KEGG   Homo sapiens (human): 4205
Entry
4205              CDS       T01001                                 

Gene name
MEF2A, ADCAD1, RSRFC4, RSRFC9, mef2
Definition
(RefSeq) myocyte enhancer factor 2A
  KO
K09260  MADS-box transcription enhancer factor 2A
Organism
hsa  Homo sapiens (human)
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04371  Apelin signaling pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa05418  Fluid shear stress and atherosclerosis
Disease
H01742  Coronary artery disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    4205 (MEF2A)
   04022 cGMP-PKG signaling pathway
    4205 (MEF2A)
 09150 Organismal Systems
  09152 Endocrine system
   04928 Parathyroid hormone synthesis, secretion and action
    4205 (MEF2A)
 09160 Human Diseases
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    4205 (MEF2A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4205 (MEF2A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   MADS-box regulators of differentiation, MEF-2
    4205 (MEF2A)
SSDB
Motif
Pfam: SRF-TF HJURP_C
Other DBs
NCBI-GeneID: 4205
NCBI-ProteinID: NP_001306135
OMIM: 600660
HGNC: 6993
Ensembl: ENSG00000068305
Vega: OTTHUMG00000171937
Pharos: Q02078(Tbio)
UniProt: Q02078 A0A0S2Z4N0
LinkDB
Structure
PDB: 

Position
15q26.3
AA seq 505 aa
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCESPDADDYFEHSPLSEDRFSKLNE
DSDFIFKRGPPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSP
PQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGAT
GANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQRIS
SSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLG
QVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQ
QQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIV
LGRPPNTEDRESPSVKRMRMDAWVT
NT seq 1518 nt   +upstreamnt  +downstreamnt
atggggcggaagaaaatacaaatcacacgcataatggatgaaaggaaccgacaggtcact
tttacaaagagaaagtttggattaatgaagaaagcctatgaacttagtgtgctctgtgac
tgtgaaatagcactcatcattttcaacagctctaacaaactgtttcaatatgctagcact
gatatggacaaagttcttctcaagtatacagaatataatgaacctcatgaaagcagaacc
aactcggatattgttgagactttaagaaagaaaggccttaatggttgtgagagccctgat
gctgacgattactttgagcacagtccactctcggaggacagattcagcaaactaaatgaa
gatagtgattttattttcaaacgaggccctcctggtctgccacctcagaacttttcaatg
tctgtcacagttccagtgaccagccccaatgctttgtcctacactaacccagggagttca
ctggtgtccccatctttggcagccagctcaacgttaacagattcaagcatgctctctcca
cctcaaaccacattacatagaaatgtgtctcctggagctcctcagagaccaccaagtact
ggcaatgcaggtgggatgttgagcactacagacctcacagtgccaaatggagctggaagc
agtccagtggggaatggatttgtaaactcaagagcttctccaaatttgattggagctact
ggtgcaaatagcttaggcaaagtcatgcctacaaagtctccccctccaccaggtggtggt
aatcttggaatgaacagtaggaaaccagatcttcgagttgtcatccccccttcaagcaag
ggcatgatgcctccactatcggaggaagaggaattggagttgaatacccagaggatcagt
agttctcaagccactcaacctcttgctaccccagtcgtgtctgtgacaaccccaagcttg
cctccgcaaggacttgtgtactcagcaatgccgactgcctacaacactgattattcactg
accagcgctgacctgtcagcccttcaaggcttcaactcgccaggaatgctgtcgctggga
caggtgtcggcctggcagcagcaccacctaggacaagcagccctcagctctcttgttgct
ggagggcagttatctcagggttccaatttatccattaataccaaccaaaacatcagcatc
aagtccgaaccgatttcacctcctcgggatcgtatgaccccatcgggcttccagcagcag
cagcagcagcagcagcagcagcagccgccgccaccaccgcagccccagccacaacccccg
cagccccagccccgacaggaaatggggcgctcccctgtggacagtctgagcagctctagt
agctcctatgatggcagtgatcgggaggatccacggggcgacttccattctccaattgtg
cttggccgacccccaaacactgaggacagagaaagcccttctgtaaagcgaatgaggatg
gacgcgtgggtgacctaa

KEGG   Homo sapiens (human): 4208
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
nt06240  Transcription
  Element
N00119  MLL-AF4 fusion to transcriptional activation
Disease
H00773  Autosomal dominant mental retardation
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)
SSDB
Motif
Pfam: SRF-TF HJURP_C
Other DBs
NCBI-GeneID: 4208
NCBI-ProteinID: NP_001180279
OMIM: 600662
HGNC: 6996
Ensembl: ENSG00000081189
Vega: OTTHUMG00000162634
Pharos: Q06413(Tbio)
UniProt: Q06413 A0A024RAL7
LinkDB
Position
5q14.3
AA seq 473 aa
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSTNKLFQYAST
DMDKVLLKYTEYNEPHESRTNSDIVETLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKI
NEDIDLMISRQRLCAVPPPNFEMPVSIPVSSHNSLVYSNPVSSLGNPNLLPLAHPSLQRN
SMSPGVTHRPPSAGNTGGLMGGDLTSGAGTSAGNGYGNPRNSPGLLVSPGNLNKNMQAKS
PPPMNLGMNNRKPDLRVLIPPGSKNTMPSVSEDVDLLLNQRINNSQSAQSLATPVVSVAT
PTLPGQGMGGYPSAISTTYGTEYSLSSADLSSLSGFNTASALHLGSVTGWQQQHLHNMPP
SALSQLGACTSTHLSQSSNLSLPSTQSLNIKSEPVSPPRDRTTTPSRYPQHTRHEAGRSP
VDSLSSCSSSYDGSDREDHRNEFHSPIGLTRPSPDERESPSVKRMRLSEGWAT
NT seq 1422 nt   +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

DBGET integrated database retrieval system