AutismKB 2.0

Annotation Detail for PTH2R


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PTH2R ( PTHR2 )
Gene Full Name: parathyroid hormone 2 receptor
Band: 2q34
Quick LinksEntrez ID:5746; OMIM: 601469; Uniprot ID:PTH2R_HUMAN; ENSEMBL ID: ENSG00000144407; HGNC ID: 9609
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
51N-linked (GlcNAc...) (Potential).
106N-linked (GlcNAc...) (Potential).
116N-linked (GlcNAc...) (Potential).
121N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005048
  • Location:chr2 208979800-209067468
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 208968346 208968489 143 11383
CTCF CD4SISSRdata 208968346 208968489 143 11383
Fos K562GSE19551 208968264 208968506 242 11416
Myc K562GSE19551 208968232 208968601 369 11384
Sox2 hESGSE18292 208968271 208968668 397 11331
TFAP2C MCF7GSE21234 208972175 208972671 496 7378
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 208979567 208980210 643 0
CTCF G2GSE9613 209039349 209039589 240 0
CTCF G2GSE9613 209066140 209066463 323 0
FOXA1 MCF7GSE15244 209062427 209063052 625 0
Gata2 K562GSE18868 209061573 209062573 1000 0
H3K27me3 colorectalcancer 208980272 208980905 633 0
NRSF-mono JurkatQuESTdata 209063599 209063729 130 0
Nanog hESGSE18292 209040648 209041128 480 0
hScc1 BcellGSE12603 209039313 209039589 276 0
hScc1 G2GSE9613 208980645 208981111 466 0
hScc1 G2GSE9613 209039385 209039589 204 0
hScc1 G2GSE9613 209066140 209066392 252 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