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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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

Entrez gene ID 6440 Official gene symbol SFTPC Full name surfactant protein C Aliases ,PSP-C,SFTP2,SMDP2,SP-C, Gene summary This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified. Location Chromosome: 8   Locus: 8p21 Gene position 22019184 - 22021992  Map Viewer Gene orientation plus Gene size 2809 bp Gene sequence >SFTPC:9877330..9880138:Length=2809 TTCTGGAGGGCCAGGAACAAACAGGCTTCAAAGCCAAGGGCTTGGCTGGCACACAGGGGG CTTGGTCCTTCACCTCTGTCCCCTCTCCCTACGGACACATATAAGACCCTGGTCACACCT GGGAGAGGAGGAGAGGAGAGCATAGCACCTGCAGCAAGATGGATGTGGGCAGCAAAGAGG TCCTGATGGAGAGCCCGCCGGTGAGTGTGGTTGCGTGTGTGTATGTATGTGTGCGCGCGC ACATGTGTGTGATGGGCCCTGCCTCCTCTATCCTCCCTGGCCTGTTTCCTTATCCAGATC CATTCACTCAACTAACCTAGGACTGTGATAAGTCAGGATGGGGACACCAAGACCACTAAG CCAGGGACCCTTGGGGAGCTGTTTGTGGGCCAAGAGCCACTATAGGGGTCCGTAGAAAGG GCTGTCCGTAGACAGCCCTGAGTCAGAAGCCATGAGAAACTTCAGAAGTCAGGGGACACT TCTCAGAGAAAAACCACATACGAGCTGGAGCCAGAATAAGGAGGAGCTCGCCCGGTGGAG AAGGAGGAAGGCATTCCAGGAAGGAGGGAGACTCTGTATCACCGCATGGAGGTGATCACT TGGGGAGAGAGAGGGGCTGACCATGGCTGGGGGAAGCAGCAGGGAGAGACAGGTGAAGCA GGCTCTCTTGGGTCCCTCAAAACTAGACCCTGCTTCTAAGCTTCTATGTGTCTATGGGTT TGTTAGAATCCAGGCCACCTCCTCCAAGAAGCCTTCTCTGATCTCCTCAGCCCTTCCCTG TCCATCCATCGCATCGGCTGTCCAGCCCTAGGCAGCCGTGGGAGGGTGTTCAGCTTGTAT AGGGAGAAGAGGGGACAGCCTCATGACCTCATGCCTGTCTCCTTGCCTGCCCCACCGTGT CAGGACTACTCCGCAGCTCCCCGGGGCCGATTTGGCATTCCCTGCTGCCCAGTGCACCTG AAACGCCTTCTTATCGTGGTGGTGGTGGTGGTCCTCATCGTCGTGGTGATTGTGGGAGCC CTGCTCATGGGTCTCCACATGAGCCAGAAACACACGGAGATGGTGAGAGGTGTGGGATGC ACAGCAGTGGGCACAGGACATGCCAGACAGCGGGGCTAGGTGGGATGGGCGATAGGAAAC TGTCCAAGGGGAGTGGAGGGGAGGAGGCAAGGGGCACAGCTAGAAGGAAAGAGGCACGAA CCAGGCAGCAACCCAGCTCAGGCTTTTCCACAAGGCCCCTGCCCCGCAGCAGGACAGCCA GCTCCCTCCAGCACCTGGTTCCACTCAGCCTCCCTGAACTCTTGGGAAAGAGGGAAGCGC ATTTGAGTACAGAGGCCTGAGTATGGGGATGGGTACCACTGGCTGAGTAGGAAAGGGGAA GACCAGGTGGCTCCATGCCCTTTCCCCAGGTTCTGGAGATGAGCATTGGGGCGCCGGAAG CCCAGCAACGCCTGGCCCTGAGTGAGCACCTGGTTACCACTGCCACCTTCTCCATCGGCT CCACTGGCCTCGTGGTGTATGACTACCAGCAGGTGGGTATGCCCAGACCTCCTGACCCTG GGACCAATGACAAGGCTCTGCTAGAGCCACCCAGCTGGGCCACTTCATCCACATCCATCT CTCCCTCTCCTCCAGACCTTTTTTGCCTGAGCCCCAGATTCTAGTATGACTCCCGTGCCC AACCTAGAGGGAGGTGGCTAAGGACCTGGGTCAGGGAGAGAGCAGGGCAGGGACCCCCGA ATGATCTCCAGCATTCTGTGCCTAGCTGCTGATCGCCTACAAGCCAGCCCCTGGCACCTG CTGCTACATCATGAAGATAGCTCCAGAGAGCATCCCCAGTCTTGAGGCTCTCACTAGAAA AGTCCACAACTTCCAGGTGTGTGTGTGTGGGTGAAAAGAGTGGGCTGTCTCCCTCCCAGG GCTGCTGGGAGGAGTGTCCGAATGGTGGCTATTTGTCACCTGTAAAGCACTGTTCCTCAT TGGCTGCCAGCTGACTGCCCCTCTCCTATTCCCCTGCACGACTCCTTTCCTTCCCACCCC ACTGCCAAGCTGCTGGGCTCAGCTGAGTCCACTCACTACCTGGTGGCTTCTGACTCTAGC ACAGCCCCTCTTTACTGATGAGAAAACTGAGGCTCAGAGAGATTGCCTGATATACCTGAA GTCCCACAATAAGGGCTGCACATGGGATAGAAACTCACTTCCTACATTCCAGATGGAATG CTCTCTGCAGGCCAAGCCCGCAGTGCCTACGTCTAAGCTGGGCCAGGCAGAGGGGCGAGA TGCAGGCTCAGCACCCTCCGGAGGGGACCCGGCCTTCCTGGGCATGGCCGTGAGCACCCT GTGTGGCGAGGTGCCGCTCTACTACATCTAGGACGCCTCCGGTGAGCAGGTGTGATCCCA GGGCCCCTGATCAGCAGCGGAGGAGCGCTCGGGCCACCTGCCCGGGCTGTGGAGGAGCGC TCGCGCTGACCAGGCGCTGGGGCGTCCACTGAAGCGGGGTCATCCAGGCAACTCGGGGGA GGGGAAGCTCACAGACCGGTACTTCCCACTCCCCTGATTCTCTCTGTCCATCCTCAACAT TCCTTTGCTTCACAGGGTCAGTGGAAGCCCCAACGGGAAAGGAAACGCCCCGGGCAAAGG GTCTTTTGCAGCTTTTGCAGACGGGCAAGAAGCTGCTTCTGCCCACACCGCAGGGACAAG CCCTGGAGAAATGGGAGCTTGGGGAGAGGATGGGAGTGGGCAGAGGTGGCGCCCAGGGGC CCGGGAACTCCTGCCACAACAGAATAAAGCAGCCTGATTGAAAAGCAAA OMIM ID 178620