UniProtKB - P12110 (CO6A2_HUMAN)
Collagen alpha-2(VI) chain
COL6A2
Functioni
Collagen VI acts as a cell-binding protein.
GO - Molecular functioni
- collagen binding Source: MGI
- extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
GO - Biological processi
- cell adhesion Source: UniProtKB-KW
- response to glucose Source: Ensembl
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | P12110 |
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 |
SignaLinki | P12110 |
SIGNORi | P12110 |
Names & Taxonomyi
Protein namesi | Recommended name: Collagen alpha-2(VI) chain |
Gene namesi | Name:COL6A2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2212, COL6A2 |
MIMi | 120240, gene |
neXtProti | NX_P12110 |
VEuPathDBi | HostDB:ENSG00000142173 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix 1 Publication
Other locations
- Membrane 1 Publication; Peripheral membrane protein 1 Publication
Note: Recruited on membranes by CSPG4.
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: MGI
- extracellular space Source: BHF-UCL
- extracellular vesicle Source: UniProtKB
Plasma Membrane
- sarcolemma Source: Ensembl
Other locations
- collagen trimer Source: UniProtKB-KW
- collagen-containing extracellular matrix Source: UniProtKB
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Extracellular matrix, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Bethlem myopathy 1 (BTHLM1)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013589 | 271 | G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912940EnsemblClinVar. | 1 | |
Natural variantiVAR_013590 | 621 | D → N in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606750EnsemblClinVar. | 1 | |
Natural variantiVAR_058231 | 700 | G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727418EnsemblClinVar. | 1 | |
Natural variantiVAR_058233 | 777 | C → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606747EnsemblClinVar. | 1 | |
Natural variantiVAR_058241 | 932 | P → 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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058226 | 283 | G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606748EnsemblClinVar. | 1 | |
Natural variantiVAR_058228 | 498 | R → H in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606749EnsemblClinVar. | 1 | |
Natural variantiVAR_058230 | 531 | G → R in UCMD1. 1 Publication | 1 | |
Natural variantiVAR_058236 | 837 | L → P in UCMD1; prevents collagen VI assembly. 1 PublicationCorresponds to variant dbSNP:rs1255514828Ensembl. | 1 | |
Natural variantiVAR_058238 | 876 | R → S in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs387906608EnsemblClinVar. | 1 | |
Natural variantiVAR_058240 | 897 | Missing in UCMD1; results in severe collagen VI matrix deficiencies. 1 Publication | 1 |
Myosclerosis autosomal recessive (MYOSAR)
Keywords - Diseasei
Congenital muscular dystrophy, Disease variant, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 1292 |
GeneReviewsi | COL6A2 |
MalaCardsi | COL6A2 |
MIMi | 158810, phenotype 254090, phenotype 255600, phenotype |
OpenTargetsi | ENSG00000142173 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type 289380, Myosclerosis |
PharmGKBi | PA26728 |
Miscellaneous databases
Pharosi | P12110, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
Genetic variation databases
BioMutai | COL6A2 |
DMDMi | 125987812 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | Sequence analysisAdd BLAST | 20 | |
ChainiPRO_0000005832 | 21 – 1019 | Collagen alpha-2(VI) chainAdd BLAST | 999 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 140 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 327 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 630 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 701 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 705 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 785 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 897 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 954 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, Hydroxylation, PhosphoproteinProteomic databases
