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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COL8A2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 1296 Official gene symbol COL8A2 Full name collagen, type VIII, alpha 2 Aliases ,FECD,FECD1,FLJ00201,MGC116970,MGC116972,PPCD,PPCD2, Gene summary This gene encodes the alpha 2 chain of type VIII collagen. The 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. [provided by RefSeq] Location Chromosome: 1   Locus: 1p34.2 Gene position 36565850 - 36560842  Map Viewer Gene orientation minus Gene size 5009 bp Gene sequence >COL8A2:complement(6532760..6537768):Length=5009 GGACGCCATGCTGGGGACTCTGACACCCCTGTCTTCGCTGCTGCTGCTGCTACTGGTGCT GGTGCTGGGGTGTGGGCCGCGGGCGTCCTCTGGTGGCGGGGCCGGTGGGGCGGCGGGCTA TGCCCCAGTGAAGTACATCCAGCCCATGCAGAAAGGACCTGTGGGACCGCCCTTCCGTGA GGGCAAAGGCCAGTACCTGGGTGAGAGCCTCCTCACCCCACAGTGCCTCAAATCGCTCCC AGCCCCCAAATCCCCTGCCTCCCTGAGAGCCATCAGATCCTCAGGCGCCCTCCACAGCTC CTCATTCCCCACCAATTTTCCTACCTTCAGTGTTTTTCCTAATACCCCAGAGGGCCTGGA AACGGTGCAGTTAGCTGGCACAGGTGGTCTTCCAAGGGGGAGATGAACTGGGAAGTTGGG AGGTGGGGCTCTGCTCCCACGGGCTCTAAGGTGGGCTGCTGGTGCCACCTGGTGGCCACT CCACCTTCAGGTCATGCAGGGATGAGAGGTGAGAATCAGCCAGGCTCATGGAGGAGGCCC AGCCTAGGTAGGTTGGGTGTTAGGAGCCCTTAAGGAGGACACCCTGTTGCCCCCAAGATG TCCCCTGGGCCACCCCCAAACCCCATCTTCCATGAGAGCAGGAAGGGGCAGCCCCATTCT TCCTCTCCCGTGTACCTCATACTGGAATGGGGGAATGGGTAGATGGGGTCCCCTGTCCCC ACAGTTCAGGCCCCTGACTGCCCCTTTCTCTTTCTTTCTCAGAAATGCCTCTACCGCTGC TGCCGATGGACCTGAAGGGAGAGCCCGGCCCCCCTGGGAAGCCCGGGCCTCGGGGTCCCC CTGGCCCCCCTGGCTTCCCAGGAAAACCAGGCATGGGAAAGCCAGGACTCCATGGGCAGC CTGGCCCTGCTGGGCCCCCTGGCTTCTCCCGGATGGGCAAGGCTGGTCCCCCAGGGCTCC CTGGCAAGGTCGGGCCACCAGGGCAGCCGGGGCTTCGGGGGGAGCCAGGAATACGAGGGG ACCAGGGCCTCCGGGGACCCCCAGGACCCCCTGGCCTCCCGGGCCCCTCAGGCATTACTA TCCCTGGAAAACCAGGTGCCCAAGGGGTGCCAGGGCCCCCAGGATTCCAGGGGGAACCAG GGCCCCAGGGGGAGCCTGGGCCCCCAGGTGATCGAGGCCTCAAGGGGGATAATGGAGTGG GCCAGCCCGGGCTGCCTGGGGCCCCAGGGCAGGGGGGTGCCCCCGGCCCCCCCGGCCTCC