AutismKB 2.0

Annotation Detail for DCBLD2


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Basic Information Top
Gene Symbol:DCBLD2 ( CLCP1,ESDN )
Gene Full Name: discoidin, CUB and LCCL domain containing 2
Band: 3q12.1
Quick LinksEntrez ID:131566; OMIM: 608698; Uniprot ID:DCBD2_HUMAN; ENSEMBL ID: ENSG00000057019; HGNC ID: 24627
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
95N-linked (GlcNAc...) (Potential).
155N-linked (GlcNAc...) (Potential).
272N-linked (GlcNAc...) (Potential).
474N-linked (GlcNAc...) (Potential).
516N-linked (GlcNAc...) (Potential).
522N-linked (GlcNAc...) (Potential).
606Phosphoserine.
715Phosphotyrosine.
732Phosphotyrosine.
750Phosphotyrosine.
Location(AA) Modifications Resource
95N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
272N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
474N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
516N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
522N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
750Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
41N-linkedHMM predict
81O-linkedHMM predict
95N-linkedHMM predict
272N-linkedHMM predict
348SulfotyrosineHMM predict
377Phosphotyrosine(EGFR)HMM predict
377Phosphotyrosine(Syk)HMM predict
432N-linkedHMM predict
474N-linkedHMM predict
509O-linkedHMM predict
509O-linkedHMM predict
511Phosphoserine(CDC2)HMM predict
516N-linkedHMM predict
520Phosphothreonine(MAPK)HMM predict
520PhosphothreonineHMM predict
522N-linkedHMM predict
565Phosphotyrosine(INSR)HMM predict
565PhosphotyrosineHMM predict
565Phosphotyrosine(SRC)HMM predict
598Phosphoserine(PKG)HMM predict
611Phosphothreonine(PKA)HMM predict
621Phosphotyrosine(Syk)HMM predict
649Phosphotyrosine(Syk)HMM predict
649Phosphotyrosine(Jak)HMM predict
649Phosphotyrosine(INSR)HMM predict
655Phosphotyrosine(Syk)HMM predict
657Phosphoserine(CDC2)HMM predict
663Phosphotyrosine(Syk)HMM predict
677Phosphotyrosine(Abl)HMM predict
677Phosphotyrosine(INSR)HMM predict
692O-linkedHMM predict
697O-linkedHMM predict
724Phosphoserine(PKA)HMM predict
724Phosphoserine(IKK)HMM predict
732Phosphotyrosine(Syk)HMM predict
750Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080927
  • Location:chr3 99997504-100103222
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 100120832 100121419 587 17903
Fos K562GSE19551 100103112 100103733 621 200
TAF k562GSE8489 100103816 100104374 558 873
p130 QuiescentGSE19898 100103385 100103707 322 324
p130 shRbSenescentGSE19898 100103481 100103720 239 378
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100019069 100019261 192 0
CTCF CD4SISSRdata 100019069 100019261 192 0
CTCF G2GSE9613 100096762 100096906 144 0
CTCF G2GSE9613 100102399 100103459 1060 0
ER E2-MCF7GSE14664 100069844 100069876 32 0
H3ac HepG2E 100101933 100102625 692 0
Oct1 H2O2-HelaGSE14283 100020457 100020503 46 0
Oct1 H2O2-HelaGSE14283 100064809 100064846 37 0
Oct1 HelaGSE14283 100020457 100020503 46 0
Oct1 HelaGSE14283 100064809 100064849 40 0
Oct1 HelaGSE14283 100097180 100097249 69 0
PHF8 293TGSE20725 100102558 100103878 1320 0
PHF8 HeLaGSE20725 100102478 100103842 1364 0
hScc1 BcellGSE12603 100014336 100014610 274 0
hScc1 BcellGSE12603 100102478 100103745 1267 0
hScc1 CdLSGSE12603 100014299 100014610 311 0
hScc1 CdLSGSE12603 100018894 100019658 764 0
hScc1 CdLSGSE12603 100102625 100103781 1156 0
hScc1 G2GSE9613 100014412 100014610 198 0
hScc1 G2GSE9613 100019066 100019623 557 0
hScc1 G2GSE9613 100102652 100103429 777 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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