AutismKB 2.0

Annotation Detail for EPB41L2


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Basic Information Top
Gene Symbol:EPB41L2 ( 4.1-G,DKFZp781D1972,DKFZp781H1755 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 2
Band: 6q23.1-q23.2
Quick LinksEntrez ID:2037; OMIM: 603237; Uniprot ID:E41L2_HUMAN; ENSEMBL ID: ENSG00000079819; HGNC ID: 3379
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylthreonine.
39Phosphoserine.
47Phosphoserine.
55Phosphoserine.
57Phosphoserine.
58Phosphoserine.
87Phosphoserine.
88Phosphotyrosine.
89Phosphothreonine.
386Phosphoserine.
499Phosphoserine.
550Phosphoserine.
598Phosphoserine (By similarity).
614Phosphoserine.
623Phosphotyrosine.
627Phosphoserine (By similarity).
647Phosphoserine (By similarity).
715Phosphoserine.
718Phosphoserine.
763Phosphothreonine (By similarity).
773Phosphotyrosine.
Location(AA) Modifications Resource
39Phosphoserine.Swiss-Prot 53.0
39PhosphoserinePhospho.ELM 6.0
89Phosphothreonine.Swiss-Prot 53.0
499Phosphoserine.Swiss-Prot 53.0
499PhosphoserinePhospho.ELM 6.0
550Phosphoserine.Swiss-Prot 53.0
550PhosphoserinePhospho.ELM 6.0
614PhosphoserinePhospho.ELM 6.0
763Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
16Phosphoserine(IKK)HMM predict
36N-linkedHMM predict
39Phosphoserine(CK2)HMM predict
39Phosphoserine(CK2)HMM predict
47O-linkedHMM predict
47Phosphoserine(IKK)HMM predict
47Phosphoserine(ATM)HMM predict
55Phosphoserine(IKK)HMM predict
58Phosphoserine(CK1)HMM predict
69Phosphoserine(CK1)HMM predict
348SulfotyrosineHMM predict
348Phosphotyrosine(INSR)HMM predict
544Phosphoserine(PKB)HMM predict
598Phosphoserine(CDK)HMM predict
598Phosphoserine(CDC2)HMM predict
623Phosphotyrosine(EGFR)HMM predict
647Phosphoserine(CAMK2)HMM predict
673Phosphothreonine(CDK)HMM predict
673Phosphothreonine(PKA)HMM predict
734Phosphoserine(IKK)HMM predict
736Phosphoserine(IKK)HMM predict
736Phosphoserine(CK1)HMM predict
738Phosphoserine(CK2)HMM predict
744Phosphoserine(CK1)HMM predict
746Phosphoserine(CK2)HMM predict
748Phosphoserine(CK2)HMM predict
748Phosphoserine(CK1)HMM predict
773Phosphotyrosine(Syk)HMM predict
773Phosphotyrosine(SRC)HMM predict
773Phosphotyrosine(INSR)HMM predict
773Phosphotyrosine(EGFR)HMM predict
773SulfotyrosineHMM predict
798O-linkedHMM predict
929O-linkedHMM predict
930O-linkedHMM predict
930O-linkedHMM predict
932O-linkedHMM predict
932Phosphoserine(IKK)HMM predict
934Phosphoserine(IKK)HMM predict
934O-linkedHMM predict
935O-linkedHMM predict
936O-linkedHMM predict
936O-linkedHMM predict
937O-linkedHMM predict
987Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001431
  • Location:chr6 131202182-131426014
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 131431051 131431413 362 5218
Myc K562GSE19551 131430993 131431302 309 5133
NFkBII GM10847GSE19485 131424924 131427141 2217 18
NFkBII GM15510GSE19485 131425540 131427184 1644 348
Oct1 H2O2-HelaGSE14283 131438619 131438660 41 12625
Oct1 HelaGSE14283 131426405 131426440 35 408
Oct1 HelaGSE14283 131438619 131438659 40 12625
Sox2 hESGSE18292 131444440 131444799 359 18605
TFAP2C MCF7GSE21234 131426060 131426683 623 357
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 131190604 131192158 1554 10802
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 131206474 131206703 229 0
CTCF CD4GSE12889 131235117 131235475 358 0
CTCF CD4GSE12889 131248290 131248629 339 0
CTCF CD4SISSRdata 131206474 131206703 229 0
CTCF CD4SISSRdata 131235117 131235475 358 0
CTCF CD4SISSRdata 131248290 131248629 339 0
CTCF HelaGSE12889 131235174 131235368 194 0
CTCF G2GSE9613 131206222 131206649 427 0
CTCF G2GSE9613 131235072 131235593 521 0
CTCF G2GSE9613 131248134 131248490 356 0
CTCF G2GSE9613 131256643 131256861 218 0
CTCF G2GSE9613 131425203 131426008 805 0
FOXA1 MCF7GSE15244 131296468 131297182 714 0
FOXA1 MCF7GSE15244 131332758 131333295 537 0
FOXA1 MCF7GSE15244 131358513 131359272 759 0
Fos K562GSE19551 131290167 131290448 281 0
FoxA1 MCF7MACSdata 131226531 131226661 130 0
FoxA1 MCF7MACSdata 131296586 131297025 439 0
FoxA1 MCF7MACSdata 131359025 131359255 230 0
H3ac HepG2E 131423301 131424862 1561 0
KLF4 hESGSE17917 131202383 131202546 163 0
Myc K562GSE19551 131248263 131248448 185 0
Oct1 H2O2-HelaGSE14283 131281743 131281773 30 0
Oct1 H2O2-HelaGSE14283 131343235 131343279 44 0
Oct1 HelaGSE14283 131281744 131281773 29 0
Oct1 HelaGSE14283 131308226 131308265 39 0
Oct1 HelaGSE14283 131334189 131334221 32 0
Oct1 HelaGSE14283 131337082 131337113 31 0
Oct1 HelaGSE14283 131343234 131343288 54 0
Oct1 HelaGSE14283 131370955 131370984 29 0
PHF8 HeLaGSE20725 131425163 131426496 1333 0
RARA MCF7GSE15244 131296468 131297182 714 0
RARA MCF7GSE15244 131358809 131359447 638 0
Rb SenescentGSE19898 131351366 131351504 138 0
TFAP2C MCF7GSE21234 131263824 131264094 270 0
TFAP2C MCF7GSE21234 131296526 131297056 530 0
hScc1 BcellGSE12603 131206431 131206756 325 0
hScc1 BcellGSE12603 131235247 131235593 346 0
hScc1 BcellGSE12603 131247866 131248903 1037 0
hScc1 BcellGSE12603 131425276 131426086 810 0
hScc1 CdLSGSE12603 131206258 131206831 573 0
hScc1 CdLSGSE12603 131235148 131235557 409 0
hScc1 CdLSGSE12603 131247902 131248903 1001 0
hScc1 CdLSGSE12603 131424980 131426086 1106 0
hScc1 G2GSE9613 131206190 131206756 566 0
hScc1 G2GSE9613 131248134 131249168 1034 0
p130 SenescentGSE19898 131235127 131235307 180 0
p63 keratinocytesGSE17611 131220109 131221140 1031 0
Validated miRNA targets Top
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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