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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for EFEMP2 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 30008 Official gene symbol EFEMP2 Full name EGF-containing fibulin-like extracellular matrix protein 2 Aliases ,FBLN4,MBP1,UPH1, Gene summary A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. [provided by RefSeq] Location Chromosome: 11   Locus: 11q13.1 Gene position 65640340 - 65633912  Map Viewer Gene orientation minus Gene size 6429 bp Gene sequence >EFEMP2:complement(10939707..10946135):Length=6429 GGAATCCGCCGAAGGGCGGGCGGAGGCGCCGGGGTGGGCCGCGCCGCGGCAGGCGGGCGG GCGGGGGGCGCTTCCTGGGGCCGCGCGTCCAGGGAGCTGTGCCGTCCGCCCGTCCGTCTG CCCGCAGGCATTGCCCGAGCCAGCCGAGCCGCCAGAGCCGCGGGCCGCGGGGGTGTCGCG GGCCCAAGTGAGTGGCTGTGACCGTCCGTGGGGGAGGGCGTGGGCCGGAGTCTCGGCCGA GTCCGCGGCAGCGTAGCGCCCACAGAGGCCCGCGCTCCTCGGCCTTCGCCGCAGGGGCGC GGGGCGGGGGCGGGGTGGCCGGGGCGGGTGGGCCTGGGACCCGGGCCTGGGACCTGGGCC TGTGAGGAGTCGGCCCCCAGCCCTGGGAGGCCCCGAGGCCCAAGCACGGTCCTGAGCGGG CAGTGGCGGGGGCTGGGCTCGGGCTCCCGGTACAGGGAGTTGAGGTGCCGCGGGCAGAGG CCCCTGACCCGTGTCCACCATCTCGCAGCCCCAGGATGCTCCCCTGCGCCTCCTGCCTAC CCGGGTCTCTACTGCTCTGGGCGCTGCTACTGTTGCTCTTGGGATCAGCTTCTCCTCAGG ATTCTGAAGAGCCCGACAGCTACACGGTGGGGACAGTGAGGGCCGCTGGCCTGGGACAGG AAGGGTAGGGAGGAAGAGACCGGGACCCAGGGTGACTGCTGCCGGGGAAGTCTTCCTCCC CTGGCTGGTGGAGAGCTGGGGGCCATTGTTTGGAGCAGGCCGGAGGGTGGCCAGGCTCAG GCCCTAGTCTTGGCCTGGCCAGTTGGAGGAGATCTTAGGGTGACCACTGGCCACTTCTGG TTCCCTTCCAGGAATGCACAGATGGCTATGAGTGGGACCCAGACAGCCAGCACTGCCGGG GTGTGTGTGCCTGGGGGACCAAACACCCCCAGGAACCCGGAAAGGGATTGATAGCTGCTT TCCAAGGGACAGCCCCACCTCCAAGAACTGCCGTGGGAGCCCAGCAGCCCGTTCTATGCC CAGCTCTGCTACACAGAGGCCAGCTCTGGCTCTCTGGAGGCCAGTTGAGCTAGGGGTGGC CTCATCCTCTCCCAGAAACCCAGGAAACCTTGTCCCTACCCCTCAGAGGAGCTGGATCCT GTACGCCTTCTCTGAACCACTCTCCTGTCCCAGCTCTTTGTCTCATCACAACCTGGGAGG