AutismKB 2.0

Annotation Detail for SLC12A6


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Basic Information Top
Gene Symbol:SLC12A6 ( ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 6
Band: 15q14
Quick LinksEntrez ID:9990; OMIM: 604878; Uniprot ID:S12A6_HUMAN; ENSEMBL ID: ENSG00000140199; HGNC ID: 10914
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
32Phosphoserine.
504N-linked (GlcNAc...) (Potential).
895N-linked (GlcNAc...) (Potential).
1007Phosphoserine (By similarity).
1029Phosphoserine.
1032Phosphoserine.
Location(AA) Modifications Resource
504N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
895N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1032Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
12Phosphoserine(CAMK2)HMM predict
37O-linkedHMM predict
39Phosphoserine(CK1)HMM predict
46O-linkedHMM predict
50Phosphoserine(CK1)HMM predict
50Phosphoserine(IKK)HMM predict
55O-linkedHMM predict
64Phosphoserine(IKK)HMM predict
69O-linkedHMM predict
72O-linkedHMM predict
79O-linkedHMM predict
83Phosphoserine(CK1)HMM predict
93Phosphoserine(ATM)HMM predict
102Phosphoserine(ATM)HMM predict
118N-linkedHMM predict
119N-linkedHMM predict
121N-linkedHMM predict
122Phosphotyrosine(INSR)HMM predict
155N-linkedHMM predict
158N-linkedHMM predict
171N-linkedHMM predict
228S-palmitoylHMM predict
229S-palmitoylHMM predict
230S-palmitoylHMM predict
379N-linkedHMM predict
398N-linkedHMM predict
411N-linkedHMM predict
417N-linkedHMM predict
428N-linkedHMM predict
813Phosphothreonine(PKC)HMM predict
883O-linkedHMM predict
895N-linkedHMM predict
1007Phosphoserine(PKG)HMM predict
1032Phosphoserine(CK2)HMM predict
1041Phosphotyrosine(SRC)HMM predict
1041Phosphotyrosine(EGFR)HMM predict
1121Phosphotyrosine(INSR)HMM predict
1121Phosphotyrosine(EGFR)HMM predict
1121Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042494
  • Location:chr15 32309489-32417252
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 32416165 32416944 779 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
8617 EST chr15 32334778 32337325 254 mRNA SLC12A6 chr15 32312957 32398222Sense/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