EPDi | P12110 |
jPOSTi | P12110 |
MassIVEi | P12110 |
MaxQBi | P12110 |
PaxDbi | P12110 |
PeptideAtlasi | P12110 |
PRIDEi | P12110 |
ProteomicsDBi | 52830 [P12110-1] 52831 [P12110-2] 52832 [P12110-3] |
TopDownProteomicsi | P12110-3 [P12110-3] |
2D gel databases
REPRODUCTION-2DPAGEi | P12110 |
PTM databases
GlyConnecti | 1137, 52 N-Linked glycans (4 sites) |
GlyGeni | P12110, 9 sites, 65 N-linked glycans (4 sites), 2 O-linked glycans (3 sites) |
iPTMneti | P12110 |
PhosphoSitePlusi | P12110 |
Expressioni
Gene expression databases
Bgeei | ENSG00000142173, Expressed in esophagogastric junction muscularis propria and 223 other tissues |
ExpressionAtlasi | P12110, baseline and differential |
Genevisiblei | P12110, HS |
Organism-specific databases
HPAi | ENSG00000142173, Low tissue specificity |
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 PublicationBinary interactionsi
P12110
With | #Exp. | IntAct |
---|---|---|
DISC1 [Q9NRI5] | 3 | EBI-928749,EBI-529989 |
Protein-protein interaction databases
BioGRIDi | 107689, 128 interactors |
ComplexPortali | CPX-1736, Collagen type VI trimer |
IntActi | P12110, 31 interactors |
MINTi | P12110 |
STRINGi | 9606.ENSP00000300527 |
Miscellaneous databases
RNActi | P12110, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 46 – 234 | VWFA 1PROSITE-ProRule annotationAdd BLAST | 189 | |
Domaini | 615 – 805 | VWFA 2PROSITE-ProRule annotationAdd BLAST | 191 | |
Domaini | 833 – 1014 | VWFA 3PROSITE-ProRule annotationAdd BLAST | 182 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 21 – 256 | Nonhelical regionAdd BLAST | 236 | |
Regioni | 257 – 590 | Triple-helical regionAdd BLAST | 334 | |
Regioni | 257 – 588 | DisorderedSequence analysisAdd BLAST | 332 | |
Regioni | 591 – 1019 | Nonhelical regionAdd BLAST | 429 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 366 – 368 | Cell attachment siteSequence analysis | 3 | |
Motifi | 426 – 428 | Cell attachment siteSequence analysis | 3 | |
Motifi | 489 – 491 | Cell attachment siteSequence analysis | 3 | |
Motifi | 498 – 500 | Cell attachment siteSequence analysis | 3 | |
Motifi | 539 – 541 | Cell attachment siteSequence analysis | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 543 – 558 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 559 – 584 | Pro residuesSequence analysisAdd BLAST | 26 |
Sequence similaritiesi
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000155682 |
HOGENOMi | CLU_009158_2_0_1 |
InParanoidi | P12110 |
OMAi | GNERQEW |
OrthoDBi | 140989at2759 |
PhylomeDBi | P12110 |
TreeFami | TF331207 |
Family and domain databases
Gene3Di | 3.40.50.410, 3 hits |
InterProi | View protein in InterPro IPR008160, Collagen IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF01391, Collagen, 4 hits PF00092, VWA, 3 hits |
SMARTi | View protein in SMART SM00327, VWA, 3 hits |
SUPFAMi | SSF53300, SSF53300, 3 hits |
PROSITEi | View protein in PROSITE PS50234, VWFA, 3 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
821-991: ELSVAQCTQR...MDVLTTLSLG → DAPWPGGEPP...GDPETALALC
992-1019: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
821-828: ELSVAQCT → GLDGAVLC
829-1019: Missing.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C0M5 | H7C0M5_HUMAN | Collagen alpha-2(VI) chain | COL6A2 | 250 | Annotation score: | ||
C9JH44 | C9JH44_HUMAN | Collagen alpha-2(VI) chain | COL6A2 | 180 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 507 | K → S in AAB20836 (PubMed:1765372).Curated | 1 | |
Sequence conflicti | 966 – 967 | KQ → NE in AAA52056 (Ref. 1) Curated | 2 | |
Sequence conflicti | 966 – 967 | KQ → NE in AAA35620 (PubMed:1690728).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058225 | 106 | E → K2 PublicationsCorresponds to variant dbSNP:rs141703710EnsemblClinVar. | 1 | |
Natural variantiVAR_048801 | 227 | D → N4 PublicationsCorresponds to variant dbSNP:rs35881321EnsemblClinVar. | 1 | |
Natural variantiVAR_013589 | 271 | G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs121912940EnsemblClinVar. | 1 | |