GTAGCGTCCCCAGGGGTGGGTAAGGAGGCCCCCCATCTTGGGCTGAGCTAGGGCTAGGGC CGTGGGGAGGGATAGAGACCCACTTGCAGGCCGAGAATGAGGGCAACAGTGGGAACAGCT GCCCCATCTCCAGCCTTGGCCAACCCTGGGGAGGGGTCCTGAGCAGGCAGACTTAGCTTG TTGAGCAGAGTGGGAAGGCTTTGCTGGGGCCACACATCTCAGAGAAGGCCGAGCTGGGTT CCTGCCTCCGCTCCCTCCAGGGCCAGCCCAGGAGACTGGCTGTGCCCAGCAGGCCCCTCT CTGCAGATGTCAACGAGTGTCTGACCATCCCTGAGGCCTGCAAGGGGGAAATGAAGTGCA TCAACCACTACGGGGGCTACTTGTGCCTGCCCCGCTCCGCTGCCGTCATCAACGACCTAC ACGGCGAGGGACCCCCGCCACCAGTGCCTCCCGCTCAACACCCCAACCCCTGCCCACCAG GCTATGAGCCCGACGATCAGGACAGCTGTGTGGGTGAGTGGGGACTGCTCTGGTGCCTGG CTTCCAGTCCTCTCACCAGGCGTCTTAAACTCAGACCTCATGTTCCTCCCCAGCTCAAAA GGGCCACTGGTGATGTCCACACCCTCATCCAGACACTCATGTTGTTTAGGACCTGCCGCA GGTGGCCCCAGCTTGTGTGCCACTGCTCCAGCCAGCTCCGGGCCCCTCCCCTCGGTTGCT GCAGAGACACTGCAGGAAGTCTGCCTTCCAGTGTCTGTCCCCTGGGAGCCACAGGCCTTG GAGGAAGGACAGTCCAGGAATCAGTGTTGCTGGGGATGTTTGGACAGGACCTTATTTCCT GTGCAACCCCCAACATGTGGTTTTAGAGGTTAGGGGTGCCTTTCCTGATGGCTCCAGGCT GGTGAACTCTTACGCGTGCTGTTGAGAGAACCGAATACAAGTGTTGGAACTATCTGTCAT GTTGGGTGGTGTGCGGGATCCCAGGCAGGGGCTGAGTGGTGTCTCTCGCAGATGTGGACG AGTGTGCCCAGGCCCTGCACGACTGTCGCCCCAGCCAGGACTGCCATAACTTGCCTGGCT CCTATCAGTGCACCTGCCCTGATGGTTACCGCAAGATCGGGCCCGAGTGTGTGGGTGAGT CCAGGAAGCAGCTTCTGTAGTCCCGGCTTTGTGTCCCTGGTCTGGCCCTTGCCCTAGCAC CTGACCCCCATTCAAGCCAGGCTTCACCCCCGGCCCCTGCCACCTCACCCTCCGTCATCA GACACAGAGGACTGTAGCGGGGAGTGTTTGGGAGGTGTCCTGGCTGACCCTGCCTAATTC AGCTCCTCGGACACAGGATTATGGGTGGTGAAGCCTTGAGTCCCAGCCGGCTCGAGCCCA CCTGCCCTCTGCCCTCTGCCCTCCGCCCTCCTTCTCCTGCCTCTATCCCTAGACATAGAC GAGTGCCGCTACCGCTACTGCCAGCACCGCTGCGTGAACCTGCCTGGCTCCTTCCGCTGC CAGTGCGAGCCGGGCTTCCAGCTGGGGCCTAACAACCGCTCCTGTGTTGGTGAGGCTGGG CTGGGCCAGGCTCCTGGGTCCTGGGCAGGGAGGTGTGAGGTGGGGGCGCTCCCTTCTTGA CCAGCCCAGGTAGAGTGGAGGCTCTGGGCTCCTCCTCCGCTTTCATCCCTCCTGTTTTTC CTGGCACCCCCAGATGTGAACGAGTGTGACATGGGGGCCCCATGCGAGCAGCGCTGCTTC