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P25067

- CO8A2_HUMAN

UniProt

P25067 - CO8A2_HUMAN

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Protein
Collagen alpha-2(VIII) chain
Gene
COL8A2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis By similarity.

GO - Molecular functioni

  1. extracellular matrix structural constituent Source: UniProtKB
  2. protein binding, bridging Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: UniProtKB-KW
  2. camera-type eye morphogenesis Source: Ensembl
  3. collagen catabolic process Source: Reactome
  4. epithelial cell proliferation Source: Ensembl
  5. extracellular matrix disassembly Source: Reactome
  6. extracellular matrix organization Source: UniProtKB
  7. single organismal cell-cell adhesion Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Angiogenesis, Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(VIII) chain
Alternative name(s):
Endothelial collagen
Gene namesi
Name:COL8A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:2216. COL8A2.

Subcellular locationi

GO - Cellular componenti

  1. basement membrane Source: UniProtKB
  2. collagen trimer Source: UniProtKB-KW
  3. endoplasmic reticulum lumen Source: Reactome
  4. extracellular region Source: Reactome
  5. proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti155 – 1551R → Q in FECD1; identified as a polymorphism in the Japanese population. 2 Publications
Corresponds to variant rs75864656 [ dbSNP | Ensembl ].
VAR_017894
Natural varianti304 – 3041R → Q in FECD1. 1 Publication
VAR_017895
Natural varianti357 – 3571G → R in FECD1; unknown pathological significance. 1 Publication
VAR_017896
Natural varianti434 – 4341R → H in FECD1. 1 Publication
Corresponds to variant rs201235688 [ dbSNP | Ensembl ].
VAR_017897
Natural varianti455 – 4551Q → K in FECD1 and PPCD2. 1 Publication
VAR_017898
Natural varianti575 – 5751P → L in FECD1; unknown pathological significance. 1 Publication
Corresponds to variant rs145553904 [ dbSNP | Ensembl ].
VAR_017899
Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti455 – 4551Q → K in FECD1 and PPCD2. 1 Publication
VAR_017898

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

MIMi136800. phenotype.
609140. phenotype.
Orphaneti98974. Fuchs endothelial corneal dystrophy.
98973. Posterior polymorphous corneal dystrophy.
PharmGKBiPA26732.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828 Reviewed prediction
Add
BLAST
Chaini29 – 703675Collagen alpha-2(VIII) chain
PRO_0000005835Add
BLAST

Post-translational modificationi

Proteolytically cleaved by neutrophil elastase, in vitro.1 Publication
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Keywords - PTMi

Hydroxylation

Proteomic databases

PaxDbiP25067.
PRIDEiP25067.

PTM databases

PhosphoSiteiP25067.

Expressioni

Tissue specificityi

Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane.2 Publications

Inductioni

Some up-regulation in diabetic nephropathy.1 Publication

Gene expression databases

ArrayExpressiP25067.
BgeeiP25067.
CleanExiHS_COL8A2.
GenevestigatoriP25067.

Organism-specific databases

HPAiHPA049788.

Interactioni

Subunit structurei

Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrhedron stabilized by central interacting C-terminal NC1 trimers.1 Publication

Protein-protein interaction databases

BioGridi107693. 1 interaction.
STRINGi9606.ENSP00000305913.

Structurei

3D structure databases

ProteinModelPortaliP25067.
SMRiP25067. Positions 575-702.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini570 – 703134C1q
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni29 – 7648Nonhelical region (NC2)
Add
BLAST
Regioni77 – 536460Triple-helical region
Add
BLAST
Regioni537 – 703167Nonhelical region (NC1)
Add
BLAST

Sequence similaritiesi

Contains 1 C1q domain.

