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UniProtKB - P12110 (CO6A2_HUMAN)

Entry version 228 (07 Apr 2021)
Sequence version 4 (06 Feb 2007)
Previous versions | rss
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Protein

Collagen alpha-2(VI) chain

Gene

COL6A2

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

Collagen VI acts as a cell-binding protein.

<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 processCell adhesion

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P12110

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1442490, Collagen degradation
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-3000178, ECM proteoglycans
R-HSA-419037, NCAM1 interactions
R-HSA-8948216, Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...SIGNORi		P12110

<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(VI) chain
<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:COL6A2
<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 21

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2212, COL6A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120240, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P12110

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000142173.14

<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

Keywords - Cellular componenti

Extracellular matrix, Membrane, 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

Bethlem myopathy 1 (BTHLM1)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.
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_013589271G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912940EnsemblClinVar.1
Natural variantiVAR_013590621D → N in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606750EnsemblClinVar.1
Natural variantiVAR_058231700G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727418EnsemblClinVar.1
Natural variantiVAR_058233777C → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606747EnsemblClinVar.1
Natural variantiVAR_058241932P → L in BTHLM1; results in reduced intracellular collagen VI assembly and secretion. 1 PublicationCorresponds to variant dbSNP:rs117725825Ensembl.1
Ullrich congenital muscular dystrophy 1 (UCMD1)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058226283G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606748EnsemblClinVar.1
Natural variantiVAR_058228498R → H in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606749EnsemblClinVar.1
Natural variantiVAR_058230531G → R in UCMD1. 1 Publication1
Natural variantiVAR_058236837L → P in UCMD1; prevents collagen VI assembly. 1 PublicationCorresponds to variant dbSNP:rs1255514828Ensembl.1
Natural variantiVAR_058238876R → S in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs387906608EnsemblClinVar.1
Natural variantiVAR_058240897Missing in UCMD1; results in severe collagen VI matrix deficiencies. 1 Publication1
Myosclerosis autosomal recessive (MYOSAR)
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.
Related information in OMIM

Keywords - Diseasei

Congenital muscular dystrophy, Disease variant, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		1292

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		COL6A2

MalaCards human disease database

More...MalaCardsi		COL6A2
MIMi158810, phenotype
254090, phenotype
255600, phenotype

Open Targets

More...OpenTargetsi		ENSG00000142173

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

More...Orphaneti		610, Bethlem myopathy
75840, Congenital muscular dystrophy, Ullrich type
289380, Myosclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26728

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P12110, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364188

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL6A2

Domain mapping of disease mutations (DMDM)

More...DMDMi		125987812

<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 – 20Sequence analysisAdd BLAST20
<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_000000583221 – 1019Collagen alpha-2(VI) chainAdd BLAST999

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>Glycosylationi140N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi630N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei701PhosphothreonineCombined sources1
Modified residuei705PhosphoserineCombined sources1
Glycosylationi785N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi897N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi954N-linked (GlcNAc...) asparagine1 Publication1

<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.

Keywords - PTMi

Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P12110

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P12110

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P12110

MaxQB - The MaxQuant DataBase

More...MaxQBi		P12110

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

More...PaxDbi		P12110

PeptideAtlas

More...PeptideAtlasi		P12110

PRoteomics IDEntifications database

More...PRIDEi		P12110

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52830 [P12110-1]
52831 [P12110-2]
52832 [P12110-3]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P12110-3 [P12110-3]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		P12110

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1137, 52 N-Linked glycans (4 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P12110, 8 sites, 16 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P12110

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

More...PhosphoSitePlusi		P12110

<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		ENSG00000142173, Expressed in esophagogastric junction muscularis propria and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P12110, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P12110, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000142173, Low tissue specificity

<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

Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Interacts with CSPG4.

1 Publication

<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		107689, 41 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1736, Collagen type VI trimer

Protein interaction database and analysis system

More...IntActi		P12110, 31 interactors

Molecular INTeraction database

More...MINTi		P12110

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000300527

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P12110, 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

3D structure databases

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

More...SMRi		P12110

Database of comparative protein structure models

More...ModBasei		Search...