AACTCCTATGGGACCTTCCTGTGTCGCTGCCACCAGGGCTATGAGCTGCATCGGGATGGC TTCTCCTGCAGTGGTGAGAGCTCCATCCCTGCTGTGTACTCCTCTGTGGACCCCCAGGCC CTAGCTATGCCGTGCCTCCTGCCACACAGTTCTCCATTTGAGGCCTCCGCCTCCTGTCAC TGTGCACCCAGCTGCCTCCTGGGTACTCGACCCCGGCTGGCTGTGGAGCACTCCCAGGCT AGTGGGGGAGGCACAAGGAGAGGCAGCTACGTCCTTACTGAAGCCTACTGGTGAGACTGA GGATGTGGGTGCCACCTGTCCCACATATCAGGCTCACCTGCATTTACCTGCATTTGAATT TTGCACTAGGACAAGTCACTCCTCTCTGAGCCTGTTTCTTCTTCTATAAAATGGGTTGTC TTGAGGATTAGGTGAGAGTGTGATAGATGGGCTCCAGCAAGTCTCAAGCTGCAGTGCTTT AAAGTGAATGAACTGCCACTTAATGAGAACCTGCCCTCGTAGTGTATTCCCTGACACACT TGGCCTCCTTCCTCTCAAGAATCCTAGGAGGTATGATTTTCTCCTTCCTCTACAAAATGA GGACATTCATATCTCCCTCCACGTTTGTTGGGAGGATTACATAAAAATAATCACAAAGTC CTGGGTAAATGGTGACTTTCATGATTCAGCTAAGAGAGGTTAAGTGACCCGCCCAAGCTC ATACAGCCAGGATGAGATGGGGCCAGGGCTGGATCCCAGACTTCTTACACCCTGTAAACT GGCATGTACCCCCTATGTTATGCTTTGCTGCGGGATGAGGCCTCACTGCTACCTGGCAGC ATGAGGGGAACAAGAGAAAGGAAATGTTCTGCCTGTGAAGCTCACAGTTAGTTGGAGGTG ACCACTGGGTGCTCAGGTTGACTGTGGGTTGCAGGAATTGGGCGTTACAGCACAAGCCAG ACCCATAAGACTCATCTAGTCTAACACACTCATTTTACTGATTGGGAAAATGAGATTCCC CTAGATCAGCTGGTGGGATTCACACCCAAGCCTCTAGATTCCCAGTAACTTATTTAGTGT TTCTTCCAGTTCTGGGCAGAGAGAAGTCTGTGAGCTGCGGCAGCCTGGGCAAACTTTCTT TGAACCCTCCATCTCCCGGCTGAACTTGTGGCTTGTCTCATCCCCCTCTGTCTTCCTACA TTCAGTCTAACATGGGGCTGGGCCTTCTTGGGAAATGTTTGTGGGACTGAATGGTGAGGA ATGCCCTTGACCCGGGGTCCCCATCCCCATGCTTCCTCAGATATTGATGAGTGTAGCTAC TCCAGCTACCTCTGTCAGTACCGCTGCATCAACGAGCCAGGCCGTTTCTCCTGCCACTGC CCACAGGGTTACCAGCTGCTGGCCACACGCCTCTGCCAAGGTACAGGTTGCCCGGGTGGG ATGGGCAGGACGGTGTCAGGAGCTGGCAGCCTGACGCCCCCGATTCCAGCCCCTCTCCCC TGGCACAGACATTGATGAGTGTGAGTCTGGTGCGCACCAGTGCTCCGAGGCCCAAACCTG TGTCAACTTCCATGGGGGCTACCGCTGCGTGGACACCAACCGCTGCGTGGAGCCCTACAT CCAGGTCTCTGAGAAGTGAGTCAATTCGATGCCAGGCCCCCACAGAAACTACGTCTCCCA GGGGGCTTTGGGGCTGACTGGCATCTATTCAGACCAGCGAGTGCCCCTGAGGGATGATGG