Homo sapiens (human): 4208
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Entry
4208 CDS
T01001
Symbol
MEF2C, C5DELq14.3, DEL5q14.3, NEDHSIL
Name
(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
nt06240
Transcription (cancer)
Element
N00119
MLL-AF4 fusion to transcriptional activation
Disease
H00773
Autosomal dominant intellectual developmental disorder
H01223
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09130 Environmental Information Processing
09132 Signal transduction
04010 MAPK signaling pathway
4208 (MEF2C)
04371 Apelin signaling pathway
4208 (MEF2C)
04022 cGMP-PKG signaling pathway
4208 (MEF2C)
09150 Organismal Systems
09152 Endocrine system
04921 Oxytocin signaling pathway
4208 (MEF2C)
04928 Parathyroid hormone synthesis, secretion and action
4208 (MEF2C)
09160 Human Diseases
09161 Cancer: overview
05202 Transcriptional misregulation in cancer
4208 (MEF2C)
09166 Cardiovascular disease
05418 Fluid shear stress and atherosclerosis
4208 (MEF2C)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03000 Transcription factors [BR:
hsa03000
]
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SRF-TF
HJURP_C
Motif
Other DBs
NCBI-GeneID:
4208
NCBI-ProteinID:
NP_001180279
OMIM:
600662
HGNC:
6996
Ensembl:
ENSG00000081189
UniProt:
Q06413
LinkDB
All DBs
Position
5:complement(88717117..88904105)
Genome browser
AA seq
473 aa
AA seq
DB search
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKI
NEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRN
SMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKS
PPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPP
SALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP
VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT
NT seq
1422 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system