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UniProtKB - P08572 (CO4A2_HUMAN)

Entry version 218 (12 Aug 2020)
Sequence version 4 (03 Apr 2007)
Previous versions | rss
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Protein

Collagen alpha-2(IV) chain

Gene

COL4A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAngiogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P08572

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1442490, Collagen degradation
R-HSA-1474244, Extracellular matrix organization
R-HSA-1650814, Collagen biosynthesis and modifying enzymes
R-HSA-186797, Signaling by PDGF
R-HSA-2022090, Assembly of collagen fibrils and other multimeric structures
R-HSA-216083, Integrin cell surface interactions
R-HSA-2214320, Anchoring fibril formation
R-HSA-2243919, Crosslinking of collagen fibrils
R-HSA-3000157, Laminin interactions
R-HSA-3000171, Non-integrin membrane-ECM interactions
R-HSA-3000178, ECM proteoglycans
R-HSA-3000480, Scavenging by Class A Receptors
R-HSA-419037, NCAM1 interactions
R-HSA-8948216, Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...SIGNORi		P08572

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-2(IV) chain
Cleaved into the following chain:
Canstatin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL4A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000134871.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:2203, COL4A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120090, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P08572

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Brain small vessel disease 2 (BSVD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0678371037G → E in BSVD2. 1 PublicationCorresponds to variant dbSNP:rs387906603EnsemblClinVar.1
Natural variantiVAR_0678381152G → D in BSVD2; incomplete penetrance. 1 PublicationCorresponds to variant dbSNP:rs387906602EnsemblClinVar.1
Intracerebral hemorrhage (ICH)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1284

MalaCards human disease database

More...MalaCardsi		COL4A2
MIMi614483, phenotype
614519, phenotype

Open Targets

More...OpenTargetsi		ENSG00000134871

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99810, Familial porencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26718

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P08572, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL4A2

Domain mapping of disease mutations (DMDM)

More...DMDMi		143811377

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Add BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000582426 – 183N-terminal propeptide (7S domain)Add BLAST158
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000005825184 – 1712Collagen alpha-2(IV) chainAdd BLAST1529
ChainiPRO_00002837751486 – 1712CanstatinAdd BLAST227

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi138N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi1504 ↔ 1593
Disulfide bondi1537 ↔ 1590
Disulfide bondi1549 ↔ 1555
Disulfide bondi1612 ↔ 1708
Disulfide bondi1646 ↔ 1705
Disulfide bondi1658 ↔ 1665

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
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.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.By similarity
Proteolytic processing produces the C-terminal NC1 peptide, canstatin.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P08572

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P08572

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P08572

MaxQB - The MaxQuant DataBase

More...MaxQBi		P08572

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P08572

PeptideAtlas

More...PeptideAtlasi		P08572

PRoteomics IDEntifications database

More...PRIDEi		P08572

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52123

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P08572, 2 sites, 2 O-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P08572

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P08572

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P08572

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134871, Expressed in placenta and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P08572, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P08572, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134871, Tissue enhanced (placenta)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107681, 43 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1723, Collagen type IV trimer variant 1

Protein interaction database and analysis system

More...IntActi		P08572, 36 interactors

Molecular INTeraction database

More...MINTi		P08572

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353654

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P08572, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11712
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P08572

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P08572

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1489 – 1712Collagen IV NC1PROSITE-ProRule annotationAdd BLAST224

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni184 – 1484Triple-helical regionAdd BLAST1301

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type IV collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3544, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157234

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002023_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P08572

KEGG Orthology (KO)

More...KOi		K06237

Identification of Orthologs from Complete Genome Data

More...OMAi		WYGENIK

Database of Orthologous Groups

More...OrthoDBi		63831at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P08572

TreeFam database of animal gene trees

More...TreeFami		TF344135

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.170.240.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008160, Collagen
IPR001442, Collagen_IV_NC
IPR036954, Collagen_IV_NC_sf
IPR016187, CTDL_fold