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG114228.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiP25067.
OMAiAGPPFRE.
OrthoDBiEOG70ZZPW.
PhylomeDBiP25067.
TreeFamiTF334029.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiIPR001073. C1q.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamiPF00386. C1q. 1 hit.
PF01391. Collagen. 3 hits.
[Graphical view]
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiPS50871. C1Q. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P25067-1 [UniParc]FASTAAdd to Basket

« Hide

MLGTLTPLSS LLLLLLVLVL GCGPRASSGG GAGGAAGYAP VKYIQPMQKG    50
PVGPPFREGK GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP 100
GMGKPGLHGQ PGPAGPPGFS RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG 150
DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV PGPPGFQGEP GPQGEPGPPG 200
DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG LDGLPGAPGD 250
KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE 300
PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE 350
QGPQGLGGPP GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG 400
LAGKPGVPGE RGLPGAHGPP GPTGPKGEPG FTGRPGGPGV AGALGQKGDL 450
GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP GLKGEPGLPG PPGEGRAGEP 500
GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG IAGLHLPNGG 550
VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN 600
GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE 650
YKKGYLDQAS GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL 700
CPT 703
Length:703
Mass (Da):67,244
Last modified:March 15, 2004 - v2
Checksum:i84BD7CBDBDECD466
GO

Sequence cautioni

The sequence BAB84955.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31G → R.1 Publication
Corresponds to variant rs115156902 [ dbSNP | Ensembl ].
VAR_017893
Natural varianti155 – 1551R → Q in FECD1; identified as a polymorphism in the Japanese population. 2 Publications
Corresponds to variant rs75864656 [ dbSNP | Ensembl ].
VAR_017894
Natural varianti304 – 3041R → Q in FECD1. 1 Publication
VAR_017895
Natural varianti357 – 3571G → R in FECD1; unknown pathological significance. 1 Publication
VAR_017896
Natural varianti434 – 4341R → H in FECD1. 1 Publication
Corresponds to variant rs201235688 [ dbSNP | Ensembl ].
VAR_017897
Natural varianti455 – 4551Q → K in FECD1 and PPCD2. 1 Publication
VAR_017898
Natural varianti502 – 5021T → M.1 Publication
Corresponds to variant rs117860804 [ dbSNP | Ensembl ].
VAR_021387
Natural varianti575 – 5751P → L in FECD1; unknown pathological significance. 1 Publication
Corresponds to variant rs145553904 [ dbSNP | Ensembl ].
VAR_017899
Natural varianti645 – 6451T → I.1 Publication
Corresponds to variant rs200767854 [ dbSNP | Ensembl ].
VAR_017900

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti88 – 881R → W in AAA62822. 1 Publication
Sequence conflicti102 – 1021M → H in AAA62822. 1 Publication
Sequence conflicti133 – 1331K → N in AAA62822. 1 Publication
Sequence conflicti347 – 3471E → D in AAA62822. 1 Publication
Sequence conflicti377 – 3782PK → LR in AAA62822. 1 Publication
Sequence conflicti506 – 5061T → R in AAA62822. 1 Publication
Sequence conflicti523 – 5231P → L in AAA62822. 1 Publication
Sequence conflicti529 – 5313Missing in AAA62822. 1 Publication
Sequence conflicti585 – 5851F → L in AAA62822. 1 Publication
Sequence conflicti677 – 6771M → I in AAA62822. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK074129 mRNA. Translation: BAB84955.1. Different initiation.
AL138787 Genomic DNA. Translation: CAI22267.1.
CH471059 Genomic DNA. Translation: EAX07388.1.
M60832 Genomic DNA. Translation: AAA62822.1.
CCDSiCCDS403.1.
PIRiA57131.
RefSeqiNP_005193.1. NM_005202.2.
XP_005270535.1. XM_005270478.2.
UniGeneiHs.353001.

Genome annotation databases

EnsembliENST00000303143; ENSP00000305913; ENSG00000171812.
ENST00000397799; ENSP00000380901; ENSG00000171812.
GeneIDi1296.
KEGGihsa:1296.
UCSCiuc001bzv.2. human.

Polymorphism databases

DMDMi45644957.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK074129 mRNA. Translation: BAB84955.1 . Different initiation.
AL138787 Genomic DNA. Translation: CAI22267.1 .
CH471059 Genomic DNA. Translation: EAX07388.1 .
M60832 Genomic DNA. Translation: AAA62822.1 .
CCDSi CCDS403.1.
PIRi A57131.
RefSeqi NP_005193.1. NM_005202.2.
XP_005270535.1. XM_005270478.2.
UniGenei Hs.353001.