CTGGTCCAGCTGGCTTAGGCAAACCTGGTTTGGATGGGCTTCCTGGGGCCCCAGGAGACA AGGGTGAGTCTGGGCCTCCTGGAGTTCCAGGCCCCAGGGGGGAGCCAGGAGCTGTGGGCC CAAAAGGACCTCCTGGAGTAGACGGTGTGGGAGTCCCAGGGGCAGCAGGGTTGCCAGGAC CACAGGGCCCATCAGGGGCCAAAGGGGAGCCAGGGACCCGGGGCCCCCCTGGGCTGATAG GCCCCACTGGCTATGGGATGCCAGGACTGCCAGGCCCCAAGGGGGACAGGGGCCCAGCTG GGGTCCCAGGACTCTTGGGGGACAGGGGTGAGCCAGGGGAGGATGGGGAGCCAGGGGAGC AGGGCCCACAGGGTCTTGGGGGTCCCCCTGGACTTCCTGGGTCTGCAGGGCTTCCTGGCA GACGTGGGCCCCCTGGGCCTAAGGGTGAGGCAGGGCCTGGAGGACCCCCAGGAGTGCCTG GCATTCGAGGTGACCAGGGGCCTAGTGGCCTGGCTGGGAAACCAGGGGTCCCAGGTGAGA GGGGACTTCCTGGGGCCCATGGACCCCCTGGACCAACTGGGCCCAAGGGTGAGCCGGGTT TCACGGGTCGCCCTGGAGGACCAGGGGTGGCAGGAGCCCTGGGGCAGAAAGGTGACTTGG GGCTCCCTGGGCAGCCTGGCCTGAGGGGTCCCTCAGGAATCCCAGGACTCCAGGGTCCAG CTGGCCCTATTGGGCCCCAAGGCCTGCCGGGCCTGAAGGGGGAACCAGGCCTGCCAGGGC CCCCTGGAGAGGGGAGAGCAGGGGAACCTGGCACGGCTGGGCCCACGGGGCCCCCAGGGG TCCCTGGCTCCCCTGGAATCACGGGCCCTCCGGGGCCTCCCGGGCCCCCGGGACCCCCTG GTGCCCCTGGGGCCTTCGATGAGACTGGCATCGCAGGCTTGCACCTGCCCAACGGCGGTG TGGAGGGTGCCGTGCTGGGCAAGGGGGGCAAGCCACAGTTTGGGCTGGGCGAGCTGTCTG CCCATGCCACACCGGCCTTCACTGCGGTGCTCACCTCGCCCTTCCCCGCCTCGGGCATGC CCGTGAAATTTGACCGGACTCTCTACAATGGCCACAGCGGCTACAACCCAGCCACTGGCA TCTTCACCTGCCCTGTGGGCGGCGTCTACTACTTTGCTTACCATGTGCACGTCAAGGGCA CCAACGTGTGGGTGGCCCTGTACAAGAACAACGTGCCGGCCACCTATACCTACGATGAGT ACAAGAAGGGCTACCTGGACCAGGCATCTGGTGGGGCCGTGCTCCAGCTGCGGCCCAACG ACCAGGTCTGGGTGCAGATGCCGTCGGACCAGGCCAACGGCCTCTACTCCACGGAGTACA TCCACTCCTCCTTTTCAGGATTCTTGCTCTGCCCCACATAACCCGCGGGGGGGGTCCTGC TGCCCTGGCCTCCTCCCCTTTAGTGGTAGAGCGACCTTTTCAATTACAAAGAACCTCCTG GAAAAAAAAACAAAAGCTGAACAGAGGCGGCCGTGGCCTTGGCCCGAGGAGACTAACTTG CTTTCTCCCTGCATGCAGGCTGAGATTGTTTCTGGAAGGGGCTGGCCTGAGTTTCTTTCC CCCAAATGTCTGTGCAGTGTCAGGGCTGCACCCCATAGGCCCTGAGGCACACAGCCCAGC CCCTTGTGAGTCCTGGCCTCTGCTGGGCCCTGAAGGAGCTGAGAGGGAGCTCAACTCCCC ACCCCGCCACGTGGGGAGACAGCCCTTCCCACTGGCTCCCTGATGGCACCTGCTGGAGGA AAGGGGCACGGCCTCCCTCACAGCCCTTGGCTGGGGCTCCTCCAGCTCCCCCTGGGACCT