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

Gene name
MEF2C, C5DELq14.3, DEL5q14.3
Definition
(RefSeq) myocyte enhancer factor 2C
  KO
K04454  MADS-box transcription enhancer factor 2C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04371  Apelin signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa05202  Transcriptional misregulation in cancer
hsa05418  Fluid shear stress and atherosclerosis
Network
N00119  MLL-AF4 fusion to transcriptional activation
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)
   04371 Apelin signaling pathway
    4208 (MEF2C)
   04022 cGMP - PKG signaling pathway
    4208 (MEF2C)
 Organismal Systems
  Endocrine system
   04921 Oxytocin signaling pathway
    4208 (MEF2C)
   04928 Parathyroid hormone synthesis, secretion and action
    4208 (MEF2C)
 Human Diseases
  Cancers
   05202 Transcriptional misregulation in cancers
    4208 (MEF2C)
  Cardiovascular diseases
   05418 Fluid shear stress and atherosclerosis
    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
Pfam: SRF-TF HJURP_C
Motif
Other DBs
NCBI-GeneID: 4208
NCBI-ProteinID: NP_001180279
OMIM: 600662
HGNC: 6996
Ensembl: ENSG00000081189
Vega: OTTHUMG00000162634
Pharos: Q06413(Tbio)
UniProt: Q06413 A0A024RAL7
Position
5q14.3
AA seq 473 aa AA seqDB search
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKI
NEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRN
SMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKS
PPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPP
SALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP
VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT
NT seq 1422 nt NT seq  +upstreamnt  +downstreamnt
atggggagaaaaaagattcagattacgaggattatggatgaacgtaacagacaggtgaca
tttacaaagaggaaatttgggttgatgaagaaggcttatgagctgagcgtgctgtgtgac
tgtgagattgcgctgatcatcttcaacagcaccaacaagctgttccagtatgccagcacc
gacatggacaaagtgcttctcaagtacacggagtacaacgagccgcatgagagccggaca
aactcagacatcgtggagacgttgagaaagaagggccttaatggctgtgacagcccagac
cccgatgcggacgattccgtaggtcacagccctgagtctgaggacaagtacaggaaaatt
aacgaagatattgatctaatgatcagcaggcaaagattgtgtgctgttccacctcccaac
ttcgagatgccagtctccatcccagtgtccagccacaacagtttggtgtacagcaaccct
gtcagctcactgggaaaccccaacctattgccactggctcacccttctctgcagaggaat
agtatgtctcctggtgtaacacatcgacctccaagtgcaggtaacacaggtggtctgatg
ggtggagacctcacgtctggtgcaggcaccagtgcagggaacgggtatggcaatccccga
aactcaccaggtctgctggtctcacctggtaacttgaacaagaatatgcaagcaaaatct
cctcccccaatgaatttaggaatgaataaccgtaaaccagatctccgagttcttattcca
ccaggcagcaagaatacgatgccatcagtgtctgaggatgtcgacctgcttttgaatcaa
aggataaataactcccagtcggctcagtcattggctaccccagtggtttccgtagcaact
cctactttaccaggacaaggaatgggaggatatccatcagccatttcaacaacatatggt
accgagtactctctgagtagtgcagacctgtcatctctgtctgggtttaacaccgccagc
gctcttcaccttggttcagtaactggctggcaacagcaacacctacataacatgccacca
tctgccctcagtcagttgggagcttgcactagcactcatttatctcagagttcaaatctc
tccctgccttctactcaaagcctcaacatcaagtcagaacctgtttctcctcctagagac
cgtaccaccaccccttcgagatacccacaacacacgcgccacgaggcggggagatctcct
gttgacagcttgagcagctgtagcagttcgtacgacgggagcgaccgagaggatcaccgg
aacgaattccactcccccattggactcaccagaccttcgccggacgaaagggaaagtccc
tcagtcaagcgcatgcgactttctgaaggatgggcaacatga

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