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UniProtKB - P12110 (CO6A2_HUMAN)

Protein

Collagen alpha-2(VI) chain

Gene

COL6A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Collagen VI acts as a cell-binding protein.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

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

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(VI) chain
Gene namesi
Name:COL6A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000142173.14
HGNCiHGNC:2212 COL6A2
MIMi120240 gene
neXtProtiNX_P12110

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

Pathology & Biotechi

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
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

DisGeNETi1292
GeneReviewsiCOL6A2
MalaCardsiCOL6A2
MIMi158810 phenotype
254090 phenotype
255600 phenotype
OpenTargetsiENSG00000142173
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
289380 Myosclerosis
PharmGKBiPA26728

Chemistry databases

ChEMBLiCHEMBL2364188

Polymorphism and mutation databases

BioMutaiCOL6A2
DMDMi125987812

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000000583221 – 1019Collagen alpha-2(VI) chainAdd BLAST999

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi140N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi630N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei701PhosphothreonineCombined sources1
Modified residuei705PhosphoserineCombined sources1
Glycosylationi785N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi897N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi954N-linked (GlcNAc...) asparagine1 Publication1

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

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

2D gel databases

REPRODUCTION-2DPAGEiP12110

PTM databases

GlyConnecti1137
iPTMnetiP12110
PhosphoSitePlusiP12110

Miscellaneous databases

PMAP-CutDBiP12110

Expressioni

Gene expression databases

BgeeiENSG00000142173 Expressed in 211 organ(s), highest expression level in esophagogastric junction muscularis propria
ExpressionAtlasiP12110 baseline and differential
GenevisibleiP12110 HS

Organism-specific databases

HPAiHPA007029
HPA030920
HPA038799

Interactioni

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

Binary interactionsi

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

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP12110
SMRiP12110
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 234VWFA 1PROSITE-ProRule annotationAdd BLAST189
Domaini615 – 805VWFA 2PROSITE-ProRule annotationAdd BLAST191
Domaini833 – 1014VWFA 3PROSITE-ProRule annotationAdd BLAST182

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni21 – 256Nonhelical regionAdd BLAST236
Regioni257 – 590Triple-helical regionAdd BLAST334
Regioni591 – 1019Nonhelical regionAdd BLAST429

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Belongs to the type VI collagen family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IS7F Eukaryota
ENOG410XT53 LUCA
GeneTreeiENSGT00820000126981
HOVERGENiHBG051051
InParanoidiP12110
KOiK06238
OMAiRALCNHD
OrthoDBiEOG091G020V
PhylomeDBiP12110
TreeFamiTF331207

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

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 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
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

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:
H7C0M5H7C0M5_HUMAN
Collagen alpha-2(VI) chain
COL6A2
250Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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

DNASUi1292
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

CTDi1292
DisGeNETi1292
EuPathDBiHostDB:ENSG00000142173.14
GeneCardsiCOL6A2
GeneReviewsiCOL6A2
H-InvDBiHIX0016186
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IS7F Eukaryota
ENOG410XT53 LUCA
GeneTreeiENSGT00820000126981
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

ChiTaRSiCOL6A2 human
GeneWikiiCOL6A2
GenomeRNAii1292
PMAP-CutDBiP12110
PROiPR:P12110
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiCO6A2_HUMAN
AccessioniPrimary (citable) accession number: P12110
Secondary accession number(s): Q13909
, Q13910, Q13911, Q14048, Q14049, Q16259, Q16597, Q6P0Q1, Q9UML3, Q9Y4S8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 210 of the entry and version 4 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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