AutismKB 2.0

Annotation Detail for CLCN2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CLCN2 ( CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8 )
Gene Full Name: chloride channel 2
Band: 3q27.1
Quick LinksEntrez ID:1181; OMIM: 600570; Uniprot ID:CLCN2_HUMAN; ENSEMBL ID: ENSG00000114859; HGNC ID: 2020
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
165Selectivity filter part_1 (By
207Selectivity filter part_2 (By
461Selectivity filter part_3 (By
Location(AA) Modifications Resource
Location(AA) Modification Resource
75S-palmitoylHMM predict
230Phosphotyrosine(INSR)HMM predict
392Phosphoserine(ATM)HMM predict
403N-linkedHMM predict
514O-linkedHMM predict
553Phosphotyrosine(INSR)HMM predict
655Phosphothreonine(PKC)HMM predict
655Phosphothreonine(PKA)HMM predict
658Phosphoserine(IKK)HMM predict
661Phosphoserine(ATM)HMM predict
668Phosphoserine(IKK)HMM predict
668Phosphoserine(ATM)HMM predict
668Phosphoserine(CDC2)HMM predict
668Phosphoserine(MAPK)HMM predict
712Phosphoserine(CDC2)HMM predict
731Phosphoserine(CDC2)HMM predict
738Phosphoserine(CK2)HMM predict
755Phosphoserine(PKG)HMM predict
767Phosphoserine(CK2)HMM predict
784N-linkedHMM predict
860O-linkedHMM predict
863O-linkedHMM predict
863Phosphoserine(CK1)HMM predict
889Phosphoserine(PKB)HMM predict
889Phosphoserine(IKK)HMM predict
891Phosphoserine(CK2)HMM predict
891Phosphoserine(ATM)HMM predict
897S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004366
  • Location:chr3 185547088-185561960
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 185561820 185562360 540 130
H3ac HepG2E 185562541 185563085 544 853
PHF8 293TGSE20725 185561562 185562750 1188 196
PHF8 HeLaGSE20725 185561366 185564368 3002 907
Rb SenescentGSE19898 185562513 185563262 749 927
hScc1 BcellGSE12603 185561820 185562360 540 130
hScc1 CdLSGSE12603 185561930 185562458 528 234
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 185554771 185555050 279 0
CTCF CD4SISSRdata 185554771 185555050 279 0
CTCF G2GSE9613 185547045 185547453 408 0
CTCF G2GSE9613 185552250 185555595 3345 0
CTCF G2GSE9613 185556139 185556479 340 0
CTCF G2GSE9613 185557215 185558138 923 0
CTCF G2GSE9613 185558776 185559396 620 0
CTCF G2GSE9613 185560074 185560401 327 0
hScc1 G2GSE9613 185554521 185555595 1074 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
19100 mRNA MGC21688 chr3 185540959 185546764 86 mRNA CLCN2 chr3 185546678 185562092Sense/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