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01413, C4, 2 hits
PF01391, Collagen, 17 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00111, C4, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56436, SSF56436, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51403, NC1_IV, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P08572-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGRDQRAVAG PALRRWLLLG TVTVGFLAQS VLAGVKKFDV PCGGRDCSGG 
        60         70         80         90        100
CQCYPEKGGR GQPGPVGPQG YNGPPGLQGF PGLQGRKGDK GERGAPGVTG 
       110        120        130        140        150
PKGDVGARGV SGFPGADGIP GHPGQGGPRG RPGYDGCNGT QGDSGPQGPP 
       160        170        180        190        200
GSEGFTGPPG PQGPKGQKGE PYALPKEERD RYRGEPGEPG LVGFQGPPGR 
       210        220        230        240        250
PGHVGQMGPV GAPGRPGPPG PPGPKGQQGN RGLGFYGVKG EKGDVGQPGP 
       260        270        280        290        300
NGIPSDTLHP IIAPTGVTFH PDQYKGEKGS EGEPGIRGIS LKGEEGIMGF 
       310        320        330        340        350
PGLRGYPGLS GEKGSPGQKG SRGLDGYQGP DGPRGPKGEA GDPGPPGLPA 
       360        370        380        390        400
YSPHPSLAKG ARGDPGFPGA QGEPGSQGEP GDPGLPGPPG LSIGDGDQRR 
       410        420        430        440        450
GLPGEMGPKG FIGDPGIPAL YGGPPGPDGK RGPPGPPGLP GPPGPDGFLF 
       460        470        480        490        500
GLKGAKGRAG FPGLPGSPGA RGPKGWKGDA GECRCTEGDE AIKGLPGLPG 
       510        520        530        540        550
PKGFAGINGE PGRKGDRGDP GQHGLPGFPG LKGVPGNIGA PGPKGAKGDS 
       560        570        580        590        600
RTITTKGERG QPGVPGVPGM KGDDGSPGRD GLDGFPGLPG PPGDGIKGPP 
       610        620        630        640        650
GDPGYPGIPG TKGTPGEMGP PGLGLPGLKG QRGFPGDAGL PGPPGFLGPP 
       660        670        680        690        700
GPAGTPGQID CDTDVKRAVG GDRQEAIQPG CIGGPKGLPG LPGPPGPTGA 
       710        720        730        740        750
KGLRGIPGFA GADGGPGPRG LPGDAGREGF PGPPGFIGPR GSKGAVGLPG 
       760        770        780        790        800
PDGSPGPIGL PGPDGPPGER GLPGEVLGAQ PGPRGDAGVP GQPGLKGLPG 
       810        820        830        840        850
DRGPPGFRGS QGMPGMPGLK GQPGLPGPSG QPGLYGPPGL HGFPGAPGQE 
       860        870        880        890        900
GPLGLPGIPG REGLPGDRGD PGDTGAPGPV GMKGLSGDRG DAGFTGEQGH 
       910        920        930        940        950
PGSPGFKGID GMPGTPGLKG DRGSPGMDGF QGMPGLKGRP GFPGSKGEAG 
       960        970        980        990       1000
FFGIPGLKGL AGEPGFKGSR GDPGPPGPPP VILPGMKDIK GEKGDEGPMG 
      1010       1020       1030       1040       1050
LKGYLGAKGI QGMPGIPGLS GIPGLPGRPG HIKGVKGDIG VPGIPGLPGF 
      1060       1070       1080       1090       1100
PGVAGPPGIT GFPGFIGSRG DKGAPGRAGL YGEIGATGDF GDIGDTINLP 
      1110       1120       1130       1140       1150
GRPGLKGERG TTGIPGLKGF FGEKGTEGDI GFPGITGVTG VQGPPGLKGQ 
      1160       1170       1180       1190       1200
TGFPGLTGPP GSQGELGRIG LPGGKGDDGW PGAPGLPGFP GLRGIRGLHG 
      1210       1220       1230       1240       1250
LPGTKGFPGS PGSDIHGDPG FPGPPGERGD PGEANTLPGP VGVPGQKGDQ 
      1260       1270       1280       1290       1300
GAPGERGPPG SPGLQGFPGI TPPSNISGAP GDKGAPGIFG LKGYRGPPGP 
      1310       1320       1330       1340       1350
PGSAALPGSK GDTGNPGAPG TPGTKGWAGD SGPQGRPGVF GLPGEKGPRG 
      1360       1370       1380       1390       1400
EQGFMGNTGP TGAVGDRGPK GPKGDPGFPG APGTVGAPGI AGIPQKIAVQ 
      1410       1420       1430       1440       1450
PGTVGPQGRR GPPGAPGEMG PQGPPGEPGF RGAPGKAGPQ GRGGVSAVPG 
      1460       1470       1480       1490       1500
FRGDEGPIGH QGPIGQEGAP GRPGSPGLPG MPGRSVSIGY LLVKHSQTDQ 
      1510       1520       1530       1540       1550
EPMCPVGMNK LWSGYSLLYF EGQEKAHNQD LGLAGSCLAR FSTMPFLYCN 
      1560       1570       1580       1590       1600
PGDVCYYASR NDKSYWLSTT APLPMMPVAE DEIKPYISRC SVCEAPAIAI 
      1610       1620       1630       1640       1650
AVHSQDVSIP HCPAGWRSLW IGYSFLMHTA AGDEGGGQSL VSPGSCLEDF 
      1660       1670       1680       1690       1700
RATPFIECNG GRGTCHYYAN KYSFWLTTIP EQSFQGSPSA DTLKAGLIRT 
      1710 
HISRCQVCMK NL
Length:1,712
Mass (Da):167,553
Last modified:April 3, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0DABEEAB349D8AF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IS47A0A3B3IS47_HUMAN
Collagen alpha-2(IV) chain
COL4A2
