AutismKB 2.0

Annotation Detail for SLC12A5


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Basic Information Top
Gene Symbol:SLC12A5 ( KCC2,KIAA1176 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporter), member 5
Band: 20q13.12
Quick LinksEntrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
442N-linked (GlcNAc...) (Potential).
833N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
419N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
810N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
30N-linkedHMM predict
40Phosphotyrosine(INSR)HMM predict
67N-linkedHMM predict
70N-linkedHMM predict
99PhosphothreonineHMM predict
140S-palmitoylHMM predict
220Phosphoserine(CK2)HMM predict
239O-linkedHMM predict
291N-linkedHMM predict
310N-linkedHMM predict
328N-linkedHMM predict
339N-linkedHMM predict
435O-linkedHMM predict
442O-linkedHMM predict
446Phosphotyrosine(Jak)HMM predict
580Phosphothreonine(CDK)HMM predict
693Phosphoserine(IKK)HMM predict
810N-linkedHMM predict
822Phosphoserine(CK1)HMM predict
984O-linkedHMM predict
986O-linkedHMM predict
988Phosphoserine(CDC2)HMM predict
988Phosphoserine(MAPK)HMM predict
988Phosphoserine(ATM)HMM predict
1007PhosphothreonineHMM predict
1022Phosphoserine(CDC2)HMM predict
1025Phosphoserine(CK2)HMM predict
1043N-linkedHMM predict
1046N-linkedHMM predict
1087Phosphotyrosine(EGFR)HMM predict
1087Phosphotyrosine(INSR)HMM predict
1087Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020708
  • Location:chr20 44091244-44122195
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44085007 44085295 288 6094
CTCF CD4SISSRdata 44085007 44085295 288 6094
CTCF HelaGSE12889 44085020 44085192 172 6139
NRSF JurkatGSE13047 44088341 44093583 5242 283
NRSF mAbJurkat 44085253 44087019 1766 5109
NRSF mAbJurkat 44087325 44090710 3385 2227
NRSF-poly JurkatQuESTdata 44088219 44092299 4080 986
hScc1 BcellGSE12603 44084769 44085712 943 6004
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44091289 44091993 704 0
Myc hESGSE17917 44091483 44091712 229 0
Myc hESGSE17917 44121079 44121327 248 0
NRSF JurkatGSE13047 44093856 44094654 798 0
NRSF JurkatGSE13047 44102061 44105975 3914 0
NRSF JurkatGSE13047 44118860 44120000 1140 0
NRSF JurkatSISSRdata 44119193 44119831 638 0
NRSF mAbJurkat 44091430 44092270 840 0
NRSF mAbJurkat 44094518 44097196 2678 0
NRSF mAbJurkat 44098293 44100091 1798 0
NRSF mAbJurkat 44100635 44100982 347 0
NRSF mAbJurkat 44102368 44105710 3342 0
NRSF mAbJurkat 44106022 44108720 2698 0
NRSF mAbJurkat 44109907 44110600 693 0
NRSF mAbJurkat 44110938 44112022 1084 0
NRSF mAbJurkat 44112400 44112965 565 0
NRSF mAbJurkat 44116715 44119642 2927 0
NRSF-mono JurkatQuESTdata 44088442 44094313 5871 0
NRSF-mono JurkatQuESTdata 44096859 44097195 336 0
NRSF-mono JurkatQuESTdata 44102115 44104017 1902 0
NRSF-mono JurkatQuESTdata 44105081 44105941 860 0
NRSF-mono JurkatQuESTdata 44118988 44119959 971 0
NRSF-poly JurkatQuESTdata 44102117 44104579 2462 0
NRSF-poly JurkatQuESTdata 44118498 44120000 1502 0
Nanog hESGSE18292 44099680 44100038 358 0
Sox2 hESGSE18292 44099833 44100236 403 0
TFAP2C MCF7GSE21234 44091507 44091953 446 0
hScc1 BcellGSE12603 44093680 44094175 495 0
hScc1 BcellGSE12603 44118268 44118524 256 0
hScc1 BcellGSE12603 44119287 44120211 924 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1271 hsa-mir-1271 5 20864449
hsa-miR-96 hsa-mir-96 7 20864449
hsa-miR-96* hsa-mir-96 7 20864449
No data
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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