Natural variantiVAR_058226 | 283 | G → R in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606748EnsemblClinVar. | 1 | |
Natural variantiVAR_076959 | 377 | R → C1 PublicationCorresponds to variant dbSNP:rs144801620EnsemblClinVar. | 1 | |
Natural variantiVAR_030315 | 399 | S → N6 PublicationsCorresponds to variant dbSNP:rs2839110EnsemblClinVar. | 1 | |
Natural variantiVAR_076960 | 446 | D → N1 PublicationCorresponds to variant dbSNP:rs535007570EnsemblClinVar. | 1 | |
Natural variantiVAR_058227 | 489 | R → Q1 PublicationCorresponds to variant dbSNP:rs61735828EnsemblClinVar. | 1 | |
Natural variantiVAR_058228 | 498 | R → H in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs267606749EnsemblClinVar. | 1 | |
Natural variantiVAR_058229 | 518 | P → S1 PublicationCorresponds to variant dbSNP:rs141166141EnsemblClinVar. | 1 | |
Natural variantiVAR_058230 | 531 | G → R in UCMD1. 1 Publication | 1 | |
Natural variantiVAR_013590 | 621 | D → N in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606750EnsemblClinVar. | 1 | |
Natural variantiVAR_030316 | 680 | R → H5 PublicationsCorresponds to variant dbSNP:rs1042917EnsemblClinVar. | 1 | |
Natural variantiVAR_058231 | 700 | G → S in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs794727418EnsemblClinVar. | 1 | |
Natural variantiVAR_058232 | 724 | R → C1 PublicationCorresponds to variant dbSNP:rs150098077EnsemblClinVar. | 1 | |
Natural variantiVAR_076961 | 728 | V → M1 PublicationCorresponds to variant dbSNP:rs200585528EnsemblClinVar. | 1 | |
Natural variantiVAR_058233 | 777 | C → R in BTHLM1. 1 PublicationCorresponds to variant dbSNP:rs267606747EnsemblClinVar. | 1 | |
Natural variantiVAR_058234 | 784 | R → H1 PublicationCorresponds to variant dbSNP:rs75120695EnsemblClinVar. | 1 | |
Natural variantiVAR_058235 | 804 | V → G1 PublicationCorresponds to variant dbSNP:rs779847082Ensembl. | 1 | |
Natural variantiVAR_058236 | 837 | L → P in UCMD1; prevents collagen VI assembly. 1 PublicationCorresponds to variant dbSNP:rs1255514828Ensembl. | 1 | |
Natural variantiVAR_076962 | 843 | R → Q1 PublicationCorresponds to variant dbSNP:rs201736323EnsemblClinVar. | 1 | |
Natural variantiVAR_058237 | 853 | R → Q3 PublicationsCorresponds to variant dbSNP:rs144830948EnsemblClinVar. | 1 | |
Natural variantiVAR_058238 | 876 | R → S in UCMD1. 1 PublicationCorresponds to variant dbSNP:rs387906608EnsemblClinVar. | 1 | |
Natural variantiVAR_058239 | 895 | S → R1 PublicationCorresponds to variant dbSNP:rs141233891EnsemblClinVar. | 1 | |
Natural variantiVAR_058240 | 897 | Missing in UCMD1; results in severe collagen VI matrix deficiencies. 1 Publication | 1 | |
Natural variantiVAR_058241 | 932 | P → L in BTHLM1; results in reduced intracellular collagen VI assembly and secretion. 1 PublicationCorresponds to variant dbSNP:rs117725825EnsemblClinVar. | 1 | |
Natural variantiVAR_048802 | 935 | G → R1 PublicationCorresponds to variant dbSNP:rs35548026EnsemblClinVar. | 1 | |
Natural variantiVAR_076963 | 1010 | F → C1 PublicationCorresponds to variant dbSNP:rs1051148162EnsemblClinVar. | 1 | |
Natural variantiVAR_048803 | 1015 | I → L. Corresponds to variant dbSNP:rs11910483EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001163 | 821 – 991 | ELSVA…TLSLG → DAPWPGGEPPVTFLRTEEGP DATFPRTIPLIQQLLNATEL TQDPAAYSQLVAVLVYTAER AKFATGVERQDWMELFIDTF KLVHRDIVGDPETALALC in isoform 2C2A. 1 PublicationAdd BLAST | 171 | |
Alternative sequenceiVSP_001161 | 821 – 828 | ELSVAQCT → GLDGAVLC in isoform 2C2A'. Curated | 8 | |
Alternative sequenceiVSP_001162 | 829 – 1019 | Missing in isoform 2C2A'. CuratedAdd BLAST | 191 | |
Alternative sequenceiVSP_001164 | 992 – 1019 | Missing in isoform 2C2A. 1 PublicationAdd BLAST | 28 |
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 |
CCDSi | CCDS13728.1 [P12110-1] CCDS13729.1 [P12110-2] CCDS13730.1 [P12110-3] |
PIRi | S05378, CGHU2A S09646 T12549 |
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