CCAGCATATGACAGTGGACTAAGGACTGTGGGGTTTTCCTCCAAGGGGAAGGGAGAAGAG GGGACCATCGAGGTGGCGAGTGTGGACACCCTGCCAGGACTGCAGCCCCCATGGTGATGC TGTGGCATCAGACATGTCCGTGGTGGGCACAGTGCCTGTTGCCCTGGGAAAGGGCAACCT CCCTTTCACTGCTCCAGTGGCAGCCATGGGGAAGGCAGTTTGTGAGGGCTTGGGGCACAG ACCTGGGGCAGGAGGCAGCTCTTCACGTTCATCCCTGTCTCTCCCGGGCTGCCCCCGCCA GCTCTGGCTGTTTAGCTTGAGGGCAGCACAGAGGCCCCTGGGACACCTACAGGCCAGAAA GATCAACCTCTGTGAAGTGTCTAGAAGTATCTAGTGCAGATGGTGGCGGAGGCAGAATCG ACCATCAGCAAACATGAGCACTCTTCCCTTTCTCCCCTTCCACCTGCTGCGGGCTGGGCT GGTTTTCTCAATACAAAATTGTAAGAGGATCCTTGTCACCCCAGCCAGGTATCCCCAAGG CAGAGCACCTCTCGTTTGGCCCTCTGAACAAGGTGCACGCGAGCTGGGGGATGAAGACGG CTCCCACTTCCTTTTCCTTAATAAGAACCATATGGTGGGTGTATGTGTGTACAAGAGGGG TTCATCTGTGGGGGCTTCCTCTCCTTCCACCCTCTGGTTCCAATTTCCTGTTCTAAGCAG GACTAGGGCCCAGGAGGCTAAGGCTGGGAGAGAAAGGGTGCCAACAGGTCCCTTGGGAAT GAGTTGGCTCTGGACGTTTCTGCCCTGTTCCCCGATCAGAGCTCCTCTGCAGGAAACAGG CAGGATGCCCCTCCCAACCCCTCAGTCCCTACGTCAAGCGGAGTGGATAAGGCTGAGATG AGTGCTGGGAGTGGTGGACATTCCTGCTCGTGCAAAGATGGCCACTTTCCCCGCAGCTGC AGGGCCTCGCGCTCGGCCCTCGCCAGGCCAGCCCCACTCCTTGTACCAAGTGTGAACTGG GGTCATTCGGTCTGTGATCTCGTTGCACTGCTCCAAGTCTGGCTGTGTCCAGGCGGTCCA TGTTGAAAATGGAGGATGGCTGCTGACTTCTGACTGGCTGAGCAGTGGGTTCCTTCAGGT TCCTTGCCAACCCTCCTCCCCTGCCCACAACTTCTCCAAACAAAGCAGGCTGTTTGCTCA CTTCTTCAAAAGGAGGAATGATAACCCAAATCTGCCCAAGTGACACTTGAGAAGGTTTTG GCTGGGGTTCCTGGTGGATTTCTTACTACCTAACGCCCAAGAAAACCAACTAAGGACTCT CAAACCATACCTGGTGGGGGTTCTTCGCTCAACCTCTTCTTCCCTAGGTCAAAGCCACTA TCATCTGATGTGTTAGGGATGGGTTCTGATTGGCAGAAATTAATCAGCTCCCAATGGGAG CCCACGGAACTAAGTAGGGTCCCAAGAAAAAAAACGGGAGCTATTTCACAGAGCTGAGCT TCTGCCAAATTTCATTCCTCAAACCTTTCAGGAGGGGTGGTTGGCGTTTCTAAAATGTTT ATGGGATTTGAGTTGCAGGTGTCCACTTAACTGACTAGCTTTGATAAACAATGTCAGATT TTAACTATGAAAACGACATTACCTTGTGCATTTTTATATTGATTCCTATTTTTTTTTTAA GATTAAAGTTTAAATGTTTTCCACTAGTCATTTCACTTCTAACTTGGTATAGGAAGCTTA GCTCTCTACATACCTATCATGTGCCCTGTATCACAGAAGATTCAGGAAAAATGCACTTGG GAATCAAAGAAAATGGAACTTCTTTTTGAAAAGACAAGCAACCATGTTAACTGTATTGAC ACATCCTCAATAAAACCTGTTGTATAAAA OMIM ID 120252