GAATCATAGTCCTTCATGAAAACCAGTCACAGGGGTAGAAGGGTCCTTTTGGGATTCCCT CCCTTTGTAGGGTAGGAGAAATTGGGGGGACGGGCAAGGAGCTCATTTGTGTCCCCCACC TCGGGGTCTCTAGCCGCTGTCTCTGCCCGGCCTCCAACCCTCTATGTCGAGAGCAGCCTT CATCCATTGTGCACCGCTACATGACCATCACCTCGGAGCGGAGCGTGCCCGCTGACGTGT TCCAGATCCAGGCGACCTCCGTCTACCCCGGTGCCTACAATGCCTTTCAGATCCGTGCTG GAAACTCGCAGGGGGACTTTTACATTAGGGTAAGGTTTCTGCAACCCTCAACTGACATGC ACAATCTAAAACTGAACTCCAGGACGCCTTAAGGGGGAACTCGGCCAGGCTGCTATGCCC CACCCCTCCCCCAAAGCCCCGCCCCCGGAGGCGGGGTTTCTGCAGGAAGACGGGGGTACT CTAAATGCAATTCTAACGGTTAAATGCAATTCTAACGAAGCACTCGGACACGGGAGTTTG AGTCCTGGTACTGGTTTTCCATATTGATCTCAGTTTCTTCACCCACAAACCAAGGGAATG GCGTGTGCAGGGCCCTGGGGTCAGAAAGTCCACTCCTTGCTAGTGGATCTGTTAGGTGGG AGGGGGCCAGGGGCGGCTCACAGTGAGCTGCTCACAGTGACTGGCAGCCGCATGCATGGG TCTCAGCAGGAGAAGGGGTTTGTCTAGTACCAGCCCTTCTCTTTCTTTTTGAAATTGAAT GCTCTGAAGGGAGTCTGCTCACTTTGGGTCACCAAAGGTCCCACCAGTCCCAAGAGCCAC ATGTGGCCTTGAATCGTCAGTTAGCCTGGGTCAGACAGAGCAGGCTGGAGAGGGTGAGAA GAGCCCCAGCAGGAGATTTCTGAGGGCAGGAGCCTGGGTGGGGAGGAGAGACATCGAGGG TGTCAAAGAGCTGCATGAGAGGCTGGGGTGGCAGCCTGGCCAGGGCTGTTCCTCTGCCTC ACGGCCACGGGGCAGGGAGGTGACGCTGGGGCAGGGGCCTAGCACACAGGCTGACACAAT ATATATGTCCCCCCACCCACTGCCCTGCAGCAAATCAACAACGTCAGCGCCATGCTGGTC CTCGCCCGGCCGGTGACGGGCCCCCGGGAGTACGTGCTGGACCTGGAGATGGTCACCATG AATTCCCTCATGAGCTACCGGGCCAGCTCTGTACTGAGGCTCACCGTCTTTGTAGGGGCC TACACCTTCTGAGGAGCAGGAGGGAGCCACCCTCCCTGCAGCTACCCTAGCTGAGGAGCC TGTTGTGAGGGGCAGAATGAGAAAGGCAATAAAGGGAGAAAGAAAGTCCTGGTGGCTGAG GTGGGCGGGTCACACTGCAGGAAGCCTCAGGCTGGGGCAGGGTGGCACTTGGGGGGGCAG GCCAAGTTCACCTAAATGGGGGTCTCTATATGTTCAGGCCCAGGGGCCCCCATTGACAGG AGCTGGGAGCTCTGCACCACGAGCTTCAGTCACCCCGAGAGGAGAGGAGGTAACGAGGAG GGCGGACTCCAGGCCCCGGCCCAGAGATTTGGACTTGGCTGGCTTGCAGGGGTCCTAAGA AACTCCACTCTGGACAGCGCCAGGAGGCCCTGGGTTCCATTCCTAACTCTGCCTCAAACT GTACATTTGGATAAGCCCTAGTAGTTCCCTGGGCCTGTTTTTCTATAAAACGAGGCAACT GGACTGTTA OMIM ID 604633