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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

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • extracellular matrix organization Source: Reactome
  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central
  • protein heterotrimerization Source: MGI
  • response to glucose Source: Ensembl

<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

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000142173.14

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

<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; Source: COMPARTMENTS

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 mutations 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.
See also OMIM:158810
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:rs117725825EnsemblClinVar.1
Ullrich congenital muscular dystrophy 1 (UCMD1)2 Publications
The disease is caused by mutations 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.
See also OMIM:254090
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_058234784R → H in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs75120695EnsemblClinVar.1
Natural variantiVAR_058236837L → P in UCMD1; prevents collagen VI assembly. 1 Publication1
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 mutations 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.
See also OMIM:255600

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation

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

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
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.<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_processing_section">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_processing_section">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

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EPDi
P12110

MaxQB - The MaxQuant DataBase

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MaxQBi
P12110

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

More...
PaxDbi
P12110

PeptideAtlas

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PeptideAtlasi
P12110

PRoteomics IDEntifications database

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PRIDEi
P12110

ProteomicsDB human proteome resource

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ProteomicsDBi
52830
52831 [P12110-2]
52832 [P12110-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
P12110-3 [P12110-3]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
P12110

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1137

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

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
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 211 organ(s), highest expression level in esophagogastric junction muscularis propria

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P12110 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12110 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007029
HPA030920
HPA038799

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
DISC1Q9NRI53EBI-928749,EBI-529989

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107689, 37 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1736 Collagen type VI trimer

Protein interaction database and analysis system

More...
IntActi
P12110, 8 interactors

Molecular INTeraction database

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MINTi
P12110

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000300527

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P12110

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

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SMRi
P12110

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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_and_domains_section">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
ENOG410IS7F Eukaryota
ENOG410XT53 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155682

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051051

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P12110

KEGG Orthology (KO)

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KOi
K06238

Identification of Orthologs from Complete Genome Data

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OMAi
RALCNHD

Database of Orthologous Groups

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OrthoDBi
EOG091G020V

Database for complete collections of gene phylogenies

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 'canonical' 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.

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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
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>
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>

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 → H in UCMD1. 1 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 Publication1
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:rs117725825EnsemblClinVar.1
Natural variantiVAR_048802935G → R1 PublicationCorresponds to variant dbSNP:rs35548026EnsemblClinVar.1
Natural variantiVAR_0769631010F → C1 PublicationCorresponds to variant dbSNP:rs1051148162Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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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
, S75425, S75428, S75430, S75432, S75434, S75436, S75438, S75440, S75442, S75444, S75446, S75448, S75450, S75452, S75454, S75456, S75458, 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

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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

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.420269

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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

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GeneIDi
1292

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1292

UCSC genome browser

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UCSCi
uc002zhy.1 human [P12110-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
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
, S75425, S75428, S75430, S75432, S75434, S75436, S75438, S75440, S75442, S75444, S75446, S75448, S75450, S75452, S75454, S75456, S75458, 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]
UniGeneiHs.420269

3D structure databases

ProteinModelPortaliP12110
SMRiP12110
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107689, 37 interactors
ComplexPortaliCPX-1736 Collagen type VI trimer
IntActiP12110, 8 interactors
MINTiP12110
STRINGi9606.ENSP00000300527

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyConnecti1137
iPTMnetiP12110
PhosphoSitePlusiP12110

Polymorphism and mutation databases

BioMutaiCOL6A2
DMDMi125987812

2D gel databases

REPRODUCTION-2DPAGEiP12110

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1292
Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000142173.14

GeneCards: human genes, protein and diseases

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GeneCardsi
COL6A2
GeneReviewsiCOL6A2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0016186
HGNCiHGNC:2212 COL6A2
HPAiHPA007029
HPA030920
HPA038799
MalaCardsiCOL6A2
MIMi120240 gene
158810 phenotype
254090 phenotype
255600 phenotype
neXtProtiNX_P12110
OpenTargetsiENSG00000142173
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
289380 Myosclerosis
PharmGKBiPA26728

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IS7F Eukaryota
ENOG410XT53 LUCA
GeneTreeiENSGT00940000155682
HOVERGENiHBG051051
InParanoidiP12110
KOiK06238
OMAiRALCNHD
OrthoDBiEOG091G020V
PhylomeDBiP12110
TreeFamiTF331207

Enzyme and pathway databases

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

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
PMAP-CutDBiP12110

Protein Ontology

More...
PROi
PR:P12110

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000142173 Expressed in 211 organ(s), highest expression level in esophagogastric junction muscularis propria
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...

<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_and_isoforms">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: December 5, 2018
This is version 211 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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