AutismKB 2.0

Annotation Detail for NFATC2IP


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NFATC2IP ( ESC2,FLJ14639,MGC126790,MGC138387,NIP45,RAD60 )
Gene Full Name: nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein
Band: 16p11.2
Quick LinksEntrez ID:84901; OMIM: NA; Uniprot ID:NF2IP_HUMAN; ENSEMBL ID: ENSG00000176953; HGNC ID: 25906
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
88Phosphoserine.
90Phosphoserine.
92Phosphoserine.
127Phosphoserine.
198Phosphoserine.
201Phosphoserine.
204Phosphoserine.
316Phosphothreonine.
369Phosphoserine.
390Phosphoserine.
Location(AA) Modifications Resource
88Phosphoserine.Swiss-Prot 53.0
90Phosphoserine.Swiss-Prot 53.0
92Phosphoserine.Swiss-Prot 53.0
204Phosphoserine.Swiss-Prot 53.0
204PhosphoserinePhospho.ELM 6.0
316Phosphothreonine.Swiss-Prot 53.0
369PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
19MethylarginineHMM predict
54Phosphoserine(CK2)HMM predict
88Phosphoserine(PKB)HMM predict
88Phosphoserine(IKK)HMM predict
90Phosphoserine(CK1)HMM predict
92Phosphoserine(CK1)HMM predict
92Phosphoserine(CK2)HMM predict
164Phosphotyrosine(INSR)HMM predict
168O-linkedHMM predict
170Phosphoserine(ATM)HMM predict
170Phosphoserine(CDK)HMM predict
170Phosphoserine(IKK)HMM predict
170PhosphoserineHMM predict
170Phosphoserine(CDC2)HMM predict
173Phosphoserine(CDC2)HMM predict
173PhosphoserineHMM predict
181Phosphothreonine(PKC)HMM predict
198Phosphoserine(CDK)HMM predict
198Phosphoserine(CDC2)HMM predict
201Phosphoserine(IKK)HMM predict
201Phosphoserine(CDC2)HMM predict
201Phosphoserine(ATM)HMM predict
201Phosphoserine(CDK)HMM predict
201Phosphoserine(MAPK)HMM predict
204Phosphoserine(CDK)HMM predict
204Phosphoserine(CDC2)HMM predict
204Phosphoserine(MAPK)HMM predict
234Phosphoserine(CDC2)HMM predict
300Phosphoserine(CDC2)HMM predict
314O-linkedHMM predict
316O-linkedHMM predict
318Phosphothreonine(MAPK)HMM predict
338Phosphoserine(CDC2)HMM predict
369Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032815
  • Location:chr16 28869818-28885265
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28864305 28864820 515 5256
CTCF CD4SISSRdata 28864305 28864820 515 5256
CTCF JurkatGSE12889 28864436 28864865 429 5168
CTCF G2GSE9613 28864347 28864974 627 5158
E2F4 G0GSE7516 28869412 28870142 730 42
LIN9 SGSE7516 28869412 28870076 664 75
Oct4 hESGSE21916 28864249 28865009 760 5190
PHF8 Hs68minusFBSGSE20725 28864060 28865022 962 5278
Rb GrowingGSE19898 28864456 28864630 174 5276
Rb GrowingGSE19898 28869531 28869856 325 125
Rb QuiescentGSE19898 28864437 28864569 132 5316
Rb QuiescentGSE19898 28869481 28869873 392 142
Rb SenescentGSE19898 28864319 28864726 407 5296
Rb SenescentGSE19898 28869375 28869880 505 191
Rb shRbSenescenceGSE19898 28869482 28869865 383 145
TAFII hESGSE17917 28869254 28869983 729 200
hScc1 BcellGSE12603 28864347 28864974 627 5158
hScc1 CdLSGSE12603 28864347 28864974 627 5158
hScc1 G2GSE9613 28864347 28864974 627 5158
p130 QuiescentGSE19898 28864354 28864505 151 5389
p130 QuiescentGSE19898 28869354 28869847 493 218
p130 SenescentGSE19898 28869308 28870046 738 142
p130 shRbSenescentGSE19898 28869273 28869851 578 257
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28869741 28870373 632 0
ER Fulvestrant-MCF7GSE14664 28874383 28874416 33 0
ER Fulvestrant-MCF7GSE14664 28879045 28879077 32 0
ETS1 JurkatGSE17954 28869111 28870564 1453 0
Fos K562GSE19551 28869348 28870362 1014 0
GABP k562GSE8489 28870773 28871467 694 0
H3K4me3 colorectalcancer 28869991 28871467 1476 0
H3ac HepG2E 28869457 28871467 2010 0
LIN9 G0GSE7516 28869412 28870247 835 0
TAF HelaGSE8489 28870594 28871467 873 0
p130 shRbQuiescentGSE19898 28869130 28870668 1538 0
p130 G0GSE7516 28869412 28870247 835 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 19296470
hsa-miR-122* hsa-mir-122 18 19296470
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