LOCUS       NM_005202               4669 bp    mRNA    linear   PRI 18-APR-2022
DEFINITION  Homo sapiens collagen type VIII alpha 2 chain (COL8A2), transcript
            variant 1, mRNA.
ACCESSION   NM_005202 XM_005270478
VERSION     NM_005202.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4669)
  AUTHORS   Cheng YX, Xiao L, Yang YL, Liu XD, Zhou XR, Bu ZF, Cao PC and Wang
            DK.
  TITLE     Collagen type VIII alpha 2 chain (COL8A2), an important component
            of the basement membrane of the corneal endothelium, facilitates
            the malignant development of glioblastoma cells via inducing EMT
  JOURNAL   J Bioenerg Biomembr 53 (1), 49-59 (2021)
   PUBMED   33405048
  REMARK    GeneRIF: Collagen type VIII alpha 2 chain (COL8A2), an important
            component of the basement membrane of the corneal endothelium,
            facilitates the malignant development of glioblastoma cells via
            inducing EMT.
REFERENCE   2  (bases 1 to 4669)
  AUTHORS   Hwang JS, Ma DJ, Choi J and Shin YJ.
  TITLE     COL8A2 Regulates the Fate of Corneal Endothelial Cells
  JOURNAL   Invest Ophthalmol Vis Sci 61 (11), 26 (2020)
   PUBMED   32931574
  REMARK    GeneRIF: COL8A2 Regulates the Fate of Corneal Endothelial Cells.
REFERENCE   3  (bases 1 to 4669)
  AUTHORS   Naba A, Pearce OMT, Del Rosario A, Ma D, Ding H, Rajeeve V,
            Cutillas PR, Balkwill FR and Hynes RO.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   4  (bases 1 to 4669)
  AUTHORS   Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, Lei H and Guo Q.
  TITLE     Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences
            in a multi-generational family with late-onset Fuchs corneal
            dystrophy
  JOURNAL   Int J Mol Med 37 (6), 1487-1500 (2016)
   PUBMED   27121161
  REMARK    GeneRIF: Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene
            sequences in a multi-generational family with late-onset Fuchs
            corneal dystrophy found no evidence for found polymorophisms
            causing the disease in this specific pedigree.
REFERENCE   5  (bases 1 to 4669)
  AUTHORS   Eghrari AO, Riazuddin SA and Gottsch JD.
  TITLE     Distinct Clinical Phenotype of Corneal Dystrophy Predicts the
            p.(Leu450Trp) Substitution in COL8A2
  JOURNAL   Cornea 35 (5), 587-591 (2016)
   PUBMED   26989952
  REMARK    GeneRIF: Peripheral, anterior microcystic corneal edema represents
            a characteristic aspect of the phenotype associated with the
            p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known
            affected families worldwide.
REFERENCE   6  (bases 1 to 4669)
  AUTHORS   Greenhill NS, Ruger BM, Hasan Q and Davis PF.
  TITLE     The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct
            homotrimeric proteins in vivo
  JOURNAL   Matrix Biol 19 (1), 19-28 (2000)
   PUBMED   10686422
REFERENCE   7  (bases 1 to 4669)
  AUTHORS   Illidge C, Kielty C and Shuttleworth A.
  TITLE     The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can
            form stable homotrimeric molecules
  JOURNAL   J Biol Chem 273 (34), 22091-22095 (1998)
   PUBMED   9705353
REFERENCE   8  (bases 1 to 4669)
  AUTHORS   Shuttleworth CA.
  TITLE     Type VIII collagen
  JOURNAL   Int J Biochem Cell Biol 29 (10), 1145-1148 (1997)
   PUBMED   9438378
  REMARK    Review article
REFERENCE   9  (bases 1 to 4669)
  AUTHORS   Muragaki Y, Mattei MG, Yamaguchi N, Olsen BR and Ninomiya Y.
  TITLE     The complete primary structure of the human alpha 1 (VIII) chain
            and assignment of its gene (COL8A1) to chromosome 3
  JOURNAL   Eur J Biochem 197 (3), 615-622 (1991)
   PUBMED   2029894
REFERENCE   10 (bases 1 to 4669)
  AUTHORS   Muragaki Y, Jacenko O, Apte S, Mattei MG, Ninomiya Y and Olsen BR.