3D structure databases

ProteinModelPortali P25067.
SMRi P25067. Positions 575-702.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107693. 1 interaction.
STRINGi 9606.ENSP00000305913.

PTM databases

PhosphoSitei P25067.

Polymorphism databases

DMDMi 45644957.

Proteomic databases

PaxDbi P25067.
PRIDEi P25067.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303143 ; ENSP00000305913 ; ENSG00000171812 .
ENST00000397799 ; ENSP00000380901 ; ENSG00000171812 .
GeneIDi 1296.
KEGGi hsa:1296.
UCSCi uc001bzv.2. human.

Organism-specific databases

CTDi 1296.
GeneCardsi GC01M036563.
HGNCi HGNC:2216. COL8A2.
HPAi HPA049788.
MIMi 120252. gene.
136800. phenotype.
609140. phenotype.
neXtProti NX_P25067.
Orphaneti 98974. Fuchs endothelial corneal dystrophy.
98973. Posterior polymorphous corneal dystrophy.
PharmGKBi PA26732.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG114228.
HOGENOMi HOG000085653.
HOVERGENi HBG108220.
InParanoidi P25067.
OMAi AGPPFRE.
OrthoDBi EOG70ZZPW.
PhylomeDBi P25067.
TreeFami TF334029.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150401. Collagen degradation.

Miscellaneous databases

GeneWikii COL8A2.
GenomeRNAii 1296.
NextBioi 5261.
PROi P25067.
SOURCEi Search...

Gene expression databases

ArrayExpressi P25067.
Bgeei P25067.
CleanExi HS_COL8A2.
Genevestigatori P25067.

Family and domain databases

Gene3Di 2.60.120.40. 1 hit.
InterProi IPR001073. C1q.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view ]
Pfami PF00386. C1q. 1 hit.
PF01391. Collagen. 3 hits.
[Graphical view ]
PRINTSi PR00007. COMPLEMNTC1Q.
SMARTi SM00110. C1Q. 1 hit.
[Graphical view ]
SUPFAMi SSF49842. SSF49842. 1 hit.
PROSITEi PS50871. C1Q. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Spleen.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1."
    Muragaki Y., Jacenko O., Apte S., Mattei M.-G., Ninomiya Y., Olsen B.R.
    J. Biol. Chem. 266:7721-7727(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-703.
  5. Cited for: PROTEOLYTIC PROCESSING.
  6. "The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo."
    Greenhill N.S., Ruger B.M., Hasan Q., Davis P.F.
    Matrix Biol. 19:19-28(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers."
    Stephan S., Sherratt M.J., Hodson N., Shuttleworth C.A., Kielty C.M.
    J. Biol. Chem. 279:21469-21477(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  8. Cited for: TISSUE SPECIFICITY, INDUCTION.
  9. "Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy."
    Biswas S., Munier F.L., Yardley J., Hart-Holden N., Perveen R., Cousin P., Sutphin J.E., Noble B., Batterbury M., Kielty C., Hackett A., Bonshek R., Ridgway A., McLeod D., Sheffield V.C., Stone E.M., Schorderet D.F., Black G.C.M.
    Hum. Mol. Genet. 10:2415-2423(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FECD1 GLN-155; GLN-304; ARG-357; HIS-434; LYS-455 AND LEU-575, VARIANT PPCD2 LYS-455, VARIANTS ARG-3 AND ILE-645.
  10. "Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy."
    Kobayashi A., Fujiki K., Murakami A., Kato T., Chen L.-Z., Onoe H., Nakayasu K., Sakurai M., Takahashi M., Sugiyama K., Kanai A.
    Jpn. J. Ophthalmol. 48:195-198(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-155 AND MET-502.

Entry informationi

Entry nameiCO8A2_HUMAN
AccessioniPrimary (citable) accession number: P25067
Secondary accession number(s): Q5JV31, Q8TEJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: March 15, 2004
Last modified: September 3, 2014
This is version 138 of the entry and version 2 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, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

External Data

Dasty 3

Similar proteinsi