Details for: COL6A2

Gene ID: 1292

Symbol: COL6A2

Ensembl ID: ENSG00000142173

Description: collagen type VI alpha 2 chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 4.51
    Marker Score: 2549
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.31
    Marker Score: 146759
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 4.12
    Marker Score: 2713
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 3.96
    Marker Score: 3375
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 3.94
    Marker Score: 1022
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 3.6
    Marker Score: 1949
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 3.59
    Marker Score: 4940
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.56
    Marker Score: 46918
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 3.49
    Marker Score: 9124
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.47
    Marker Score: 22545
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 3.34
    Marker Score: 1390
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 3.33
    Marker Score: 1433
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 3.01
    Marker Score: 1715.5
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 2.95
    Marker Score: 3847
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.95
    Marker Score: 33218
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.88
    Marker Score: 3077
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 2.83
    Marker Score: 909
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.82
    Marker Score: 1068
  • Cell Name: theca cell (CL0000503)
    Fold Change: 2.8
    Marker Score: 2008
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.8
    Marker Score: 12077
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.72
    Marker Score: 5116
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 2.7
    Marker Score: 2611
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.66
    Marker Score: 1749
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 2.51
    Marker Score: 625
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 2.49
    Marker Score: 625
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.46
    Marker Score: 5799
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 2.45
    Marker Score: 552
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.38
    Marker Score: 2271
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.35
    Marker Score: 541
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 2.32
    Marker Score: 2859
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 2.28
    Marker Score: 646
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.28
    Marker Score: 8440
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 2.22
    Marker Score: 1404
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.2
    Marker Score: 1565
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 2.19
    Marker Score: 2065
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.18
    Marker Score: 775
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 2.18
    Marker Score: 617
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 2.12
    Marker Score: 3272
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.12
    Marker Score: 2436
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.99
    Marker Score: 506
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.97
    Marker Score: 1097
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.95
    Marker Score: 2072
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.95
    Marker Score: 1294
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.94
    Marker Score: 1135
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.88
    Marker Score: 552
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.86
    Marker Score: 4093
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.78
    Marker Score: 8751
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.64
    Marker Score: 404
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.62
    Marker Score: 1086
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.62
    Marker Score: 2836
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.59
    Marker Score: 3619
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.57
    Marker Score: 545
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.57
    Marker Score: 1142
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.57
    Marker Score: 4266
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.56
    Marker Score: 1681
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.54
    Marker Score: 2971
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.52
    Marker Score: 369
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 1.51
    Marker Score: 606
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.49
    Marker Score: 743
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.46
    Marker Score: 12774
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.44
    Marker Score: 1789
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.42
    Marker Score: 688
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.4
    Marker Score: 2288
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 1.38
    Marker Score: 363
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.37
    Marker Score: 307
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.31
    Marker Score: 2615
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.28
    Marker Score: 434
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.27
    Marker Score: 478
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 1.25
    Marker Score: 292
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.18
    Marker Score: 11889
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.15
    Marker Score: 1958
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.14
    Marker Score: 17872
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.05
    Marker Score: 6306
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.04
    Marker Score: 1849
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.03
    Marker Score: 532
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.03
    Marker Score: 2152
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71760
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47984.5
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 1
    Marker Score: 245
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.95
    Marker Score: 478
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.95
    Marker Score: 451
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 446
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.94
    Marker Score: 295.5
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.92
    Marker Score: 828
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.92
    Marker Score: 3838
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.9
    Marker Score: 361
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.89
    Marker Score: 556
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.89
    Marker Score: 438
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 315
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4979
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5260
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.85
    Marker Score: 221
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.84
    Marker Score: 221
  • Cell Name: adipose microvascular endothelial cell (CL2000072)
    Fold Change: 0.82
    Marker Score: 244
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.82
    Marker Score: 451
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.81
    Marker Score: 371

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Other Information

**Key characteristics** * COL6A2 is a secreted protein, meaning that it is not membrane-bound. * It is a large protein, with a molecular weight of approximately 140 kDa. * It is one of the most abundant extracellular matrix proteins. * It is a highly versatile protein that can interact with a variety of other proteins, including fibronectin, elastin, and proteoglycans. * It is involved in a variety of cellular processes, including cell migration, cell adhesion, and tissue remodeling. **Pathways and functions** COL6A2 is involved in a variety of cellular processes, including: * Cell migration: COL6A2 is a key component of the cell adhesion complex, which is responsible for the migration of cells. * Cell adhesion: COL6A2 is also involved in cell adhesion to extracellular matrix proteins. * Tissue remodeling: COL6A2 is a major component of the ECM, which is essential for tissue remodeling. * Cell signaling: COL6A2 is a signaling molecule that is involved in a variety of cellular processes, including cell migration and cell adhesion. **Clinical significance** Mutations in COL6A2 have been linked to a number of human diseases, including: * Marfan syndrome: COL6A2 is a major component of the ECM in blood vessels, and mutations in the COL6A2 gene can lead to the formation of fragile blood vessels that can lead to bleeding and stroke. * Heterotic interstitial pulmonary fibrosis: COL6A2 is also involved in the development of heterotic interstitial pulmonary fibrosis, a rare lung disease that is characterized by the formation of abnormal lung tissue. **Conclusion** COL6A2 is a key component of the extracellular matrix, where it helps to provide structural integrity and support for cells. Mutations in COL6A2 have been linked to a number of human diseases, highlighting the importance of this protein in human health.