  TITLE     The alpha 2(VIII) collagen gene. A novel member of the short chain
            collagen family located on the human chromosome 1
  JOURNAL   J Biol Chem 266 (12), 7721-7727 (1991)
   PUBMED   2019595
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138787.11, HY025990.1,
            AK074129.1 and AI084614.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005202.3.
            
            Summary: This gene encodes the alpha 2 chain of type VIII collagen.
            This protein is a major component of the basement membrane of the
            corneal endothelium and forms homo- or heterotrimers with alpha 1
            (VIII) type collagens. Defects in this gene are associated with
            Fuchs endothelial corneal dystrophy and posterior polymorphous
            corneal dystrophy type 2. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372079.3792135.1,
                                           SRR14372080.4640982.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA2142348 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397799.2/ ENSP00000380901.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-138               AL138787.11        846-983
            139-220             HY025990.1         1-82
            221-2350            AK074129.1         1-2130
            2351-2351           AL138787.11        28511-28511
            2352-4663           AK074129.1         2132-4443
            4664-4669           AI084614.1         12-17               c
FEATURES             Location/Qualifiers
     source          1..4669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..4669
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /note="collagen type VIII alpha 2 chain"
                     /db_xref="GeneID:1296"
                     /db_xref="HGNC:HGNC:2216"
                     /db_xref="MIM:120252"
     exon            1..166
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /inference="alignment:Splign:2.1.0"
     exon            167..211
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /inference="alignment:Splign:2.1.0"
     exon            212..420
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..2339
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collagen alpha-2(VIII) chain; collagen VIII,
                     alpha-2 polypeptide; collagen, type VIII, alpha 2;
                     endothelial collagen"
                     /codon_start=1
                     /product="collagen alpha-2(VIII) chain isoform 1
                     precursor"
                     /protein_id="NP_005193.1"
                     /db_xref="CCDS:CCDS403.1"
                     /db_xref="GeneID:1296"
                     /db_xref="HGNC:HGNC:2216"
                     /db_xref="MIM:120252"
                     /translation="MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYI
                     QPMQKGPVGPPFREGKGQYLEMPLPLLPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGM
                     GKPGLHGQPGPAGPPGFSRMGKAGPPGLPGKVGPPGQPGLRGEPGIRGDQGLRGPPGP
                     PGLPGPSGITIPGKPGAQGVPGPPGFQGEPGPQGEPGPPGDRGLKGDNGVGQPGLPGA
                     PGQGGAPGPPGLPGPAGLGKPGLDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPG
                     VDGVGVPGAAGLPGPQGPSGAKGEPGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPG
                     LLGDRGEPGEDGEPGEQGPQGLGGPPGLPGSAGLPGRRGPPGPKGEAGPGGPPGVPGI
