AutismKB 2.0

Annotation Detail for NR5A2


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Basic Information Top
Gene Symbol:NR5A2 ( B1F,B1F2,CPF,FTF,FTZ-F1,FTZ-F1beta,LRH-1,LRH1,hB1F,hB1F-2 )
Gene Full Name: nuclear receptor subfamily 5, group A, member 2
Band: 1q32.1
Quick LinksEntrez ID:2494; OMIM: 604453; Uniprot ID:NR5A2_HUMAN; ENSEMBL ID: ENSG00000116833; HGNC ID: 7984
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
184FTZ-F1 box.
Location(AA) Modifications Resource
Location(AA) Modification Resource
75N-linkedHMM predict
120Phosphotyrosine(INSR)HMM predict
243Phosphoserine(CDC2)HMM predict
280Phosphoserine(CDC2)HMM predict
289SulfotyrosineHMM predict
297Phosphoserine(CDC2)HMM predict
297Phosphoserine(CDK)HMM predict
332N-linkedHMM predict
510Phosphoserine(PKB)HMM predict
510Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003822
  • Location:chr1 198263392-198413170
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 198252329 198253187 858 10635
USF1 HepG2E 198262699 198263975 1276 56
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 198419972 198420183 211 6907
STAT1 HeLaGSE12783 198416088 198417391 1303 3569
STAT1 IFNSISSRdata 198416280 198417101 821 3520
TFAP2C MCF7GSE21234 198419796 198420537 741 6996
p130 SenescentGSE19898 198416689 198416899 210 3624
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 198375516 198375736 220 0
CTCF CD4SISSRdata 198375516 198375736 220 0
CTCF HelaGSE12889 198326300 198326609 309 0
CTCF G2GSE9613 198269299 198269639 340 0
FOXA1 MCF7GSE15244 198342635 198343368 733 0
FOXA1 MCF7GSE15244 198367242 198367734 492 0
FOXA1 MCF7GSE15244 198386420 198387028 608 0
Fos K562GSE19551 198389814 198390509 695 0
FoxA1 MCF7MACSdata 198398626 198398802 176 0
Gata2 K562GSE18868 198389854 198390614 760 0
H3K4me3 colorectalcancer 198265260 198265962 702 0
H3ac HepG2E 198275757 198276202 445 0
Myc K562GSE19551 198375517 198375788 271 0
NFkBII GM10847GSE19485 198388675 198390536 1861 0
NFkBII GM12878GSE19485 198387967 198390779 2812 0
NFkBII GM12892GSE19485 198388487 198390735 2248 0
Nanog ESGSE20650 198317049 198317670 621 0
Oct4 ESGSE20650 198283982 198284427 445 0
Oct4 hESGSE17917 198283913 198284319 406 0
Oct4 hESGSE21916 198283647 198284542 895 0
P300 T0-glioblastomaGSE21026 198311891 198312470 579 0
P300 T30-glioblastomaGSE21026 198311695 198312538 843 0
PAX3-FKHR Rh4GSE19063 198287481 198288370 889 0
RARA MCF7GSE15244 198326290 198326963 673 0
RARA MCF7GSE15244 198342598 198343368 770 0
RARA MCF7GSE15244 198366385 198367734 1349 0
RARA MCF7GSE15244 198385845 198387067 1222 0
RARG MCF7GSE15244 198342635 198343368 733 0
RARG MCF7GSE15244 198366912 198367734 822 0
RARG MCF7GSE15244 198386330 198386957 627 0
Sox2 hESGSE18292 198317006 198317708 702 0
TFAP2C MCF7GSE21234 198342625 198343438 813 0
TFAP2C MCF7GSE21234 198386296 198387011 715 0
hScc1 BcellGSE12603 198274969 198275373 404 0
p63 keratinocytesGSE17611 198330631 198331412 781 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-134 hsa-mir-134 14 17916804
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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