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITQ8A0A3B3ITQ8_HUMAN
Collagen alpha-2(IV) chain
COL4A2
361Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A2A352A2A352_HUMAN
Collagen alpha-2(IV) chain
COL4A2
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WY39A0A087WY39_HUMAN
Collagen alpha-2(IV) chain
COL4A2
311Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IT80A0A3B3IT80_HUMAN
Collagen alpha-2(IV) chain
COL4A2
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITN7A0A3B3ITN7_HUMAN
Collagen alpha-2(IV) chain
COL4A2
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRV2A0A3B3IRV2_HUMAN
Collagen alpha-2(IV) chain
COL4A2
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IS04A0A3B3IS04_HUMAN
Collagen alpha-2(IV) chain
COL4A2
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti471R → P in CAA29076 (PubMed:3345760).Curated1
Sequence conflicti1041V → L in AAA52043 (PubMed:3692475).Curated1
Sequence conflicti1419M → I in CAA29098 (PubMed:3582677).Curated1
Sequence conflicti1575M → I in AAA58422 (PubMed:2439508).Curated1
Sequence conflicti1636G → V in AAA52043 (PubMed:3692475).Curated1
Sequence conflicti1663G → H AA sequence (PubMed:2844531).Curated1
Sequence conflicti1701H → G AA sequence (PubMed:2844531).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067551192V → F Polymorphism; does not affect COL4A2 and COL4A1 secretion. 2 PublicationsCorresponds to variant dbSNP:rs62621885EnsemblClinVar.1
Natural variantiVAR_048796517R → K3 PublicationsCorresponds to variant dbSNP:rs7990383EnsemblClinVar.1
Natural variantiVAR_048797683G → A3 PublicationsCorresponds to variant dbSNP:rs3803230EnsemblClinVar.1
Natural variantiVAR_067552701K → R Polymorphism; does not affect COL4A2 and COL4A1 secretion. 2 PublicationsCorresponds to variant dbSNP:rs78829338EnsemblClinVar.1
Natural variantiVAR_067836718P → S Polymorphism; does not affect COL4A2 and COL4A1 secretion. 2 PublicationsCorresponds to variant dbSNP:rs9583500EnsemblClinVar.1
Natural variantiVAR_0678371037G → E in BSVD2. 1 PublicationCorresponds to variant dbSNP:rs387906603EnsemblClinVar.1
Natural variantiVAR_0675531109R → Q Polymorphism; does not affect COL4A2 and COL4A1 secretion. 1 PublicationCorresponds to variant dbSNP:rs184812559EnsemblClinVar.1
Natural variantiVAR_0675541123E → G Associated with ICH susceptibility; results in a significantly decreased extracellular-to-intracellular ratio of COL4A2 and COL4A1 proteins, indicating interference with the proper secretion of both these proteins. 1 PublicationCorresponds to variant dbSNP:rs117412802EnsemblClinVar.1
Natural variantiVAR_0675551150Q → K Associated with ICH susceptibility; results in a significantly decreased extracellular-to-intracellular ratio of COL4A2 and COL4A1 proteins, indicating interference with the proper secretion of both these proteins. 1 PublicationCorresponds to variant dbSNP:rs62621875EnsemblClinVar.1
Natural variantiVAR_0678381152G → D in BSVD2; incomplete penetrance. 1 PublicationCorresponds to variant dbSNP:rs387906602EnsemblClinVar.1
Natural variantiVAR_0675561389G → R Probable disease-associated variant found in a family with porencephaly and small-vessel disease in the form of scattered white matter lesions; impairs COL4A2 and COL4A1 secretion; the mutant protein is retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_0675571399V → I2 PublicationsCorresponds to variant dbSNP:rs45520539EnsemblClinVar.1
Natural variantiVAR_0675581690A → T Associated with ICH susceptibility; results in a significantly decreased extracellular-to-intracellular ratio of COL4A2 and COL4A1 proteins, indicating interference with the proper secretion of both these proteins. 1 PublicationCorresponds to variant dbSNP:rs201105747EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL139385 Genomic DNA No translation available.
AL159153 Genomic DNA No translation available.
AL161773 Genomic DNA No translation available.
X05562 mRNA Translation: CAA29076.1
M36963 Genomic DNA Translation: AAA53099.1
J04217 Genomic DNA Translation: AAA53097.1
X12784 Genomic DNA Translation: CAA31275.1
M24766 mRNA Translation: AAA52043.1
X05610 mRNA Translation: CAA29098.1
BC080644 mRNA Translation: AAH80644.1
J02760 mRNA Translation: AAA58422.1
AF258350 mRNA Translation: AAF72631.1
AF400430 mRNA Translation: AAK92479.1
AY450357 mRNA Translation: AAR20245.1
AY455978 mRNA Translation: AAR18250.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41907.1

