGEAGDPGPPGLPAYSPHPSLAKGARGDPGFPGAQGEPGSQGEPGDPGLPGPPGLSIGDGDQRRGLPGEMGPKGFIGDPGIPALYGGPPGPDGKRGPPGPPGLPGPPGPDGFLFGLKGAKGRAGFPGLPGSPGARGPKGWKGDAGECRCTEGDEAIKGLPGLPGPKGFAGINGEPGRKGDRGDPGQHGLPGFPGLKGVPGNIGAPGPKGAKGDSRTITTKGERGQPGVPGVPGMKGDDGSPGRDGLDGFPGLPGPPGDGIKGPPGDPGYPGIPGTKGTPGEMGPPGLGLPGLKGQRGFPGDAGLPGPPGFLGPPGPAGTPGQIDCDTDVKRAVGGDRQEAIQPGCIGGPKGLPGLPGPPGPTGAKGLRGIPGFAGADGGPGPRGLPGDAGREGFPGPPGFIGPRGSKGAVGLPGPDGSPGPIGLPGPDGPPGERGLPGEVLGAQPGPRGDAGVPGQPGLKGLPGDRGPPGFRGSQGMPGMPGLKGQPGLPGPSGQPGLYGPPGLHGFPGAPGQEGPLGLPGIPGREGLPGDRGDPGDTGAPGPVGMKGLSGDRGDAGFTGEQGHPGSPGFKGIDGMPGTPGLKGDRGSPGMDGFQGMPGLKGRPGFPGSKGEAGFFGIPGLKGLAGEPGFKGSRGDPGPPGPPPVILPGMKDIKGEKGDEGPMGLKGYLGAKGIQGMPGIPGLSGIPGLPGRPGHIKGVKGDIGVPGIPGLPGFPGVAGPPGITGFPGFIGSRGDKGAPGRAGLYGEIGATGDFGDIGDTINLPGRPGLKGERGTTGIPGLKGFFGEKGTEGDIGFPGITGVTGVQGPPGLKGQTGFPGLTGPPGSQGELGRIGLPGGKGDDGWPGAPGLPGFPGLRGIRGLHGLPGTKGFPGSPGSDIHGDPGFPGPPGERGDPGEANTLPGPVGVPGQKGDQGAPGERGPPGSPGLQGFPGITPPSNISGAPGDKGAPGIFGLKGYRGPPGPPGSAALPGSKGDTGNPGAPGTPGTKGWAGDSGPQGRPGVFGLPGEKGPRGEQGFMGNTGPTGAVGDRGPKGPKGDPGFPGAPGTVGAPGIAGIPQKIAVQPGTVGPQGRRGPPGAPGEMGPQGPPGEPGFRGAPGKAGPQGRGGVSAVPGFRGDEGPIGHQGPIGQEGAPGRPGSPGLPGMPGRSVSIGYLLVKHSQTDQEPMCPVGMNKLWSGYSLLYFEGQEKAHNQDLGLAGSCLARFSTMPFLYCNPGDVCYYASRNDKSYWLSTTAPLPMMPVAEDEIKPYISRCSVCEAPAIAIAVHSQDVSIPHCPAGWRSLWIGYSFLMHTAAGDEGGGQSLVSPGSCLEDFRATPFIECNGGRGTCHYYANKYSFWLTTIPEQSFQGSPSADTLKAGLIRTHISRCQVCMKNL
uniprot
proteins
disease_involvement
DISEASE: Brain small vessel disease 2A, autosomal dominant (BSVD2A) [MIM:614483]: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. {ECO:0000269|PubMed:22209246}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brain small vessel disease 2B, autosomal recessive (BSVD2B) [MIM:621414]: An autosomal recessive cerebrovascular disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, seizures, and spastic quadriplegia. Neurologic abnormalities appear in infancy or the first years of life. Brain imaging may show colpocephaly, brain atrophy, white matter abnormalities, and signs of vascular injury. {ECO:0000269|PubMed:33912663, ECO:0000269|PubMed:36603335}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
167553
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.; PTM: 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.; PTM: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. {ECO:0000250}.; PTM: Proteolytic processing produces the C-terminal NC1 peptide, canstatin.
uniprot
proteins
protein_family
Type IV collagen family
uniprot
proteins
pubmed
10625665
uniprot
proteins
pubmed
12011424
uniprot
proteins
pubmed
12876280
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15899827
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21527998
uniprot
proteins
pubmed
22209246
uniprot
proteins
pubmed
22209247
uniprot
proteins
pubmed
22333902
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2439508
uniprot
proteins
pubmed
2844531
uniprot
proteins
pubmed
2846280
uniprot
proteins
pubmed
3025878
uniprot
proteins
pubmed
3182844
uniprot
proteins
pubmed
3198637
uniprot
proteins
pubmed
32571911
uniprot
proteins
pubmed
3345760
uniprot
proteins
pubmed
33912663
uniprot
proteins
pubmed
34250229
uniprot
proteins
pubmed
3582677
uniprot
proteins
pubmed
36603335
uniprot
proteins
pubmed
3692475
uniprot
proteins
pubmed
8317999
uniprot
proteins
sequence_length
1712
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
uniprot
proteins