AutismKB 2.0

Annotation Detail for MEF2D


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Basic Information Top
Gene Symbol:MEF2D ( DKFZp686I1536 )
Gene Full Name: myocyte enhancer factor 2D
Band: 1q22
Quick LinksEntrez ID:4209; OMIM: 600663; Uniprot ID:MEF2D_HUMAN; ENSEMBL ID: ENSG00000116604; HGNC ID: 6997
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4N6-acetyllysine (By similarity).
98Phosphoserine.
106Phosphoserine.
110Phosphoserine.
116N6-acetyllysine (By similarity).
121Phosphoserine; by PKA.
180Phosphoserine; by MAPK7.
190Phosphoserine; by PKA (By similarity).
212Phosphoserine.
231Phosphoserine.
245N6-acetyllysine.
250N6-acetyllysine (By similarity).
251Phosphoserine.
267N6-acetyllysine (By similarity).
279N6-acetyllysine (By similarity).
439N6-acetyllysine; alternate.
444Phosphoserine.
Location(AA) Modifications Resource
98Phosphoserine.Swiss-Prot 53.0
106Phosphoserine.Swiss-Prot 53.0
110Phosphoserine.Swiss-Prot 53.0
180PhosphoserinePhospho.ELM 6.0
180Phosphoserine.Swiss-Prot 53.0
212Phosphoserine.Swiss-Prot 53.0
212PhosphoserinePhospho.ELM 6.0
439Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in SUMO);alternate.Swiss-Prot 53.0
439N6-acetyllysine; alternate.Swiss-Prot 53.0
444Phosphoserine (by CDK5).Swiss-Prot 53.0
Location(AA) Modification Resource
87Phosphothreonine(PKC)HMM predict
106Phosphoserine(CK1)HMM predict
121Phosphoserine(CK2)HMM predict
149Phosphoserine(IKK)HMM predict
150N-linkedHMM predict
158N-linkedHMM predict
162O-linkedHMM predict
170O-linkedHMM predict
180Phosphoserine(CDC2)HMM predict
190Phosphoserine(PKG)HMM predict
219Phosphoserine(CDC2)HMM predict
219Phosphoserine(IKK)HMM predict
231Phosphoserine(MAPK)HMM predict
251O-linkedHMM predict
258O-linkedHMM predict
301Phosphoserine(ATM)HMM predict
306Phosphoserine(IKK)HMM predict
306Phosphoserine(CK1)HMM predict
309O-linkedHMM predict
327O-linkedHMM predict
352Phosphoserine(CDC2)HMM predict
360N-linkedHMM predict
419Phosphoserine(CDC2)HMM predict
444Phosphoserine(CDK)HMM predict
444Phosphoserine(MAPK)HMM predict
444Phosphoserine(MAPK)HMM predict
444Phosphoserine(CDC2)HMM predict
450Phosphoserine(CDK)HMM predict
450Phosphoserine(CDC2)HMM predict
450Phosphoserine(IKK)HMM predict
450O-linkedHMM predict
472O-linkedHMM predict
472Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005920
  • Location:chr1 154700143-154737152
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 154739962 154742477 2515 4067
CTCF G2GSE9613 154737626 154738039 413 680
CTCF G2GSE9613 154745826 154746251 425 8886
Fos K562GSE19551 154737049 154738048 999 396
LIN9 G0GSE7516 154739308 154740192 884 2598
Myc K562GSE19551 154741276 154742114 838 4543
Oct1 HelaGSE14283 154743904 154743934 30 6767
USF1 HepG2E 154738930 154741999 3069 3312
USF1 HepG2E 154742340 154742553 213 5294
hScc1 BcellGSE12603 154741221 154741884 663 4400
hScc1 BcellGSE12603 154745826 154746181 355 8851
hScc1 CdLSGSE12603 154737590 154738105 515 695
hScc1 CdLSGSE12603 154741493 154741999 506 4594
p130 shRbQuiescentGSE19898 154739275 154739835 560 2403
p130 G0GSE7516 154739274 154740008 734 2489
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 154692771 154693473 702 7022
CTCF G2GSE9613 154694057 154694256 199 5987
FOXA1 MCF7GSE15244 154692735 154693813 1078 6870
Gata2 K562GSE18868 154696757 154697404 647 3063
H3ac HepG2E 154697330 154697995 665 2481
Myc K562GSE19551 154693682 154694337 655 6134
Oct1 H2O2-HelaGSE14283 154687768 154687816 48 12352
Oct1 HelaGSE14283 154687768 154687816 48 12352
Oct1 HelaGSE14283 154688324 154688379 55 11792
PHF8 HeLaGSE20725 154692736 154694073 1337 6739
RARA MCF7GSE15244 154692735 154693693 958 6930
RARG MCF7GSE15244 154692735 154693752 1017 6900
TFAP2C MCF7GSE21234 154692616 154694220 1604 6726
TFAP2C MCF7GSE21234 154698443 154699209 766 1318
USF1 HepG2E 154693090 154694256 1166 6471
USF1 HepG2E 154694585 154695020 435 5341
USF1 HepG2E 154697330 154698164 834 2397
USF2 HepG2E 154693159 154694256 1097 6436
USF2 HepG2E 154694585 154695020 435 5341
hScc1 BcellGSE12603 154692897 154693729 832 6831
hScc1 CdLSGSE12603 154692735 154694256 1521 6648
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 154717197 154717414 217 0
CTCF CD4SISSRdata 154717197 154717414 217 0
CTCF G2GSE9613 154704345 154704806 461 0
CTCF G2GSE9613 154708568 154708806 238 0
CTCF G2GSE9613 154711442 154712215 773 0
CTCF G2GSE9613 154717352 154717726 374 0
CTCF G2GSE9613 154736259 154736596 337 0
FOXA1 MCF7GSE15244 154708006 154708806 800 0
FoxA1 MCF7MACSdata 154707857 154708346 489 0
H3ac HepG2E 154733254 154733692 438 0
H3ac HepG2E 154734663 154735553 890 0
H3ac HepG2E 154735964 154736375 411 0
NFkBII GM15510GSE19485 154724205 154726331 2126 0
RARA MCF7GSE15244 154708006 154708911 905 0
RARA MCF7GSE15244 154724539 154725514 975 0
RARG MCF7GSE15244 154708006 154708932 926 0
TFAP2C MCF7GSE21234 154707760 154708971 1211 0
TFAP2C MCF7GSE21234 154719761 154720351 590 0
TFAP2C MCF7GSE21234 154724885 154725945 1060 0
hScc1 BcellGSE12603 154716870 154717633 763 0
hScc1 BcellGSE12603 154726386 154726604 218 0
hScc1 BcellGSE12603 154732323 154732951 628 0
hScc1 BcellGSE12603 154736027 154738105 2078 0
hScc1 CdLSGSE12603 154716870 154718109 1239 0
p130 SenescentGSE19898 154713186 154713618 432 0
p130 shRbSenescentGSE19898 154711883 154712294 411 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-134 hsa-mir-134 14 19197241
hsa-miR-17 hsa-mir-17 13 19666108
hsa-miR-17* hsa-mir-17 13 19666108
hsa-miR-20a hsa-mir-20a 13 19666108
hsa-miR-20a* hsa-mir-20a 13 19666108
No data
Cis-Nats regulation Top

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


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