KEGG   Homo sapiens (human): 4208Help
Entry
4208              CDS       T01001                                 

Gene name
MEF2C, C5DELq14.3, DEL5q14.3
Definition
myocyte enhancer factor 2C
Orthology
K04454  
MADS-box transcription enhancer factor 2C
Organism
hsa  Homo sapiens (human)
Pathway
MAPK signaling pathway
cGMP-PKG signaling pathway
Oxytocin signaling pathway
Transcriptional misregulation in cancer
Disease
H00773  
Autosomal dominant mental retardation
H01223  
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04010 MAPK signaling pathway
    4208 (MEF2C)
   04022 cGMP - PKG signaling pathway
    4208 (MEF2C)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    4208 (MEF2C)
 Human Diseases
  Cancers
   05202 Transcriptional misregulation in cancers
    4208 (MEF2C)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  beta-Scaffold factors with minor groove contacts
   MADS-box regulators of differentiation, MEF-2
    4208 (MEF2C)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
5q14.3
AA seq 463 aa AA seqDB search
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVEALNKKENKGCESPDPDSSYALTPRTEEKYKKINE
EFDNMIKSHKIPAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRNSM
SPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKSPP
PMNLGMNNRKPDLRVLIPPGSKNTMPSVNQRINNSQSAQSLATPVVSVATPTLPGQGMGG
YPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPPSALSQLGACT
STHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSPVDSLSSCSSS
YDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT
NT seq 1392 nt NT seq  +upstreamnt  +downstreamnt
atggggagaaaaaagattcagattacgaggattatggatgaacgtaacagacaggtgaca
tttacaaagaggaaatttgggttgatgaagaaggcttatgagctgagcgtgctgtgtgac
tgtgagattgcgctgatcatcttcaacagcaccaacaagctgttccagtatgccagcacc
gacatggacaaagtgcttctcaagtacacggagtacaacgagccgcatgagagccggaca
aactcagacatcgtggaggcattgaacaagaaagaaaacaaaggctgtgaaagccccgat
cccgactcctcttatgcactcaccccacgcactgaagaaaaatacaaaaaaattaatgaa
gaatttgataatatgatcaagagtcataaaattcctgctgttccacctcccaacttcgag
atgccagtctccatcccagtgtccagccacaacagtttggtgtacagcaaccctgtcagc
tcactgggaaaccccaacctattgccactggctcacccttctctgcagaggaatagtatg
tctcctggtgtaacacatcgacctccaagtgcaggtaacacaggtggtctgatgggtgga
gacctcacgtctggtgcaggcaccagtgcagggaacgggtatggcaatccccgaaactca
ccaggtctgctggtctcacctggtaacttgaacaagaatatgcaagcaaaatctcctccc
ccaatgaatttaggaatgaataaccgtaaaccagatctccgagttcttattccaccaggc
agcaagaatacgatgccatcagtgaatcaaaggataaataactcccagtcggctcagtca
ttggctaccccagtggtttccgtagcaactcctactttaccaggacaaggaatgggagga
tatccatcagccatttcaacaacatatggtaccgagtactctctgagtagtgcagacctg
tcatctctgtctgggtttaacaccgccagcgctcttcaccttggttcagtaactggctgg
caacagcaacacctacataacatgccaccatctgccctcagtcagttgggagcttgcact
agcactcatttatctcagagttcaaatctctccctgccttctactcaaagcctcaacatc
aagtcagaacctgtttctcctcctagagaccgtaccaccaccccttcgagatacccacaa
cacacgcgccacgaggcggggagatctcctgttgacagcttgagcagctgtagcagttcg
tacgacgggagcgaccgagaggatcaccggaacgaattccactcccccattggactcacc
agaccttcgccggacgaaagggaaagtccctcagtcaagcgcatgcgactttctgaagga
tgggcaacatga

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