<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>Domaini46 – 234VWFA 1PROSITE-ProRule annotationAdd BLAST189
Domaini615 – 805VWFA 2PROSITE-ProRule annotationAdd BLAST191
Domaini833 – 1014VWFA 3PROSITE-ProRule annotationAdd BLAST182

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>Regioni21 – 256Nonhelical regionAdd BLAST236
Regioni257 – 590Triple-helical regionAdd BLAST334
Regioni591 – 1019Nonhelical regionAdd BLAST429

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi366 – 368Cell attachment siteSequence analysis3
Motifi426 – 428Cell attachment siteSequence analysis3
Motifi489 – 491Cell attachment siteSequence analysis3
Motifi498 – 500Cell attachment siteSequence analysis3
Motifi539 – 541Cell attachment siteSequence analysis3

<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 VI collagen family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3544, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155682

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009158_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P12110

Identification of Orthologs from Complete Genome Data

More...OMAi		CAIANMT

Database of Orthologous Groups

More...OrthoDBi		140989at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P12110

TreeFam database of animal gene trees

More...TreeFami		TF331207

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.410, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008160, Collagen
IPR002035, VWF_A
IPR036465, vWFA_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01391, Collagen, 4 hits
PF00092, VWA, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00327, VWA, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53300, SSF53300, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50234, VWFA, 3 hits

<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>Sequences (3+)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 describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2C2 (identifier: P12110-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLQGTCSVLL LWGILGAIQA QQQEVISPDT TERNNNCPEK TDCPIHVYFV 
        60         70         80         90        100
LDTSESVTMQ SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH 
       110        120        130        140        150
FSDQVEVFSP PGSDRASFIK NLQGISSFRR GTFTDCALAN MTEQIRQDRS 
       160        170        180        190        200
KGTVHFAVVI TDGHVTGSPC GGIKLQAERA REEGIRLFAV APNQNLKEQG 
       210        220        230        240        250
LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH EAYGECYKVS 
       260        270        280        290        300
CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK 
       310        320        330        340        350
GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN 
       360        370        380        390        400
RGPDGYPGEA GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG 
       410        420        430        440        450
APGSPGVKGA KGGPGPRGPK GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE 
       460        470        480        490        500
GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL GEPGKQGSRG DPGDAGPRGD 
       510        520        530        540        550
SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG DFGLKGEPGR 
       560        570        580        590        600
KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE 
       610        620        630        640        650
TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK 
       660        670        680        690        700
DPKSETGTRV GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG 
       710        720        730        740        750
TWTPSALKFA YDRLIKESRR QKTRVFAVVI TDGRHDPRDD DLNLRALCDR 
       760        770        780        790        800
DVTVTAIGIG DMFHEKHESE NLYSIACDKP QQVRNMTLFS DLVAEKFIDD 
       810        820        830        840        850
MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG SERLGEQNFH 
       860        870        880        890        900
KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA 
       910        920        930        940        950
IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG 
       960        970        980        990       1000
VTGNDSLHES AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK 
      1010 
DYDSLAQPGF FDRFIRWIC
Length:1,019
Mass (Da):108,579
Last modified:February 6, 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:i6C513ADE46C1D111
GO
Isoform 2C2A (identifier: P12110-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     821-991: ELSVAQCTQR...MDVLTTLSLG → DAPWPGGEPP...GDPETALALC
     992-1019: Missing.

Show »
Length:918
Mass (Da):97,419
Checksum:i336CB9B6FC8394D8
GO
Isoform 2C2A' (identifier: P12110-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     821-828: ELSVAQCT → GLDGAVLC
     829-1019: Missing.

