Human cDNA
| Basic Informations | Advanced Informations |
| Clone information |
Clone ID | hMU002182 |
| Korean Unigene Clone | IRAT-23-F10 | |
| Original Clone | IRAK-32-M04 | |
| Vector | pBluescriptR | |
| Gene | MEF2C | |
| Gene Description | myocyte enhancer factor 2C | |
| Clone sequence size | 4118 (bp) | |
| Fullness | F | |
| Mutation | 874,1102,1726,2059 | |
| Amino acid - mutation | CCG(P)-> CAG(Q),AGC(S)-> AGT(S),CCA(P)-> CAA(Q),GGA(G)-> TGA(Stop) | |
| Price | \77,000 (부가세 포함가) |
| Clone information |
5' end sequenced Length | 4118 |
| Sequence | GCTCCCATCGCGCGCACACACGCACACATCGTCTCCAGCTCTCTG CTCGCTCTGCTCGCAGTCACAGACACTTGAGCACACGCGTACACC CAGACATCTTCGGGCTGCTATTGGATTGACTTTGAAGGTTCTGTG TGGGTCGCCGTGGCTGCATGTTTGAATCAGGTGGAGAAGCACTTC AACGCTGGACGAAGTAAAGATTATTGTTGTTATTTTTTTTTTCTC TCTCTCTCTCTCTTAAGAAAGGAAAATATCCCAAGGACTAATCTG ATCGGGTCTTCCTTCATGAACGAATGCAGGAATTTGGGAACTGAG CTGTGCAAGTGCTGAAGAAGGAGATTTGTTTGGAGGAAACAGGAA AGAGAAAGAAAAGGAAGGAAAAAATACATAATTTCAGGGACGAGA GAGAGAAGAAAAACGGGGACTATGGGGAGAAAAAAGATTCAGATT ACGAGGATTATGGATGAACGTAACAGACAGGTGACATTTACAAAG AGGAAATTTGGGTTGATGAAGAAGGCTTATGAGCTGAGCGTGCTG TGTGACTGTGAGATTGCGCTGATCATCTTCAACAGCACCAACAAG CTGTTCCAGTATGCCAGCACCGACATGGACAAAGTGCTTCTCAAG TACACGGAGTACAACGAGCAGCATGAGAGCCGGACAAACTCAGAC ATCGTGGAGACGTTGAGAAAGAAGGGCCTTAATGGCTGTGACAGC CCAGACCCCGATGCGGACGATTCCGTAGGTCACAGCCCTGAGTCT GAGGACAAGTACAGGAAAATTAACGAAGATATTGATCTAATGATC AGCAGGCAAAGATTGTGTGCTGTTCCACCTCCCAACTTCGAGATG CCAGTCTCCATCCCAGTGTCCAGTCACAACAGTTTGGTGTACAGC AACCCTGTCAGCTCACTGGGAAACCCCAACCTATTGCCACTGGCT CACCCTTCTCTGCAGAGGAATAGTATGTCTCCTGGTGTAACACAT CGACCTCCAAGTGCAGGTAACACAGGTGGTCTGATGGGTGGAGAC CTCACGTCTGGTGCAGGCACCAGTGCAGGGAACGGGTATGGCAAT CCCCGAAACTCACCAGGTCTGCTGGTCTCACCTGGTAACTTGAAC AAGAATATGCAAGCAAAATCTCCTCCCCCAATGAATTTAGGAATG AATAACCGTAAACCAGATCTCCGAGTTCTTATTCCACCAGGCAGC AAGAATACGATGCCATCAGTGTCTGAGGATGTCGACCTGCTTTTG AATCAAAGGATAAATAACTCCCAGTCGGCTCAGTCATTGGCTACC CCAGTGGTTTCCGTAGCAACTCCTACTTTACCAGGACAAGGAATG GGAGGATATCCATCAGCCATTTCAACAACATATGGTACCGAGTAC TCTCTGAGTAGTGCAGACCTGTCATCTCTGTCTGGGTTTAACACC GCCAGCGCTCTTCACCTTGGTTCAGTAACTGGCTGGCAACAGCAA CACCTACATAACATGCAACCATCTGCCCTCAGTCAGTTGGGAGCT TGCACTAGCACTCATTTATCTCAGAGTTCAAATCTCTCCCTGCCT TCTACTCAAAGCCTCAACATCAAGTCAGAACCTGTTTCTCCTCCT AGAGACCGTACCACCACCCCTTCGAGATACCCACAACACACGCGC CACGAGGCGGGGAGATCTCCTGTTGACAGCTTGAGCAGCTGTAGC AGTTCGTACGACGGGAGCGACCGAGAGGATCACCGGAACGAATTC