Protein sequence database of the Protein Information Resource

More...PIRi		A32024, CGHU2B

NCBI Reference Sequences

More...RefSeqi		NP_001837.2, NM_001846.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000360467; ENSP00000353654; ENSG00000134871

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1284

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1284

UCSC genome browser

More...UCSCi		uc001vqx.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139385 Genomic DNA No translation available.
AL159153 Genomic DNA No translation available.
AL161773 Genomic DNA No translation available.
X05562 mRNA Translation: CAA29076.1
M36963 Genomic DNA Translation: AAA53099.1
J04217 Genomic DNA Translation: AAA53097.1
X12784 Genomic DNA Translation: CAA31275.1
M24766 mRNA Translation: AAA52043.1
X05610 mRNA Translation: CAA29098.1
BC080644 mRNA Translation: AAH80644.1
J02760 mRNA Translation: AAA58422.1
AF258350 mRNA Translation: AAF72631.1
AF400430 mRNA Translation: AAK92479.1
AY450357 mRNA Translation: AAR20245.1
AY455978 mRNA Translation: AAR18250.1
CCDSiCCDS41907.1
PIRiA32024, CGHU2B
RefSeqiNP_001837.2, NM_001846.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LI1X-ray1.90C/F1485-1712[»]
5NAXX-ray2.82C/E1485-1712[»]
5NB2X-ray2.50A/B1485-1712[»]
6MPXX-ray1.90A1489-1709[»]
SMRiP08572
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107681, 43 interactors
ComplexPortaliCPX-1723, Collagen type IV trimer variant 1
IntActiP08572, 36 interactors
MINTiP08572
STRINGi9606.ENSP00000353654

