AutismKB 2.0

Annotation Detail for ESR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ESR2 ( ER-BETA,ESR-BETA,ESRB,ESTRB,Erb,NR3A2 )
Gene Full Name: estrogen receptor 2 (ER beta)
Band: 14q23.2-q23.3
Quick LinksEntrez ID:2100; OMIM: 601663; Uniprot ID:ESR2_HUMAN; ENSEMBL ID: ENSG00000140009; HGNC ID: 3468
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
87Phosphoserine (By similarity).
488Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
87Phosphoserine (By similarity).Swiss-Prot 53.0
87PhosphoserinePhospho.ELM 6.0
105PhosphoserinePhospho.ELM 6.0
165Phosphoserine (RSK-1)Phospho.ELM 6.0
488Phosphotyrosine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(CDC2)HMM predict
9O-linkedHMM predict
12Phosphoserine(MAPK)HMM predict
19Phosphoserine(ATM)HMM predict
31Phosphotyrosine(EGFR)HMM predict
43SulfotyrosineHMM predict
43Phosphotyrosine(Syk)HMM predict
55N-linkedHMM predict
61N-linkedHMM predict
64N-linkedHMM predict
75Phosphoserine(CDK)HMM predict
75Phosphoserine(CDC2)HMM predict
82Phosphothreonine(MAPK)HMM predict
99Phosphotyrosine(Abl)HMM predict
99Phosphotyrosine(INSR)HMM predict
99Phosphotyrosine(Syk)HMM predict
123Phosphothreonine(PKC)HMM predict
135Phosphoserine(CDC2)HMM predict
135O-linkedHMM predict
169S-palmitoylHMM predict
183Phosphotyrosine(INSR)HMM predict
200Phosphoserine(PKB)HMM predict
234Phosphoserine(PKB)HMM predict
234Phosphoserine(IKK)HMM predict
234Phosphoserine(CAMK2)HMM predict
234Phosphoserine(PKA)HMM predict
234Phosphoserine(PKG)HMM predict
397Phosphotyrosine(Jak)HMM predict
407N-linkedHMM predict
448Phosphoserine(ATM)HMM predict
510Phosphoserine(IKK)HMM predict
513Phosphoserine(ATM)HMM predict
520Phosphoserine(IKK)HMM predict
520Phosphoserine(CK1)HMM predict
524Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040275
  • Location:chr14 63763505-63830880
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 63768563 63769397 834 0
p130 SenescentGSE19898 63769085 63769565 480 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20600201
hsa-let-7a hsa-let-7a-2 11 20600201
hsa-let-7a hsa-let-7a-3 22 20600201
hsa-let-7a hsa-let-7a-1 9 19528081
hsa-let-7a hsa-let-7a-2 11 19528081
hsa-let-7a hsa-let-7a-3 22 19528081
hsa-let-7a* hsa-let-7a-1 9 19528081
hsa-let-7a* hsa-let-7a-3 22 19528081
hsa-let-7b hsa-let-7b 22 19528081
hsa-let-7b* hsa-let-7b 22 19528081
hsa-let-7c hsa-let-7c 21 19528081
hsa-let-7c* hsa-let-7c 21 19528081
hsa-let-7d hsa-let-7d 9 20600201
hsa-let-7d hsa-let-7d 9 19528081
hsa-let-7d* hsa-let-7d 9 20600201
hsa-let-7d* hsa-let-7d 9 19528081
hsa-let-7e hsa-let-7e 19 19528081
hsa-let-7e* hsa-let-7e 19 19528081
hsa-let-7f hsa-let-7f-1 9 19528081
hsa-let-7f hsa-let-7f-2 X 19528081
hsa-let-7f-1* hsa-let-7f-1 9 19528081
hsa-let-7f-2* hsa-let-7f-2 X 19528081
hsa-let-7g hsa-let-7g 3 19528081
hsa-let-7g* hsa-let-7g 3 19528081
hsa-let-7i hsa-let-7i 12 19528081
hsa-let-7i* hsa-let-7i 12 19528081
hsa-miR-122 hsa-mir-122 18 20600201
hsa-miR-122* hsa-mir-122 18 20600201
hsa-miR-206 hsa-mir-206 6 18593897
hsa-miR-206 hsa-mir-206 6 17312270
hsa-miR-21 hsa-mir-21 17 19528081
hsa-miR-21* hsa-mir-21 17 19528081
hsa-miR-22 hsa-mir-22 17 20600201
hsa-miR-22* hsa-mir-22 17 20600201
hsa-miR-30d hsa-mir-30d 8 20600201
hsa-miR-30d* hsa-mir-30d 8 20600201
hsa-miR-98 hsa-mir-98 X 19528081
No data
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
8018 mRNA SYNE2 chr14 63389453 63762903 142201 mRNA ESR2 chr14 63620702 63830881 Non-exonic Bidirectional (NOB) 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