CACTCCCCCATTGGACTCACCAGACCTTCGCCGGACGAAAGGGAA AGTCCCTCAGTCAAGCGCATGCGACTTTCTGAATGATGGGCAACA TGATCAGATTATTACTTACTAGTTTTTTTTTTTTTCTTGCAGTGT GTGTGTGTGCTATACCTTAATGGGGAAGGGGGGTCGATATGCATT ATATGTGCCGTGTGTGGAAAAAAAAAAAGTCAGGTACTCTGTTTT GTAAAAGTACTTTTAAATTGCCTCAGTGATACAGTATAAAGATAA ACAGAAATGCTGAGATAAGCTTAGCACTTGAGTTGTACAACAGAA CACTTGTACAAAATAGATTTTAAGGCTAACTTCTTTTCACTGTTG TGCTCCTTTGCAAAATGTATGTTACAATAGATAGTGTCATGTTGC AGGTTCAACGTTATTTACATGTAAATAGACAAAAGGAAACATTTG CCAAAAGCGGCAGATCTTTACTGAAAGAGAGAGCAGCTGTTATGC AACATATAGAAAAATGTATAGATGCTTGGACAGACCCGGTAATGG GTGGCCATTGGTAAATGTTAGGAACACACCAGGTCACCTGACATC CCAAGAATGCTCACAAACCTGCAGGCATATCATTGGCGTATGGCA CTCATTAAAAAGGATCAGAGACCATTAAAAGAGGACCATACCTAT TAAAAAAAAATGTGGAGTTGGAGGGCTAACATATTTAATTAAATA AATAAATAAATCTGGGTCTGCATCTCTTATTAAATAAAAATATAA AAATATGTACATTACATTTTGCTTATTTTCATATAAAAGGTAAGA CAGAGTTTGCAAAGCATTTGTGGCTTTTTGTAGTTTACTTAAGCC AAAATGTGTTTTTTTCCCCTTGATAGCTTCGCTAATATTTTAAAC AGTCCTGTAAAAAACCAAAAAGGACTTTTTGTATAGAAAGCACTA CCCTAAGCCATGAAGAACTCCATGCTTTGCTAACCAAGATAACTG TTTTCTCTTTGTAGAAGTTTTGTTTTTGAAATGTGTATTTCTAAT TATATAAAATATTAAGAATCTTTTAAAAAAATCTGTGAAATTAAC ATGCTTGTGTATAGCTTTCTAATATATATAATATTATGGTAATAG CAGAAGTTTTGTTATCTTAATAGCGGGAGGGGGGTATATTTGTGC AGTTGCACATTTGAGTAACTATTTTCTTTCTGTTTTCTTTTACTC TGCTTACATTTTATAAGTTTAAGGTCAGCTGTCAAAAGGATAACC TGTGGGGTTAGAACATATCACATTGCAACACCCTAAATTGTTTTT AATACATTAGCAATCTATTGGGTCAACTGACATCCATTGTATATA CTAGTTTCTTTCATGCTATTTTTATTTTGTTTTTTGCATTTTTAT CAAATGCAGGGCCCCTTTCTGATCTCACCATTTCACCATGCATCT TGGAATTCAGTAAGTGCATATCCTAACTTGCCCATATTCTAAATC ATCTGGTTGGTTTTCAGCCTAGAATTTGATACGCTTTTTAGAAAT ATGCCCAGAATAGAAAAGCTATGTTGGGGCACATGTCCTGCAAAT ATGGCCCTAGAAACAAGTGATATGGAATTTACTTGGTGAATAAGT TATAAATTCCCACAGAAGAAAAATGTGAAAGACTGGGTGCTAGAC AAGAAGGAAGCAGGTAAAGGGATAGTTGCTTTGTCATCCGTTTTT AATTATTTTAACTGACCCTTGACAATCTTGTCAGCAATATAGGAC TGTTGAACAATCCCGGTGTGTCAGGACACCCAAATGTCACTTCTG CATAAAGCATGTATGTCATCTATTTTTTCTTCAATAAAGAGATTT AATAGCCATTTCAAGAAATCCCATAAAGAACCTCTCTATGTCCCT TTTTTTAATTTAAAAAAATGACTCTTGTCTAATATTCGTCTATAA GGGATTAATTTTCAGACCCTTTAATAAGTGAGTGCCATAAGAAAG TCAATATATATTGTTTAAAAGATATTTCAGTCTAGGAAAGATTTT CCTTCTCTTGGAATGTGAAGATCTGTCGATTCATCTCCAATCATA TGCATTGACATACACAGCAAAGAAGATATAGGCAGTAATATCAAC ACTGCTATATCATGTGTAGGACATTTCTTATCCATTTTTTCTCTT TTACTTGCATAGTTGCTATGTGTTTCTCATTGTAAAAGGCTGCCA CTGGGTGGCAGAAGCCAAGAGACCTTATTAACTAGGCTATATTTT TCTTAACTTGATCTGAAATCCACAATTAGACCACAATGCACCTTT GGTTGTATCCATAAAGGATGCTAGCCTGCCTTGTACTAATGTTTT ATATATTAAAAAAAAAAAAAAAA |