Show »
Length:828
Mass (Da):87,280
Checksum:i9690A499C8E8827F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0M5H7C0M5_HUMAN
Collagen alpha-2(VI) chain
COL6A2
250Annotation 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>
C9JH44C9JH44_HUMAN
Collagen alpha-2(VI) chain
COL6A2
180Annotation 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 conflicti507K → S in AAB20836 (PubMed:1765372).Curated1
Sequence conflicti966 – 967KQ → NE in AAA52056 (Ref. 1) Curated2
Sequence conflicti966 – 967KQ → NE in AAA35620 (PubMed:1690728).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058225106E → K2 PublicationsCorresponds to variant dbSNP:rs141703710EnsemblClinVar.1
Natural variantiVAR_048801227D → N4 PublicationsCorresponds to variant dbSNP:rs35881321EnsemblClinVar.1
Natural variantiVAR_013589271G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912940EnsemblClinVar.1
Natural variantiVAR_058226283G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606748EnsemblClinVar.1
Natural variantiVAR_076959377R → C1 PublicationCorresponds to variant dbSNP:rs144801620EnsemblClinVar.1
Natural variantiVAR_030315399S → N6 PublicationsCorresponds to variant dbSNP:rs2839110EnsemblClinVar.1
Natural variantiVAR_076960446D → N1 PublicationCorresponds to variant dbSNP:rs535007570EnsemblClinVar.1
Natural variantiVAR_058227489R → Q1 PublicationCorresponds to variant dbSNP:rs61735828EnsemblClinVar.1
Natural variantiVAR_058228498R → H in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606749EnsemblClinVar.1
Natural variantiVAR_058229518P → S1 PublicationCorresponds to variant dbSNP:rs141166141EnsemblClinVar.1
Natural variantiVAR_058230531G → R in UCMD1. 1 Publication1
Natural variantiVAR_013590621D → N in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606750EnsemblClinVar.1
Natural variantiVAR_030316680R → H5 PublicationsCorresponds to variant dbSNP:rs1042917EnsemblClinVar.1
Natural variantiVAR_058231700G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727418EnsemblClinVar.1
Natural variantiVAR_058232724R → C1 PublicationCorresponds to variant dbSNP:rs150098077EnsemblClinVar.1
Natural variantiVAR_076961728V → M1 PublicationCorresponds to variant dbSNP:rs200585528EnsemblClinVar.1
Natural variantiVAR_058233777C → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606747EnsemblClinVar.1
Natural variantiVAR_058234784R → H1 PublicationCorresponds to variant dbSNP:rs75120695EnsemblClinVar.1
Natural variantiVAR_058235804V → G1 PublicationCorresponds to variant dbSNP:rs779847082Ensembl.1
Natural variantiVAR_058236837L → P in UCMD1; prevents collagen VI assembly. 1 PublicationCorresponds to variant dbSNP:rs1255514828Ensembl.1
Natural variantiVAR_076962843R → Q1 PublicationCorresponds to variant dbSNP:rs201736323EnsemblClinVar.1
Natural variantiVAR_058237853R → Q3 PublicationsCorresponds to variant dbSNP:rs144830948EnsemblClinVar.1
Natural variantiVAR_058238876R → S in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs387906608EnsemblClinVar.1
Natural variantiVAR_058239895S → R1 PublicationCorresponds to variant dbSNP:rs141233891EnsemblClinVar.1
Natural variantiVAR_058240897Missing in UCMD1; results in severe collagen VI matrix deficiencies. 1 Publication1
Natural variantiVAR_058241932P → L in BTHLM1; results in reduced intracellular collagen VI assembly and secretion. 1 PublicationCorresponds to variant dbSNP:rs117725825Ensembl.1
Natural variantiVAR_048802935G → R1 PublicationCorresponds to variant dbSNP:rs35548026EnsemblClinVar.1
Natural variantiVAR_0769631010F → C1 PublicationCorresponds to variant dbSNP:rs1051148162EnsemblClinVar.1
Natural variantiVAR_0488031015I → L. Corresponds to variant dbSNP:rs11910483EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001163821 – 991ELSVA…TLSLG → DAPWPGGEPPVTFLRTEEGP DATFPRTIPLIQQLLNATEL TQDPAAYSQLVAVLVYTAER AKFATGVERQDWMELFIDTF KLVHRDIVGDPETALALC in isoform 2C2A. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_001161821 – 828ELSVAQCT → GLDGAVLC in isoform 2C2A'. Curated8
Alternative sequenceiVSP_001162829 – 1019Missing in isoform 2C2A'. CuratedAdd BLAST191
Alternative sequenceiVSP_001164992 – 1019Missing in isoform 2C2A. 1 PublicationAdd BLAST28

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
AY029208 mRNA Translation: AAA52056.2
BC065509 mRNA Translation: AAH65509.1
M81835 Genomic DNA No translation available.
X15977 mRNA Translation: CAA34099.1
X06195 mRNA Translation: CAA29556.1
S75462 S75460 Genomic DNA Translation: AAB20836.1
M34572, M34571 mRNA Translation: AAA35618.1
M34572, M34571 mRNA Translation: AAA35619.1
M34573, M34571 mRNA Translation: AAA35620.1
M34570 mRNA Translation: AAA35621.1
AL096746 mRNA Translation: CAB46421.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13728.1 [P12110-1]
CCDS13729.1 [P12110-2]
CCDS13730.1 [P12110-3]

Protein sequence database of the Protein Information Resource

More...PIRi		S05378, CGHU2A
S09646
T12549

NCBI Reference Sequences

More...RefSeqi		NP_001840.3, NM_001849.3 [P12110-1]
NP_478054.2, NM_058174.2 [P12110-2]
NP_478055.2, NM_058175.2 [P12110-3]
XP_011527753.1, XM_011529451.1 [P12110-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000300527; ENSP00000300527; ENSG00000142173 [P12110-1]
ENST00000310645; ENSP00000312529; ENSG00000142173 [P12110-3]
ENST00000397763; ENSP00000380870; ENSG00000142173 [P12110-2]
ENST00000409416; ENSP00000387115; ENSG00000142173 [P12110-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1292