                     RGDQGPSGLAGKPGVPGERGLPGAHGPPGPTGPKGEPGFTGRPGGPGVAGALGQKGDL
                     GLPGQPGLRGPSGIPGLQGPAGPIGPQGLPGLKGEPGLPGPPGEGRAGEPGTAGPTGP
                     PGVPGSPGITGPPGPPGPPGPPGAPGAFDETGIAGLHLPNGGVEGAVLGKGGKPQFGL
                     GELSAHATPAFTAVLTSPFPASGMPVKFDRTLYNGHSGYNPATGIFTCPVGGVYYFAY
                     HVHVKGTNVWVALYKNNVPATYTYDEYKKGYLDQASGGAVLQLRPNDQVWVQMPSDQA
                     NGLYSTEYIHSSFSGFLLCPT"
     exon            421..4669
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4647..4652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /note="hexamer: AATAAA"
     polyA_site      4669
                     /gene="COL8A2"
                     /gene_synonym="FECD; FECD1; PPCD; PPCD2"
                     /note="major polyA site"
ORIGIN      
        1 actccggcag ccgcgagggg cggccggcag agcgacgcgg aaccccgccg gcgcggaccc
       61 cggaccccaa cgccgcccgc ccagccgcgg acgcccctgc ccggagccct cgccgcccgg
      121 gccgccctcg agggccggga gcggcgcccg gcggccgcgc ccgcaggccc tgcctctgct
      181 ggaaccttcc caggcccctc cgacctgaaa gcacgtccac ggacgccatg ctggggactc
      241 tgacacccct gtcttcgctg ctgctgctgc tactggtgct ggtgctgggg tgtgggccgc
      301 gggcgtcctc tggtggcggg gccggtgggg cggcgggcta tgccccagtg aagtacatcc
      361 agcccatgca gaaaggacct gtgggaccgc ccttccgtga gggcaaaggc cagtacctgg
      421 aaatgcctct accgctgctg ccgatggacc tgaagggaga gcccggcccc cctgggaagc
      481 ccgggcctcg gggtccccct ggcccccctg gcttcccagg aaaaccaggc atgggaaagc
      541 caggactcca tgggcagcct ggccctgctg ggccccctgg cttctcccgg atgggcaagg
      601 ctggtccccc agggctccct ggcaaggtcg ggccaccagg gcagccgggg cttcgggggg
      661 agccaggaat acgaggggac cagggcctcc ggggaccccc aggaccccct ggcctcccgg
      721 gcccctcagg cattactatc cctggaaaac caggtgccca aggggtgcca gggcccccag
      781 gattccaggg ggaaccaggg ccccaggggg agcctgggcc cccaggtgat cgaggcctca
      841 agggggataa tggagtgggc cagcccgggc tgcctggggc cccagggcag gggggtgccc
      901 ccggcccccc cggcctccct ggtccagctg gcttaggcaa acctggtttg gatgggcttc
      961 ctggggcccc aggagacaag ggtgagtctg ggcctcctgg agttccaggc cccagggggg
     1021 agccaggagc tgtgggccca aaaggacctc ctggagtaga cggtgtggga gtcccagggg
     1081 cagcagggtt gccaggacca cagggcccat caggggccaa aggggagcca gggacccggg
     1141 gcccccctgg gctgataggc cccactggct atgggatgcc aggactgcca ggccccaagg
     1201 gggacagggg cccagctggg gtcccaggac tcttggggga caggggtgag ccaggggagg
     1261 atggggagcc aggggagcag ggcccacagg gtcttggggg tccccctgga cttcctgggt
     1321 ctgcagggct tcctggcaga cgtgggcccc ctgggcctaa gggtgaggca gggcctggag
     1381 gacccccagg agtgcctggc attcgaggtg accaggggcc tagtggcctg gctgggaaac
     1441 caggggtccc aggtgagagg ggacttcctg gggcccatgg accccctgga ccaactgggc
     1501 ccaagggtga gccgggtttc acgggtcgcc ctggaggacc aggggtggca ggagccctgg
     1561 ggcagaaagg tgacttgggg ctccctgggc agcctggcct gaggggtccc tcaggaatcc
     1621 caggactcca gggtccagct ggccctattg ggccccaagg cctgccgggc ctgaaggggg
     1681 aaccaggcct gccagggccc cctggagagg ggagagcagg ggaacctggc acggctgggc
     1741 ccacggggcc cccaggggtc cctggctccc ctggaatcac gggccctccg gggcctcccg
     1801 ggcccccggg accccctggt gcccctgggg ccttcgatga gactggcatc gcaggcttgc
     1861 acctgcccaa cggcggtgtg gagggtgccg tgctgggcaa ggggggcaag ccacagtttg
     1921 ggctgggcga gctgtctgcc catgccacac cggccttcac tgcggtgctc acctcgccct
