AutismKB 2.0

Annotation Detail for MEF2C


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Basic Information Top
Gene Symbol:MEF2C ( C5DELq14.3; DEL5q14.3 )
Gene Full Name: myocyte enhancer factor 2C
Band: 5q14.3
Quick LinksEntrez ID:4208; OMIM: 600662; Uniprot ID:MEF2C_HUMAN; ENSEMBL ID: ENSG00000081189; HGNC ID: 6996
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4N6-acetyllysine.
59Phosphoserine; by CK2 (By similarity).
116N6-acetyllysine.
119N6-acetyllysine.
234N6-acetyllysine.
239N6-acetyllysine.
252N6-acetyllysine.
264N6-acetyllysine.
293Phosphothreonine; by MAPK14.
300Phosphothreonine; by MAPK14.
396Phosphoserine; by CDK5.
419Phosphoserine; by MAPK7.
Location(AA) Modifications Resource
59Phosphoserine (by CK2) (By similarity).Swiss-Prot 53.0
59Phosphoserine (CK2
293Phosphothreonine (MAPK14)Phospho.ELM 6.0
300Phosphothreonine (MAPK14)Phospho.ELM 6.0
387Phosphoserine (MAPK7;MAPK
391Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO).Swiss-Prot 53.0
396Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
49N-linkedHMM predict
52N-linkedHMM predict
87Phosphothreonine(PKC)HMM predict
110Phosphoserine(ATM)HMM predict
117Phosphotyrosine(EGFR)HMM predict
150O-linkedHMM predict
192O-linkedHMM predict
192O-linkedHMM predict
210O-linkedHMM predict
216Phosphotyrosine(INSR)HMM predict
216Phosphotyrosine(Jak)HMM predict
222Phosphoserine(MAPK)HMM predict
240Phosphoserine(IKK)HMM predict
240Phosphoserine(CDC2)HMM predict
283N-linkedHMM predict
284N-linkedHMM predict
313O-linkedHMM predict
317O-linkedHMM predict
324O-linkedHMM predict
375Phosphoserine(ATM)HMM predict
379N-linkedHMM predict
381Phosphoserine(CK1)HMM predict
381Phosphoserine(IKK)HMM predict
404Phosphothreonine(CDC2)HMM predict
404Phosphothreonine(CDK)HMM predict
404Phosphothreonine(MAPK)HMM predict
423O-linkedHMM predict
425Phosphoserine(CK2)HMM predict
429Phosphoserine(CK1)HMM predict
434Phosphoserine(ATM)HMM predict
434Phosphoserine(CK2)HMM predict
453Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002397
  • Location:chr5 88051921-88214779
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 88220852 88221284 432 6289
Nanog ESGSE20650 88229216 88229777 561 14717
Oct4 hESGSE17917 88220749 88221174 425 6182
hScc1 BcellGSE12603 88220742 88221626 884 6405
hScc1 CdLSGSE12603 88214423 88215395 972 130
hScc1 CdLSGSE12603 88221086 88221626 540 6577
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 88072060 88072128 68 0
FoxA1 MCF7MACSdata 88192100 88192264 164 0
Gata2 K562GSE18868 88168080 88168522 442 0
H3K4me3 colorectalcancer 88213309 88214979 1670 0
Myc K562GSE19551 88061285 88061456 171 0
Myc K562GSE19551 88145753 88146288 535 0
Myc K562GSE19551 88167980 88168533 553 0
Pol2 GM12878GSE19551 88195919 88196122 203 0
Pol2 GM12878GSE19551 88213742 88215107 1365 0
TAF k562GSE8489 88213309 88214943 1634 0
hScc1 BcellGSE12603 88061121 88061520 399 0
hScc1 BcellGSE12603 88063842 88064244 402 0
hScc1 BcellGSE12603 88214352 88214746 394 0
hScc1 CdLSGSE12603 88061155 88061554 399 0
hScc1 CdLSGSE12603 88063842 88064172 330 0
hScc1 CdLSGSE12603 88065830 88066586 756 0
hScc1 CdLSGSE12603 88154302 88154618 316 0
hScc1 CdLSGSE12603 88158489 88159192 703 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7c hsa-let-7c 21 19897480
hsa-let-7c* hsa-let-7c 21 19897480
hsa-miR-1 hsa-mir-1-2 18 20733065
hsa-miR-1 hsa-mir-1-1 20 20733065
hsa-miR-125b hsa-mir-125b-1 11 19897480
hsa-miR-125b hsa-mir-125b-2 21 19897480
hsa-miR-125b-2* hsa-mir-125b-2 21 19897480
hsa-miR-133a hsa-mir-133a-1 18 20013939
hsa-miR-133a hsa-mir-133a-2 20 20013939
hsa-miR-155 hsa-mir-155 21 19897480
hsa-miR-155* hsa-mir-155 21 19897480
hsa-miR-206 hsa-mir-206 6 19828686
hsa-miR-21 hsa-mir-21 17 21170291
hsa-miR-21* hsa-mir-21 17 21170291
hsa-miR-223 hsa-mir-223 X 18278031
hsa-miR-223* hsa-mir-223 X 18278031
hsa-miR-27a hsa-mir-27a 19 20736237
hsa-miR-27a* hsa-mir-27a 19 20736237
hsa-miR-27b hsa-mir-27b 9 20736237
hsa-miR-27b* hsa-mir-27b 9 20736237
hsa-miR-499-3p hsa-mir-499 20 20733065
hsa-miR-499-3p hsa-mir-499 20 19828686
hsa-miR-499-5p hsa-mir-499 20 20733065
hsa-miR-499-5p hsa-mir-499 20 19828686
hsa-miR-802 hsa-mir-802 21 19897480
hsa-miR-99a hsa-mir-99a 21 19897480
hsa-miR-99a* hsa-mir-99a 21 19897480
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21216 EST chr5 88080566 88080816 48 mRNA MEF2C chr5 88051921 88214780Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018