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1292

UCSC genome browser

More...UCSCi		uc002zhy.1, human [P12110-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY029208 mRNA Translation: AAA52056.2
BC065509 mRNA Translation: AAH65509.1
M81835 Genomic DNA No translation available.
X15977 mRNA Translation: CAA34099.1
X06195 mRNA Translation: CAA29556.1
S75462 S75460 Genomic DNA Translation: AAB20836.1
M34572, M34571 mRNA Translation: AAA35618.1
M34572, M34571 mRNA Translation: AAA35619.1
M34573, M34571 mRNA Translation: AAA35620.1
M34570 mRNA Translation: AAA35621.1
AL096746 mRNA Translation: CAB46421.2
CCDSiCCDS13728.1 [P12110-1]
CCDS13729.1 [P12110-2]
CCDS13730.1 [P12110-3]
PIRiS05378, CGHU2A
S09646
T12549
RefSeqiNP_001840.3, NM_001849.3 [P12110-1]
NP_478054.2, NM_058174.2 [P12110-2]
NP_478055.2, NM_058175.2 [P12110-3]
XP_011527753.1, XM_011529451.1 [P12110-1]

3D structure databases

SMRiP12110
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107689, 41 interactors
ComplexPortaliCPX-1736, Collagen type VI trimer
IntActiP12110, 31 interactors
MINTiP12110
STRINGi9606.ENSP00000300527

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyConnecti1137, 52 N-Linked glycans (4 sites)
GlyGeniP12110, 8 sites, 16 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)
iPTMnetiP12110
PhosphoSitePlusiP12110

Genetic variation databases

BioMutaiCOL6A2
DMDMi125987812

2D gel databases

REPRODUCTION-2DPAGEiP12110

Proteomic databases

EPDiP12110
jPOSTiP12110
MassIVEiP12110
MaxQBiP12110
PaxDbiP12110
PeptideAtlasiP12110
PRIDEiP12110
ProteomicsDBi52830 [P12110-1]
52831 [P12110-2]
52832 [P12110-3]
TopDownProteomicsiP12110-3 [P12110-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1646, 239 antibodies

The DNASU plasmid repository

More...DNASUi		1292

Genome annotation databases

EnsembliENST00000300527; ENSP00000300527; ENSG00000142173 [P12110-1]
ENST00000310645; ENSP00000312529; ENSG00000142173 [P12110-3]
ENST00000397763; ENSP00000380870; ENSG00000142173 [P12110-2]
ENST00000409416; ENSP00000387115; ENSG00000142173 [P12110-3]
GeneIDi1292
KEGGihsa:1292
UCSCiuc002zhy.1, human [P12110-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1292
DisGeNETi1292

GeneCards: human genes, protein and diseases

More...GeneCardsi		COL6A2
GeneReviewsiCOL6A2
HGNCiHGNC:2212, COL6A2
HPAiENSG00000142173, Low tissue specificity
MalaCardsiCOL6A2
MIMi120240, gene
158810, phenotype
254090, phenotype
255600, phenotype
neXtProtiNX_P12110
OpenTargetsiENSG00000142173
Orphaneti610, Bethlem myopathy
75840, Congenital muscular dystrophy, Ullrich type
289380, Myosclerosis
PharmGKBiPA26728
VEuPathDBiHostDB:ENSG00000142173.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3544, Eukaryota
GeneTreeiENSGT00940000155682
HOGENOMiCLU_009158_2_0_1
InParanoidiP12110
OMAiCAIANMT
OrthoDBi140989at2759
PhylomeDBiP12110
TreeFamiTF331207

Enzyme and pathway databases

PathwayCommonsiP12110
ReactomeiR-HSA-1442490, Collagen degradation
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-3000178, ECM proteoglycans
R-HSA-419037, NCAM1 interactions
R-HSA-8948216, Collagen chain trimerization
SIGNORiP12110

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1292, 7 hits in 987 CRISPR screens

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

More...ChiTaRSi		COL6A2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		COL6A2

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

More...GenomeRNAii		1292
PharosiP12110, Tbio

Protein Ontology

More...PROi		PR:P12110
RNActiP12110, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142173, Expressed in esophagogastric junction muscularis propria and 223 other tissues
ExpressionAtlasiP12110, baseline and differential
GenevisibleiP12110, HS

Family and domain databases

Gene3Di3.40.50.410, 3 hits
InterProiView protein in InterPro
IPR008160, Collagen
IPR002035, VWF_A
IPR036465, vWFA_dom_sf
PfamiView protein in Pfam
PF01391, Collagen, 4 hits
PF00092, VWA, 3 hits
SMARTiView protein in SMART
SM00327, VWA, 3 hits
SUPFAMiSSF53300, SSF53300, 3 hits
PROSITEiView protein in PROSITE
PS50234, VWFA, 3 hits

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 nameiCO6A2_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: P12110
Secondary accession number(s): Q13909
, Q13910, Q13911, Q14048, Q14049, Q16259, Q16597, Q6P0Q1, Q9UML3, Q9Y4S8
<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: October 1, 1989
Last sequence update: February 6, 2007
Last modified: April 7, 2021
This is version 228 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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