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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-Experimental evidence at protein leveli

Functioni

Collagen VI acts as a cell-binding protein.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142173-MONOMER.
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.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(VI) chain
Gene namesi
Name:COL6A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:2212. COL6A2.

Subcellular locationi

GO - Cellular componenti

  • collagen trimer Source: UniProtKB-KW
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: MGI
  • extracellular space Source: BHF-UCL
  • extracellular vesicle Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
  • protein complex Source: MGI
  • sarcolemma Source: Ensembl
Complete GO annotation...

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 rs121912940dbSNPEnsembl.1
Natural variantiVAR_013590621D → N in BTHLM1. 1 PublicationCorresponds to variant rs267606750dbSNPEnsembl.1
Natural variantiVAR_058231700G → S in BTHLM1. 1 PublicationCorresponds to variant rs794727418dbSNPEnsembl.1
Natural variantiVAR_058233777C → R in BTHLM1. 1 PublicationCorresponds to variant rs267606747dbSNPEnsembl.1
Natural variantiVAR_058241932P → L in BTHLM1; results in reduced intracellular collagen VI assembly and secretion. 1 PublicationCorresponds to variant rs117725825dbSNPEnsembl.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 rs267606748dbSNPEnsembl.1
Natural variantiVAR_058228498R → H in UCMD1. 1 PublicationCorresponds to variant rs267606749dbSNPEnsembl.1
Natural variantiVAR_058230531G → R in UCMD1. 1 Publication1
Natural variantiVAR_058234784R → H in UCMD1. 1 PublicationCorresponds to variant rs75120695dbSNPEnsembl.1
Natural variantiVAR_058236837L → P in UCMD1; prevents collagen VI assembly. 1 Publication1
Natural variantiVAR_058238876R → S in UCMD1. 1 PublicationCorresponds to variant rs387906608dbSNPEnsembl.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

Disease mutation

Organism-specific databases

DisGeNETi1292.
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...)1 Publication1
Glycosylationi327N-linked (GlcNAc...)Sequence analysis1
Glycosylationi630N-linked (GlcNAc...)Sequence analysis1
Modified residuei701PhosphothreonineCombined sources1
Modified residuei705PhosphoserineCombined sources1
Glycosylationi785N-linked (GlcNAc...)1 Publication1
Glycosylationi897N-linked (GlcNAc...)1 Publication1
Glycosylationi954N-linked (GlcNAc...)1 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.
TopDownProteomicsiP12110-3. [P12110-3]

2D gel databases

REPRODUCTION-2DPAGEP12110.

PTM databases

iPTMnetiP12110.
PhosphoSitePlusiP12110.

Miscellaneous databases

PMAP-CutDBP12110.

Expressioni

Gene expression databases

BgeeiENSG00000142173.
ExpressionAtlasiP12110. baseline and differential.
GenevisibleiP12110. HS.

Organism-specific databases

HPAiHPA007029.

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. 27 interactors.
IntActiP12110. 6 interactors.
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
Contains 3 VWFA domains.PROSITE-ProRule annotation

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.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 4 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]

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

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

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 → K.2 PublicationsCorresponds to variant rs141703710dbSNPEnsembl.1
Natural variantiVAR_048801227D → N.4 PublicationsCorresponds to variant rs35881321dbSNPEnsembl.1
Natural variantiVAR_013589271G → S in BTHLM1. 1 PublicationCorresponds to variant rs121912940dbSNPEnsembl.1
Natural variantiVAR_058226283G → R in UCMD1. 1 PublicationCorresponds to variant rs267606748dbSNPEnsembl.1
Natural variantiVAR_076959377R → C.1 Publication1
Natural variantiVAR_030315399S → N.6 PublicationsCorresponds to variant rs2839110dbSNPEnsembl.1
Natural variantiVAR_076960446D → N.1 Publication1
Natural variantiVAR_058227489R → Q.1 PublicationCorresponds to variant rs61735828dbSNPEnsembl.1
Natural variantiVAR_058228498R → H in UCMD1. 1 PublicationCorresponds to variant rs267606749dbSNPEnsembl.1
Natural variantiVAR_058229518P → S.1 PublicationCorresponds to variant rs141166141dbSNPEnsembl.1
Natural variantiVAR_058230531G → R in UCMD1. 1 Publication1
Natural variantiVAR_013590621D → N in BTHLM1. 1 PublicationCorresponds to variant rs267606750dbSNPEnsembl.1
Natural variantiVAR_030316680R → H.5 PublicationsCorresponds to variant rs1042917dbSNPEnsembl.1
Natural variantiVAR_058231700G → S in BTHLM1. 1 PublicationCorresponds to variant rs794727418dbSNPEnsembl.1
Natural variantiVAR_058232724R → C.1 PublicationCorresponds to variant rs150098077dbSNPEnsembl.1
Natural variantiVAR_076961728V → M.1 Publication1
Natural variantiVAR_058233777C → R in BTHLM1. 1 PublicationCorresponds to variant rs267606747dbSNPEnsembl.1
Natural variantiVAR_058234784R → H in UCMD1. 1 PublicationCorresponds to variant rs75120695dbSNPEnsembl.1
Natural variantiVAR_058235804V → G.1 PublicationCorresponds to variant rs779847082dbSNPEnsembl.1
Natural variantiVAR_058236837L → P in UCMD1; prevents collagen VI assembly. 1 Publication1
Natural variantiVAR_076962843R → Q.1 Publication1
Natural variantiVAR_058237853R → Q.3 PublicationsCorresponds to variant rs144830948dbSNPEnsembl.1
Natural variantiVAR_058238876R → S in UCMD1. 1 PublicationCorresponds to variant rs387906608dbSNPEnsembl.1
Natural variantiVAR_058239895S → R.1 PublicationCorresponds to variant rs141233891dbSNPEnsembl.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 rs117725825dbSNPEnsembl.1
Natural variantiVAR_048802935G → R.1 PublicationCorresponds to variant rs35548026dbSNPEnsembl.1
Natural variantiVAR_0769631010F → C.1 Publication1
Natural variantiVAR_0488031015I → L.Corresponds to variant rs11910483dbSNPEnsembl.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

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. 27 interactors.
IntActiP12110. 6 interactors.
STRINGi9606.ENSP00000300527.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiP12110.
PhosphoSitePlusiP12110.

Polymorphism and mutation databases

BioMutaiCOL6A2.
DMDMi125987812.

2D gel databases

REPRODUCTION-2DPAGEP12110.

Proteomic databases

EPDiP12110.
MaxQBiP12110.
PaxDbiP12110.
PeptideAtlasiP12110.
PRIDEiP12110.
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.
GeneCardsiCOL6A2.
GeneReviewsiCOL6A2.
H-InvDBHIX0016186.
HGNCiHGNC:2212. COL6A2.
HPAiHPA007029.
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

BioCyciZFISH:ENSG00000142173-MONOMER.
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.

Miscellaneous databases

ChiTaRSiCOL6A2. human.
GeneWikiiCOL6A2.
GenomeRNAii1292.
PMAP-CutDBP12110.
PROiP12110.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142173.
ExpressionAtlasiP12110. baseline and differential.
GenevisibleiP12110. HS.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR008160. Collagen.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 4 hits.
PF00092. VWA. 3 hits.
[Graphical view]
SMARTiSM00327. VWA. 3 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
PROSITEiPS50234. VWFA. 3 hits.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: February 6, 2007
Last modified: November 30, 2016
This is version 190 of the entry and version 4 of the sequence. [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. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.