Details for: COL8A2

Gene ID: 1296

Symbol: COL8A2

Ensembl ID: ENSG00000171812

Description: collagen type VIII 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: corneal endothelial cell (CL0000132)
    Fold Change: 2.05
    Marker Score: 1197
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.32
    Marker Score: 2731
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7540
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.08
    Marker Score: 989
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.07
    Marker Score: 5264
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 791
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.02
    Marker Score: 3795
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.96
    Marker Score: 2434
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5336
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.87
    Marker Score: 1775
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.86
    Marker Score: 1881
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.79
    Marker Score: 1505
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.76
    Marker Score: 11828
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.62
    Marker Score: 201
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.57
    Marker Score: 131
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.53
    Marker Score: 1367
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.48
    Marker Score: 661
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.45
    Marker Score: 2744
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.43
    Marker Score: 210
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.42
    Marker Score: 10667
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.4
    Marker Score: 180
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.4
    Marker Score: 383
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.4
    Marker Score: 127
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.36
    Marker Score: 366
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.36
    Marker Score: 177
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.35
    Marker Score: 146
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.33
    Marker Score: 315
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.32
    Marker Score: 170
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.32
    Marker Score: 496
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.32
    Marker Score: 84
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.31
    Marker Score: 189
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.31
    Marker Score: 199
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.31
    Marker Score: 111
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.31
    Marker Score: 177
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.3
    Marker Score: 230
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.3
    Marker Score: 73
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.29
    Marker Score: 9952
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.29
    Marker Score: 674
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.28
    Marker Score: 134
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.28
    Marker Score: 302
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.26
    Marker Score: 109
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.25
    Marker Score: 463
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 72
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.24
    Marker Score: 110
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.24
    Marker Score: 59
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.23
    Marker Score: 100
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.22
    Marker Score: 609
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.22
    Marker Score: 1296
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.21
    Marker Score: 250
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.21
    Marker Score: 73
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.2
    Marker Score: 207
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.2
    Marker Score: 115
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.2
    Marker Score: 119
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.2
    Marker Score: 319
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.2
    Marker Score: 114
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.19
    Marker Score: 48
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.18
    Marker Score: 207
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.18
    Marker Score: 119
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.18
    Marker Score: 470
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.17
    Marker Score: 70
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.17
    Marker Score: 203
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.16
    Marker Score: 198
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.16
    Marker Score: 45
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.16
    Marker Score: 41
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.16
    Marker Score: 54
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.15
    Marker Score: 111
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.15
    Marker Score: 173
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.15
    Marker Score: 61
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.15
    Marker Score: 85
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.14
    Marker Score: 95
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.14
    Marker Score: 29
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.14
    Marker Score: 58
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.14
    Marker Score: 158
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.14
    Marker Score: 142
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.14
    Marker Score: 51
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.14
    Marker Score: 222.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 229
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.13
    Marker Score: 28
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.13
    Marker Score: 849
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.13
    Marker Score: 28
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.13
    Marker Score: 32
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.13
    Marker Score: 57
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.13
    Marker Score: 44
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.12
    Marker Score: 65
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.12
    Marker Score: 50
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.12
    Marker Score: 77
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.12
    Marker Score: 498

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Other Information

**Key characteristics:** * COL8A2 is a large protein (MW 180 kDa) that is expressed in the extracellular matrix (ECM) of tissues. * It is a secreted protein that is produced by epithelial cells and deposited into the ECM. * COL8A2 is a major component of the structural integrity of the skin, blood vessels, and other tissues. **Pathways and functions:** * COL8A2 is involved in the assembly of collagen fibrils and other multimeric structures. * It is a key component of the ECM, where it helps to maintain the structural integrity of tissues. * COL8A2 is also involved in cell-cell adhesion, as it is a component of cell adhesion complexes. * It is also involved in the regulation of angiogenesis, as it is expressed in blood vessels and is involved in the formation of new blood vessels. **Clinical significance:** * Mutations in COL8A2 have been linked to a number of human diseases, including corneal dystrophy, kidney disease, and cancer. * These diseases are characterized by the accumulation of abnormal collagen in the eye, kidney, and other tissues. * COL8A2 is a promising target for the treatment of these diseases, as it is a key component of the ECM that is involved in their formation. **Additional notes:** * COL8A2 is a highly conserved protein, with a similar sequence found in organisms from mice to humans. * It is a secreted protein, and its expression is regulated by a variety of factors, including growth factors, cytokines, and hormones. * COL8A2 is a relatively new protein, with the gene encoding it first described in 1994.

