AutismKB 2.0

Annotation Detail for EPN2


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Basic Information Top
Gene Symbol:EPN2 ( EHB21,KIAA1065 )
Gene Full Name: epsin 2
Band: 17p11.2
Quick LinksEntrez ID:22905; OMIM: 607263; Uniprot ID:EPN2_HUMAN; ENSEMBL ID: ENSG00000072134; HGNC ID: 18639
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
173Phosphoserine (By similarity).
182Phosphoserine (By similarity).
192Phosphoserine.
195Phosphoserine.
485Phosphothreonine (By similarity).
486Phosphoserine (By similarity).
492Phosphoserine.
Location(AA) Modifications Resource
173Phosphoserine (By similarity).Swiss-Prot 53.0
182Phosphoserine (By similarity).Swiss-Prot 53.0
192Phosphoserine.Swiss-Prot 53.0
195Phosphoserine.Swiss-Prot 53.0
486Phosphothreonine (By similarity).Swiss-Prot 53.0
487Phosphoserine (By similarity).Swiss-Prot 53.0
493Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
16N-linkedHMM predict
173Phosphoserine(ATM)HMM predict
176N-linkedHMM predict
178Phosphoserine(CK1)HMM predict
178O-linkedHMM predict
182Phosphoserine(CK2)HMM predict
186Phosphotyrosine(SRC)HMM predict
199Phosphoserine(ATM)HMM predict
224Phosphoserine(ATM)HMM predict
258Phosphothreonine(PKC)HMM predict
259Phosphoserine(MAPK)HMM predict
259PhosphoserineHMM predict
259O-linkedHMM predict
259Phosphoserine(CDC2)HMM predict
264Phosphoserine(CK1)HMM predict
273Phosphothreonine(PKC)HMM predict
274Phosphoserine(CK2)HMM predict
317Phosphothreonine(PKC)HMM predict
317Phosphothreonine(PKA)HMM predict
344O-linkedHMM predict
345Phosphoserine(ATM)HMM predict
358O-linkedHMM predict
362N-linkedHMM predict
365N-linkedHMM predict
375Phosphoserine(IKK)HMM predict
376O-linkedHMM predict
376O-linkedHMM predict
420Phosphoserine(CDC2)HMM predict
435Phosphothreonine(PKC)HMM predict
435O-linkedHMM predict
440Phosphoserine(IKK)HMM predict
452N-linkedHMM predict
476O-linkedHMM predict
477Phosphoserine(MAPK)HMM predict
477Phosphoserine(CK1)HMM predict
477O-linkedHMM predict
483N-linkedHMM predict
485O-linkedHMM predict
485O-linkedHMM predict
487Phosphoserine(MAPK)HMM predict
500O-linkedHMM predict
504Phosphoserine(CDC2)HMM predict
509Phosphothreonine(MAPK)HMM predict
595Phosphothreonine(PKC)HMM predict
596O-linkedHMM predict
609O-linkedHMM predict
611Phosphothreonine(CDK)HMM predict
629O-linkedHMM predict
634O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014964
  • Location:chr17 19081302-19180619
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 19063237 19063686 449 17841
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19182071 19182261 190 1547
CTCF CD4SISSRdata 19182071 19182261 190 1547
CTCF G2GSE9613 19181111 19181466 355 669
CTCF G2GSE9613 19182031 19182382 351 1587
H3ac HepG2E 19181287 19181782 495 915
KLF4 hESGSE17917 19182088 19182487 399 1668
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 19149614 19151369 1755 0
CTCF G2GSE9613 19081156 19081668 512 0
CTCF G2GSE9613 19133304 19133500 196 0
FoxA1 MCF7MACSdata 19092084 19092380 296 0
Gata2 K562GSE18868 19114794 19115460 666 0
Myc hESGSE17917 19081722 19082074 352 0
NFkBII GM15510GSE19485 19149759 19151111 1352 0
Oct1 H2O2-HelaGSE14283 19175856 19175886 30 0
Oct1 H2O2-HelaGSE14283 19176098 19176124 26 0
P300 T30-glioblastomaGSE21026 19170552 19171527 975 0
PHF8 HeLaGSE20725 19081227 19082547 1320 0
RARG MCF7GSE15244 19086639 19086859 220 0
TFAP2C MCF7GSE21234 19082160 19082594 434 0
TFAP2C MCF7GSE21234 19088361 19089009 648 0
TFAP2C MCF7GSE21234 19092814 19093248 434 0
TFAP2C MCF7GSE21234 19153593 19154120 527 0
hScc1 BcellGSE12603 19081316 19081814 498 0
hScc1 BcellGSE12603 19129611 19130015 404 0
hScc1 BcellGSE12603 19161201 19161567 366 0
hScc1 CdLSGSE12603 19161201 19161602 401 0
Validated miRNA targets Top
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
10766 mRNA EPN2 chr17 19081302 19180620 965 mRNA chr17 19179056 19180033Sense/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


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