AutismKB 2.0

Annotation Detail for CASR


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Basic Information Top
Gene Symbol:CASR ( CAR,EIG8,FHH,FIH,GPRC2A,HHC,HHC1,MGC138441,NSHPT,PCAR1 )
Gene Full Name: calcium-sensing receptor
Band: 3q13.33-q21.1
Quick LinksEntrez ID:846; OMIM: 601199; Uniprot ID:CASR_HUMAN; ENSEMBL ID: ENSG00000036828; HGNC ID: 1514
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90N-linked (GlcNAc...) (Potential).
130N-linked (GlcNAc...) (Potential).
261N-linked (GlcNAc...) (Potential).
287N-linked (GlcNAc...) (Potential).
386N-linked (GlcNAc...) (Potential).
400N-linked (GlcNAc...) (Potential).
446N-linked (GlcNAc...) (Potential).
468N-linked (GlcNAc...) (Potential).
488N-linked (GlcNAc...) (Potential).
541N-linked (GlcNAc...) (Potential).
594N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
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)Phospho.ELM 6.0
Location(AA) Modification Resource
57PhosphoserineHMM predict
82N-linkedHMM predict
83Phosphoserine(CK1)HMM predict
130N-linkedHMM predict
147Phosphoserine(IKK)HMM predict
147O-linkedHMM predict
151O-linkedHMM predict
175Phosphoserine(PKG)HMM predict
175Phosphoserine(PKC)HMM predict
218Phosphotyrosine(Syk)HMM predict
218Phosphotyrosine(INSR)HMM predict
244Phosphoserine(ATM)HMM predict
247Phosphoserine(CK2)HMM predict
261N-linkedHMM predict
287N-linkedHMM predict
386N-linkedHMM predict
400N-linkedHMM predict
402Phosphoserine(CK2)HMM predict
403Phosphoserine(CK1)HMM predict
421Phosphotyrosine(Syk)HMM predict
446N-linkedHMM predict
468N-linkedHMM predict
471N-linkedHMM predict
472N-linkedHMM predict
488N-linkedHMM predict
493N-linkedHMM predict
510Phosphotyrosine(Syk)HMM predict
573Phosphotyrosine(SRC)HMM predict
574Phosphoserine(CK2)HMM predict
594N-linkedHMM predict
660S-palmitoylHMM predict
661S-palmitoylHMM predict
691S-palmitoylHMM predict
713Phosphoserine(PKC)HMM predict
888Phosphothreonine(PKC)HMM predict
899Phosphoserine(PKG)HMM predict
901Phosphoserine(IKK)HMM predict
901Phosphoserine(CK1)HMM predict
901O-linkedHMM predict
908O-linkedHMM predict
908O-linkedHMM predict
908Phosphoserine(IKK)HMM predict
909Phosphothreonine(MAPK)HMM predict
909Phosphothreonine(CDK)HMM predict
909O-linkedHMM predict
911O-linkedHMM predict
913O-linkedHMM predict
915Phosphoserine(CK1)HMM predict
916Phosphoserine(CK1)HMM predict
918Phosphoserine(IKK)HMM predict
918Phosphoserine(CK2)HMM predict
956Phosphoserine(ATM)HMM predict
991N-linkedHMM predict
996N-linkedHMM predict
1057O-linkedHMM predict
1061Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000388
  • Location:chr3 123385219-123488031
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 123377696 123377733 37 7505
Oct1 H2O2-HelaGSE14283 123379188 123379216 28 6018
Oct1 HelaGSE14283 123377685 123377725 40 7515
Oct1 HelaGSE14283 123379190 123379218 28 6016
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 123501531 123501683 152 13576
CTCF CD4SISSRdata 123501531 123501683 152 13576
Oct1 HelaGSE14283 123503419 123503533 114 15445
RNAII Tamoxifen-MCF7GSE14664 123503500 123503535 35 15486
hScc1 CdLSGSE12603 123501303 123501584 281 13412
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 123460410 123460603 193 0
CTCF G2GSE9613 123385625 123385971 346 0
CTCF G2GSE9613 123431779 123432132 353 0
CTCF G2GSE9613 123447199 123447463 264 0
CTCF G2GSE9613 123463245 123463528 283 0
CTCF G2GSE9613 123486117 123486607 490 0
FoxA1 MCF7MACSdata 123388331 123388501 170 0
Myc K562GSE19551 123460378 123460716 338 0
NFkBII GM12878GSE19485 123466892 123468352 1460 0
Oct1 H2O2-HelaGSE14283 123421098 123421130 32 0
Oct1 H2O2-HelaGSE14283 123430010 123430040 30 0
Oct1 HelaGSE14283 123421093 123421128 35 0
Oct1 HelaGSE14283 123430004 123430041 37 0
RARG MCF7GSE15244 123462687 123463380 693 0
RNAII Tamoxifen-MCF7GSE14664 123430005 123430045 40 0
TAF HelaGSE8489 123467780 123468163 383 0
TAFII hESGSE17917 123460331 123460605 274 0
hScc1 BcellGSE12603 123460219 123460739 520 0
hScc1 CdLSGSE12603 123459915 123460776 861 0
hScc1 G2GSE9613 123460179 123460776 597 0
hScc1 G2GSE9613 123486153 123486475 322 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-31 hsa-mir-31 9 20145132
hsa-miR-31* hsa-mir-31 9 20145132
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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