Genular Protein ID: 3812838396

Symbol: CO8A2_HUMAN

Name: Collagen alpha-2(VIII) chain

UniProtKB Accession Codes:

P25067 Q5JV31 Q8TEJ5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 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 1 RNAct 1 Reactome 5 RefSeq 2 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 2019595

Title: The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1.

PubMed ID: 2019595

DOI: 10.1016/s0021-9258(20)89508-8

PubMed ID: 1515454

Title: Cleavage of type VIII collagen by human neutrophil elastase.

PubMed ID: 1515454

DOI: 10.1016/0925-4439(92)90103-t

PubMed ID: 10686422

Title: The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo.

PubMed ID: 10686422

DOI: 10.1016/s0945-053x(99)00053-0

PubMed ID: 14990571

Title: Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.

PubMed ID: 14990571

DOI: 10.1074/jbc.m305805200

PubMed ID: 17888087

Title: Collagen type VIII expression in human diabetic nephropathy.

PubMed ID: 17888087

DOI: 10.1111/j.1365-2362.2007.01864.x

PubMed ID: 11689488

Title: Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

PubMed ID: 11689488

DOI: 10.1093/hmg/10.21.2415

PubMed ID: 15175909

Title: Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.

PubMed ID: 15175909

DOI: 10.1007/s10384-003-0063-6

Sequence Information:

  • Length: 703
  • Mass: 67244
  • Checksum: 84BD7CBDBDECD466
  • Sequence:
    • MLGTLTPLSS LLLLLLVLVL GCGPRASSGG GAGGAAGYAP VKYIQPMQKG PVGPPFREGK 
GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP GMGKPGLHGQ PGPAGPPGFS 
RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV 
PGPPGFQGEP GPQGEPGPPG DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG 
LDGLPGAPGD KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE 
PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE QGPQGLGGPP 
GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG LAGKPGVPGE RGLPGAHGPP 
GPTGPKGEPG FTGRPGGPGV AGALGQKGDL GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP 
GLKGEPGLPG PPGEGRAGEP GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG 
IAGLHLPNGG VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN 
GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE YKKGYLDQAS 
GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL CPT

Genular Protein ID: 3602165902

Symbol: E9PP49_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PP49

Database IDs:

ARBA 4 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 5 Ensembl 2 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 3 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 638
  • Mass: 60707
  • Checksum: EA6328BCD8888E45
  • Sequence:
    • MPLPLLPMDL KGEPGPPGKP GPRGPPGPPG FPGKPGMGKP GLHGQPGPAG PPGFSRMGKA 
GPPGLPGKVG PPGQPGLRGE PGIRGDQGLR GPPGPPGLPG PSGITIPGKP GAQGVPGPPG 
FQGEPGPQGE PGPPGDRGLK GDNGVGQPGL PGAPGQGGAP GPPGLPGPAG LGKPGLDGLP 
GAPGDKGESG PPGVPGPRGE PGAVGPKGPP GVDGVGVPGA AGLPGPQGPS GAKGEPGTRG 
PPGLIGPTGY GMPGLPGPKG DRGPAGVPGL LGDRGEPGED GEPGEQGPQG LGGPPGLPGS 
AGLPGRRGPP GPKGEAGPGG PPGVPGIRGD QGPSGLAGKP GVPGERGLPG AHGPPGPTGP 
KGEPGFTGRP GGPGVAGALG QKGDLGLPGQ PGLRGPSGIP GLQGPAGPIG PQGLPGLKGE 
PGLPGPPGEG RAGEPGTAGP TGPPGVPGSP GITGPPGPPG PPGPPGAPGA FDETGIAGLH 
LPNGGVEGAV LGKGGKPQFG LGELSAHATP AFTAVLTSPF PASGMPVKFD RTLYNGHSGY 
NPATGIFTCP VGGVYYFAYH VHVKGTNVWV ALYKNNVPAT YTYDEYKKGY LDQASGGAVL 
QLRPNDQVWV QMPSDQANGL YSTEYIHSSF SGFLLCPT

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.