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyGeniP08572, 2 sites, 2 O-linked glycans (1 site)
iPTMnetiP08572
PhosphoSitePlusiP08572
SwissPalmiP08572

Polymorphism and mutation databases

BioMutaiCOL4A2
DMDMi143811377

Proteomic databases

EPDiP08572
jPOSTiP08572
MassIVEiP08572
MaxQBiP08572
PaxDbiP08572
PeptideAtlasiP08572
PRIDEiP08572
ProteomicsDBi52123

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4381, 229 antibodies

Genome annotation databases

EnsembliENST00000360467; ENSP00000353654; ENSG00000134871
GeneIDi1284
KEGGihsa:1284
UCSCiuc001vqx.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1284
DisGeNETi1284
EuPathDBiHostDB:ENSG00000134871.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		COL4A2
HGNCiHGNC:2203, COL4A2
HPAiENSG00000134871, Tissue enhanced (placenta)
MalaCardsiCOL4A2
MIMi120090, gene
614483, phenotype
614519, phenotype
neXtProtiNX_P08572
OpenTargetsiENSG00000134871
Orphaneti99810, Familial porencephaly
PharmGKBiPA26718

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3544, Eukaryota
GeneTreeiENSGT00940000157234
HOGENOMiCLU_002023_1_0_1
InParanoidiP08572
KOiK06237
OMAiWYGENIK
OrthoDBi63831at2759
PhylomeDBiP08572
TreeFamiTF344135

Enzyme and pathway databases

PathwayCommonsiP08572
ReactomeiR-HSA-1442490, Collagen degradation
R-HSA-1474244, Extracellular matrix organization
R-HSA-1650814, Collagen biosynthesis and modifying enzymes
R-HSA-186797, Signaling by PDGF
R-HSA-2022090, Assembly of collagen fibrils and other multimeric structures
R-HSA-216083, Integrin cell surface interactions
R-HSA-2214320, Anchoring fibril formation
R-HSA-2243919, Crosslinking of collagen fibrils
R-HSA-3000157, Laminin interactions
R-HSA-3000171, Non-integrin membrane-ECM interactions
R-HSA-3000178, ECM proteoglycans
R-HSA-3000480, Scavenging by Class A Receptors
R-HSA-419037, NCAM1 interactions
R-HSA-8948216, Collagen chain trimerization
SIGNORiP08572

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1284, 8 hits in 876 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		COL4A2, human
EvolutionaryTraceiP08572

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		COL4A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1284
PharosiP08572, Tbio

Protein Ontology

More...PROi		PR:P08572
RNActiP08572, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134871, Expressed in placenta and 248 other tissues
ExpressionAtlasiP08572, baseline and differential
GenevisibleiP08572, HS

Family and domain databases

Gene3Di2.170.240.10, 1 hit
InterProiView protein in InterPro
IPR008160, Collagen
IPR001442, Collagen_IV_NC
IPR036954, Collagen_IV_NC_sf
IPR016187, CTDL_fold
PfamiView protein in Pfam
PF01413, C4, 2 hits
PF01391, Collagen, 17 hits
SMARTiView protein in SMART
SM00111, C4, 2 hits
SUPFAMiSSF56436, SSF56436, 2 hits
PROSITEiView protein in PROSITE
PS51403, NC1_IV, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO4A2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P08572
Secondary accession number(s): Q14052
, Q548C3, Q5VZA9, Q66K23
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: April 3, 2007
Last modified: August 12, 2020
This is version 218 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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