Genular Protein ID: 1058156979

Symbol: CO6A2_HUMAN

Name: Collagen alpha-2(VI) chain

UniProtKB Accession Codes:

P12110 Q13909 Q13910 Q13911 Q14048 Q14049 Q16259 Q16597 Q6P0Q1 Q9UML3 Q9Y4S8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 32 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 3 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 8 RefSeq 4 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1556127

Title: Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon.

PubMed ID: 1556127

DOI: 10.1016/s0021-9258(18)42680-4

PubMed ID: 2551668

Title: Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus.

PubMed ID: 2551668

DOI: 10.1002/j.1460-2075.1989.tb03598.x

PubMed ID: 8168508

Title: Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI.

PubMed ID: 8168508

DOI: 10.1111/j.1432-1033.1994.tb18727.x

PubMed ID: 3665927

Title: Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones.

PubMed ID: 3665927

DOI: 10.1111/j.1432-1033.1987.tb13422.x

PubMed ID: 1765372

Title: The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar.

PubMed ID: 1765372

DOI: 10.1016/0888-7543(91)90111-q

PubMed ID: 6852033

Title: Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen).

PubMed ID: 6852033

DOI: 10.1111/j.1432-1033.1983.tb07427.x

PubMed ID: 3198591

Title: Amino acid sequence of the triple-helical domain of human collagen type VI.

PubMed ID: 3198591

DOI: 10.1016/s0021-9258(18)37327-7

PubMed ID: 3348212

Title: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

PubMed ID: 3348212

PubMed ID: 1690728

Title: Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini.

PubMed ID: 1690728

DOI: 10.1016/s0021-9258(19)39351-2

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 8305732

Title: Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface.

PubMed ID: 8305732

DOI: 10.1091/mbc.4.11.1097

PubMed ID: 9099729

Title: The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein.

PubMed ID: 9099729

DOI: 10.1074/jbc.272.16.10769

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8782832

Title: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

PubMed ID: 8782832

DOI: 10.1038/ng0996-113

PubMed ID: 11865138

Title: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PubMed ID: 11865138

DOI: 10.1212/wnl.58.4.593

PubMed ID: 15563506

Title: Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

PubMed ID: 15563506

DOI: 10.1093/hmg/ddi025

PubMed ID: 15689448

Title: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PubMed ID: 15689448

DOI: 10.1136/jmg.2004.023754

PubMed ID: 17886299

Title: Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PubMed ID: 17886299

DOI: 10.1002/ana.21213

PubMed ID: 18852439

Title: Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PubMed ID: 18852439

DOI: 10.1212/01.wnl.0000327611.01687.5e

PubMed ID: 23040494

Title: An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

PubMed ID: 23040494

DOI: 10.1016/j.ajhg.2012.08.017

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 1019
  • Mass: 108579
  • Checksum: 6C513ADE46C1D111
  • Sequence:
    • MLQGTCSVLL LWGILGAIQA QQQEVISPDT TERNNNCPEK TDCPIHVYFV LDTSESVTMQ 
SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH FSDQVEVFSP PGSDRASFIK 
NLQGISSFRR GTFTDCALAN MTEQIRQDRS KGTVHFAVVI TDGHVTGSPC GGIKLQAERA 
REEGIRLFAV APNQNLKEQG LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH 
EAYGECYKVS CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK 
GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN RGPDGYPGEA 
GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG APGSPGVKGA KGGPGPRGPK 
GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL 
GEPGKQGSRG DPGDAGPRGD SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG 
DFGLKGEPGR KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE 
TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK DPKSETGTRV 
GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG TWTPSALKFA YDRLIKESRR 
QKTRVFAVVI TDGRHDPRDD DLNLRALCDR DVTVTAIGIG DMFHEKHESE NLYSIACDKP 
QQVRNMTLFS DLVAEKFIDD MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG 
SERLGEQNFH KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA 
IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG VTGNDSLHES 
AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK DYDSLAQPGF FDRFIRWIC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.