     1981 tccccgcctc gggcatgccc gtgaaatttg accggactct ctacaatggc cacagcggct
     2041 acaacccagc cactggcatc ttcacctgcc ctgtgggcgg cgtctactac tttgcttacc
     2101 atgtgcacgt caagggcacc aacgtgtggg tggccctgta caagaacaac gtgccggcca
     2161 cctataccta cgatgagtac aagaagggct acctggacca ggcatctggt ggggccgtgc
     2221 tccagctgcg gcccaacgac caggtctggg tgcagatgcc gtcggaccag gccaacggcc
     2281 tctactccac ggagtacatc cactcctcct tttcaggatt cttgctctgc cccacataac
     2341 ccgcgggggg ggtcctgctg ccctggcctc ctccccttta gtggtagagc gaccttttca
     2401 attacaaaga acctcctgga aaaaaaaaca aaagctgaac agaggcggcc gtggccttgg
     2461 cccgaggaga ctaacttgct ttctccctgc atgcaggctg agattgtttc tggaaggggc
     2521 tggcctgagt ttctttcccc caaatgtctg tgcagtgtca gggctgcacc ccataggccc
     2581 tgaggcacac agcccagccc cttgtgagtc ctggcctctg ctgggccctg aaggagctga
     2641 gagggagctc aactccccac cccgccacgt ggggagacag cccttcccac tggctccctg
     2701 atggcacctg ctggaggaaa ggggcacggc ctccctcaca gcccttggct ggggctcctc
     2761 cagctccccc tgggacctcc agcatatgac agtggactaa ggactgtggg gttttcctcc
     2821 aaggggaagg gagaagaggg gaccatcgag gtggcgagtg tggacaccct gccaggactg
     2881 cagcccccat ggtgatgctg tggcatcaga catgtccgtg gtgggcacag tgcctgttgc
     2941 cctgggaaag ggcaacctcc ctttcactgc tccagtggca gccatgggga aggcagtttg
     3001 tgagggcttg gggcacagac ctggggcagg aggcagctct tcacgttcat ccctgtctct
     3061 cccgggctgc ccccgccagc tctggctgtt tagcttgagg gcagcacaga ggcccctggg
     3121 acacctacag gccagaaaga tcaacctctg tgaagtgtct agaagtatct agtgcagatg
     3181 gtggcggagg cagaatcgac catcagcaaa catgagcact cttccctttc tccccttcca
     3241 cctgctgcgg gctgggctgg ttttctcaat acaaaattgt aagaggatcc ttgtcacccc
     3301 agccaggtat ccccaaggca gagcacctct cgtttggccc tctgaacaag gtgcacgcga
     3361 gctgggggat gaagacggct cccacttcct tttccttaat aagaaccata tggtgggtgt
     3421 atgtgtgtac aagaggggtt catctgtggg ggcttcctct ccttccaccc tctggttcca
     3481 atttcctgtt ctaagcagga ctagggccca ggaggctaag gctgggagag aaagggtgcc
     3541 aacaggtccc ttgggaatga gttggctctg gacgtttctg ccctgttccc cgatcagagc
     3601 tcctctgcag gaaacaggca ggatgcccct cccaacccct cagtccctac gtcaagcgga
     3661 gtggataagg ctgagatgag tgctgggagt ggtggacatt cctgctcgtg caaagatggc
     3721 cactttcccc gcagctgcag ggcctcgcgc tcggccctcg ccaggccagc cccactcctt
     3781 gtaccaagtg tgaactgggg tcattcggtc tgtgatctcg ttgcactgct ccaagtctgg
     3841 ctgtgtccag gcggtccatg ttgaaaatgg aggatggctg ctgacttctg actggctgag
     3901 cagtgggttc cttcaggttc cttgccaacc ctcctcccct gcccacaact tctccaaaca
     3961 aagcaggctg tttgctcact tcttcaaaag gaggaatgat aacccaaatc tgcccaagtg
     4021 acacttgaga aggttttggc tggggttcct ggtggatttc ttactaccta acgcccaaga
     4081 aaaccaacta aggactctca aaccatacct ggtgggggtt cttcgctcaa cctcttcttc
     4141 cctaggtcaa agccactatc atctgatgtg ttagggatgg gttctgattg gcagaaatta
     4201 atcagctccc aatgggagcc cacggaacta agtagggtcc caagaaaaaa aacgggagct
     4261 atttcacaga gctgagcttc tgccaaattt cattcctcaa acctttcagg aggggtggtt
     4321 ggcgtttcta aaatgtttat gggatttgag ttgcaggtgt ccacttaact gactagcttt
     4381 gataaacaat gtcagatttt aactatgaaa acgacattac cttgtgcatt tttatattga
     4441 ttcctatttt ttttttaaga ttaaagttta aatgttttcc actagtcatt tcacttctaa
     4501 cttggtatag gaagcttagc tctctacata cctatcatgt gccctgtatc acagaagatt
     4561 caggaaaaat gcacttggga atcaaagaaa atggaacttc tttttgaaaa gacaagcaac
     4621 catgttaact gtattgacac atcctcaata aaacctgttg tataaaaca
//