| vector name | |
| vector source | |
| enzyme site(DNA insert) | |
| sequencing primer | |
| vector sequence | |
| Gene Location | Chromosome | 5 | |||||||||||
| Location | 5q14.3 | ||||||||||||
| Strand |
|
||||||||||||
| Database links | RefSeq | NM_001193350 | |||||||||||
| KEGG Genes | 4208 | ||||||||||||
| GeneCard | MEF2C |
| sequence | sequence of CDS | ATGGGGAGAAAAAAGATTCAGATTACGAGGATTATGGATGAACGTAACAGACAGGTGACATTTACAAAGAGGAAATTTGGGTTGATGAAGAAGGCTTATGAGCTGAGCGTGCTGTGTGACTGTGAGATTGCGCTGATCATCTTCAACAGCACCAACAAGCTGTTCCAGTATGCCAGCACCGACATGGACAAAGTGCTTCTCAAGTACACGGAGTACAACGAGCCGCATGAGAGCCGGACAAACTCAGACATCGTGGAGACGTTGAGAAAGAAGGGCCTTAATGGCTGTGACAGCCCAGACCCCGATGCGGACGATTCCGTAGGTCACAGCCCTGAGTCTGAGGACAAGTACAGGAAAATTAACGAAGATATTGATCTAATGATCAGCAGGCAAAGATTGTGTGCTGTTCCACCTCCCAACTTCGAGATGCCAGTCTCCATCCCAGTGTCCAGCCACAACAGTTTGGTGTACAGCAACCCTGTCAGCTCACTGGGAAACCCCAACCTATTGCCACTGGCTCACCCTTCTCTGCAGAGGAATAGTATGTCTCCTGGTGTAACACATCGACCTCCAAGTGCAGGTAACACAGGTGGTCTGATGGGTGGAGACCTCACGTCTGGTGCAGGCACCAGTGCAGGGAACGGGTATGGCAATCCCCGAAACTCACCAGGTCTGCTGGTCTCACCTGGTAACTTGAACAAGAATATGCAAGCAAAATCTCCTCCCCCAATGAATTTAGGAATGAATAACCGTAAACCAGATCTCCGAGTTCTTATTCCACCAGGCAGCAAGAATACGATGCCATCAGTGTCTGAGGATGTCGACCTGCTTTTGAATCAAAGGATAAATAACTCCCAGTCGGCTCAGTCATTGGCTACCCCAGTGGTTTCCGTAGCAACTCCTACTTTACCAGGACAAGGAATGGGAGGATATCCATCAGCCATTTCAACAACATATGGTACCGAGTACTCTCTGAGTAGTGCAGACCTGTCATCTCTGTCTGGGTTTAACACCGCCAGCGCTCTTCACCTTGGTTCAGTAACTGGCTGGCAACAGCAACACCTACATAACATGCCACCATCTGCCCTCAGTCAGTTGGGAGCTTGCACTAGCACTCATTTATCTCAGAGTTCAAATCTCTCCCTGCCTTCTACTCAAAGCCTCAACATCAAGTCAGAACCTGTTTCTCCTCCTAGAGACCGTACCACCACCCCTTCGAGATACCCACAACACACGCGCCACGAGGCGGGGAGATCTCCTGTTGACAGCTTGAGCAGCTGTAGCAGTTCGTACGACGGGAGCGACCGAGAGGATCACCGGAACGAATTCCACTCCCCCATTGGACTCACCAGACCTTCGCCGGACGAAAGGGAAAGTCCCTCAGTCAAGCGCATGCGACTTTCTGAAGGATGGGCAACATGA |
| sequence of protein | MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKSPPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVATPTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPPSALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSPVDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT | |
| Database link | RefSeq | NM_001193350 |
| UniProt | ||
| CCDS |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)
|
| Disease | Summary |
| This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] |
|
|||||||||||
