AutismKB 2.0

Annotation Detail for GUCY2C


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Basic Information Top
Gene Symbol:GUCY2C ( GUC2C,STAR )
Gene Full Name: guanylate cyclase 2C (heat stable enterotoxin receptor)
Band: 12p12.3
Quick LinksEntrez ID:2984; OMIM: 601330; Uniprot ID:GUC2C_HUMAN; ENSEMBL ID: ENSG00000070019; HGNC ID: 4688
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
32N-linked (GlcNAc...) (Potential).
75N-linked (GlcNAc...) (Potential).
79N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
284N-linked (GlcNAc...) (Potential).
307N-linked (GlcNAc...) (Potential).
345N-linked (GlcNAc...) (Potential).
357N-linked (GlcNAc...) (Potential).
402N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
32N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
75N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
79N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
284N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
345N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
357N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
402N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32N-linkedHMM predict
75N-linkedHMM predict
79N-linkedHMM predict
110Phosphoserine(PKA)HMM predict
110Phosphoserine(PKG)HMM predict
132Phosphotyrosine(Jak)HMM predict
153Phosphotyrosine(Syk)HMM predict
183MethyllysineHMM predict
186Phosphoserine(IKK)HMM predict
195N-linkedHMM predict
284N-linkedHMM predict
290Phosphotyrosine(INSR)HMM predict
300Phosphoserine(CDC2)HMM predict
307N-linkedHMM predict
313N-linkedHMM predict
315Phosphoserine(CDK)HMM predict
315Phosphoserine(CDC2)HMM predict
345N-linkedHMM predict
357N-linkedHMM predict
363Phosphotyrosine(INSR)HMM predict
402N-linkedHMM predict
461Phosphotyrosine(Syk)HMM predict
482N-linkedHMM predict
485N-linkedHMM predict
499Phosphothreonine(PKA)HMM predict
524N-linkedHMM predict
543N-linkedHMM predict
574N-linkedHMM predict
658Phosphoserine(ATM)HMM predict
757N-linkedHMM predict
820Phosphotyrosine(EGFR)HMM predict
820Phosphotyrosine(Syk)HMM predict
820Phosphotyrosine(SRC)HMM predict
820Phosphotyrosine(Abl)HMM predict
853Phosphotyrosine(Syk)HMM predict
866Phosphotyrosine(Syk)HMM predict
866Phosphotyrosine(Jak)HMM predict
875Phosphotyrosine(INSR)HMM predict
955Phosphoserine(PKA)HMM predict
994N-linkedHMM predict
1033Phosphoserine(CDK)HMM predict
1052Phosphoserine(PKG)HMM predict
1064N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004963
  • Location:chr12 14656842-14740695
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 14754856 14755905 1049 14685
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 14663288 14663434 146 0
CTCF CD4GSE12889 14674277 14674710 433 0
CTCF CD4GSE12889 14708722 14708940 218 0
CTCF CD4SISSRdata 14663288 14663434 146 0
CTCF CD4SISSRdata 14674277 14674710 433 0
CTCF CD4SISSRdata 14708722 14708940 218 0
CTCF G2GSE9613 14663867 14664047 180 0
CTCF G2GSE9613 14674211 14674562 351 0
CTCF G2GSE9613 14709781 14709987 206 0
Fos K562GSE19551 14674252 14674753 501 0
Oct4 hESGSE17917 14674449 14674636 187 0
Oct4 hESGSE21916 14710188 14710683 495 0
USF1 HepG2E 14674211 14674357 146 0
hScc1 BcellGSE12603 14674211 14674562 351 0
hScc1 BcellGSE12603 14708310 14708849 539 0
hScc1 CdLSGSE12603 14674211 14674562 351 0
hScc1 CdLSGSE12603 14708243 14708849 606 0
hScc1 G2GSE9613 14674211 14674562 351 0
Validated miRNA targets Top
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
5729 EST chr12 14611950 14663499 136 mRNA GUCY2C chr12 14656842 14740696Sense/Antisense (SA) 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