Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

846

Name

CASR

Synonymous

CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|NSHPT|PCAR1;calcium-sensing receptor;CASR;calcium-sensing receptor

Definition

extracellular calcium-sensing receptor|parathyroid Ca(2+)-sensing receptor 1|parathyroid cell calcium-sensing receptor

Position

3q13

Gene Type

protein-coding

Gene Regulation:

ENCODE RegulomeDB
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

ENCODE RegulomeDB   [Top]

Link to UCSC genome

Matched SNP location

dbSNP ID

Regulatory information

chr3:121902530-122005342chr3:121922253-121922253rs7652244Single_Nucleotides|eQTL|KPNA1, Chromatin_Structure|DNase-seq|Monocd14
chr3:121902530-122005342chr3:121977125-121977125rs10222469Single_Nucleotides|eQTL|WDR5B, Motifs|PWM|MEF-2, Motifs|PWM|Elf3, Motifs|PWM|RSRFC4, Protein_Binding|ChIP-seq|NFKB1
chr3:121902530-122005342chr3:121977282-121977282rs10934578Single_Nucleotides|eQTL|CSTA, Chromatin_Structure|FAIRE|Gm18507, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|NFKB1
chr3:121902530-122005342chr3:121987619-121987619rs11716910Single_Nucleotides|eQTL|LOC131076, Motifs|Footprinting|PR=GR, Motifs|PWM|PR=GR, Motifs|PWM|LXR=PXR=CAR=COUP=RAR, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|FAIRE|Gm18507, Protein_Binding|ChIP-seq|BCL11A, Protein_Binding|ChIP-seq|MEF2C, Protein_Binding|ChIP-seq|MEF2A
chr3:121902530-122005342chr3:121988355-121988355rs2202127Single_Nucleotides|eQTL|LOC131076, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|Gm12878

Transcription Factors   [Top]

Regulation From TransFac database

CASR(h) --> CaSR-isoform1(h) (expression).
mGluR1a(r) + CaSR(h) <==> mGluR1a(r):CaSR(h) (binding)
mGluR5(r) + CaSR(h) <==> mGluR5(r):CaSR(h) (binding)
CaSR(h) --> VDR(h) (increase of abundance)
CASR(h) --> CaSR(h) (expression).
CASR(h) --> CaSR-isoform2(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

90N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
130N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
261N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
287N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
386N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
446N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
468N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
488N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
541N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
594N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
888Phosphothreonine (PKC alpha;PK)9694886;12409307Phospho.ELM 6.0

Methylation Profile   [Top]

There is no record for CASR



')