Ensembli | ENST00000300527.9; ENSP00000300527.4; ENSG00000142173.16 ENST00000310645.9; ENSP00000312529.5; ENSG00000142173.16 [P12110-3] ENST00000397763.5; ENSP00000380870.1; ENSG00000142173.16 [P12110-2] ENST00000409416.6; ENSP00000387115.1; ENSG00000142173.16 [P12110-3] |
GeneIDi | 1292 |
KEGGi | hsa:1292 |
MANE-Selecti | ENST00000300527.9; ENSP00000300527.4; NM_001849.4; NP_001840.3 |
UCSCi | uc002zhy.1, human [P12110-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS13728.1 [P12110-1] CCDS13729.1 [P12110-2] CCDS13730.1 [P12110-3] |
PIRi | S05378, CGHU2A S09646 T12549 |
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] |
3D structure databases
AlphaFoldDBi | P12110 |
SMRi | P12110 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107689, 128 interactors |
ComplexPortali | CPX-1736, Collagen type VI trimer |
IntActi | P12110, 31 interactors |
MINTi | P12110 |
STRINGi | 9606.ENSP00000300527 |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
PTM databases
GlyConnecti | 1137, 52 N-Linked glycans (4 sites) |
GlyGeni | P12110, 9 sites, 65 N-linked glycans (4 sites), 2 O-linked glycans (3 sites) |
iPTMneti | P12110 |
PhosphoSitePlusi | P12110 |
Genetic variation databases
BioMutai | COL6A2 |
DMDMi | 125987812 |
2D gel databases
REPRODUCTION-2DPAGEi | P12110 |
Proteomic databases
EPDi | P12110 |
jPOSTi | P12110 |
MassIVEi | P12110 |
MaxQBi | P12110 |
PaxDbi | P12110 |
PeptideAtlasi | P12110 |
PRIDEi | P12110 |
ProteomicsDBi | 52830 [P12110-1] 52831 [P12110-2] 52832 [P12110-3] |
TopDownProteomicsi | P12110-3 [P12110-3] |
Protocols and materials databases
Antibodypediai | 1646, 251 antibodies from 31 providers |
DNASUi | 1292 |
Genome annotation databases
Ensembli | ENST00000300527.9; ENSP00000300527.4; ENSG00000142173.16 ENST00000310645.9; ENSP00000312529.5; ENSG00000142173.16 [P12110-3] ENST00000397763.5; ENSP00000380870.1; ENSG00000142173.16 [P12110-2] ENST00000409416.6; ENSP00000387115.1; ENSG00000142173.16 [P12110-3] |
GeneIDi | 1292 |
KEGGi | hsa:1292 |
MANE-Selecti | ENST00000300527.9; ENSP00000300527.4; NM_001849.4; NP_001840.3 |
UCSCi | uc002zhy.1, human [P12110-1] |
Organism-specific databases
CTDi | 1292 |
DisGeNETi | 1292 |
GeneCardsi | COL6A2 |
GeneReviewsi | COL6A2 |
HGNCi | HGNC:2212, COL6A2 |
HPAi | ENSG00000142173, Low tissue specificity |
MalaCardsi | COL6A2 |
MIMi | 120240, gene 158810, phenotype 254090, phenotype 255600, phenotype |
neXtProti | NX_P12110 |
OpenTargetsi | ENSG00000142173 |
Orphaneti | 610, Bethlem myopathy 75840, Congenital muscular dystrophy, Ullrich type 289380, Myosclerosis |
PharmGKBi | PA26728 |
VEuPathDBi | HostDB:ENSG00000142173 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000155682 |
HOGENOMi | CLU_009158_2_0_1 |
InParanoidi | P12110 |
OMAi | GNERQEW |
OrthoDBi | 140989at2759 |
PhylomeDBi | P12110 |
TreeFami | TF331207 |
Enzyme and pathway databases
PathwayCommonsi | P12110 |
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 |
SignaLinki | P12110 |
SIGNORi | P12110 |
Miscellaneous databases
BioGRID-ORCSi | 1292, 9 hits in 1066 CRISPR screens |
ChiTaRSi | COL6A2, human |
GeneWikii | COL6A2 |
GenomeRNAii | 1292 |
Pharosi | P12110, Tbio |
PROi | PR:P12110 |
RNActi | P12110, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142173, Expressed in esophagogastric junction muscularis propria and 223 other tissues |
ExpressionAtlasi | P12110, baseline and differential |
Genevisiblei | P12110, HS |
Family and domain databases
Gene3Di | 3.40.50.410, 3 hits |
InterProi | View protein in InterPro IPR008160, Collagen IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF01391, Collagen, 4 hits PF00092, VWA, 3 hits |
SMARTi | View protein in SMART SM00327, VWA, 3 hits |
SUPFAMi | SSF53300, SSF53300, 3 hits |
PROSITEi | View protein in PROSITE PS50234, VWFA, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CO6A2_HUMAN | |
Accessioni | P12110Primary (citable) accession number: P12110 Secondary accession number(s): Q13909 Q9Y4S8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | February 6, 2007 | |
Last modified: | May 25, 2022 | |
This is version 232 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families