AutismKB 2.0

Annotation Detail for GUCY2D


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Basic Information Top
Gene Symbol:GUCY2D ( CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC )
Gene Full Name: guanylate cyclase 2D, membrane (retina-specific)
Band: 17p13.1
Quick LinksEntrez ID:3000; OMIM: 600179; Uniprot ID:GUC2D_HUMAN; ENSEMBL ID: ENSG00000132518; HGNC ID: 4689
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
297N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
107Phosphothreonine(MAPK)HMM predict
110O-linkedHMM predict
122Phosphoserine(PKG)HMM predict
160O-linkedHMM predict
166Phosphothreonine(MAPK)HMM predict
166O-linkedHMM predict
166O-linkedHMM predict
216Phosphothreonine(PKC)HMM predict
217Phosphoserine(MAPK)HMM predict
286Phosphoserine(ATM)HMM predict
286Phosphoserine(MAPK)HMM predict
297N-linkedHMM predict
320Phosphoserine(IKK)HMM predict
320Phosphoserine(CK1)HMM predict
438MethylarginineHMM predict
441Phosphoserine(IKK)HMM predict
537Phosphoserine(CK1)HMM predict
541Phosphoserine(CK1)HMM predict
544Phosphoserine(ATM)HMM predict
724Phosphothreonine(PKA)HMM predict
762Phosphoserine(PKA)HMM predict
762Phosphoserine(CDC2)HMM predict
829Phosphoserine(CK2)HMM predict
922Phosphotyrosine(Syk)HMM predict
922Phosphotyrosine(Jak)HMM predict
931Phosphotyrosine(INSR)HMM predict
1011Phosphoserine(PKA)HMM predict
1021N-linkedHMM predict
1035Phosphotyrosine(Syk)HMM predict
1096LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000180
  • Location:chr17 7846716-7864381
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7834148 7834555 407 12365
CTCF CD4GSE12889 7841294 7841514 220 5313
CTCF CD4SISSRdata 7834148 7834555 407 12365
CTCF CD4SISSRdata 7841294 7841514 220 5313
CTCF G2GSE9613 7832839 7833169 330 13713
CTCF G2GSE9613 7834034 7834642 608 12379
CTCF G2GSE9613 7841343 7841582 239 5254
Rb SenescentGSE19898 7834136 7834560 424 12369
TAFII hESGSE17917 7834219 7834701 482 12257
USF1 HepG2E 7832839 7833398 559 13598
hScc1 BcellGSE12603 7832839 7833169 330 13713
hScc1 BcellGSE12603 7833923 7834642 719 12434
hScc1 CdLSGSE12603 7832839 7833398 559 13598
hScc1 CdLSGSE12603 7834243 7834642 399 12274
p130 SenescentGSE19898 7833813 7834181 368 12720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 7872969 7873799 830 9003
RARG MCF7GSE15244 7873128 7873376 248 8871
TFAP2C MCF7GSE21234 7873102 7873650 548 8995
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7847131 7847939 808 0
CTCF G2GSE9613 7860694 7861337 643 0
Fos K562GSE19551 7849891 7850490 599 0
H3K27me3 colorectalcancer 7848213 7848786 573 0
P300 T30-glioblastomaGSE21026 7863540 7864275 735 0
hScc1 BcellGSE12603 7847098 7848004 906 0
hScc1 BcellGSE12603 7860766 7861169 403 0
hScc1 CdLSGSE12603 7846830 7847539 709 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


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