AutismKB 2.0

Annotation Detail for SLC34A3


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Basic Information Top
Gene Symbol:SLC34A3 ( FLJ38680,HHRH,NPTIIc )
Gene Full Name: solute carrier family 34 (sodium phosphate), member 3
Band: 9q34.3
Quick LinksEntrez ID:142680; OMIM: 609826; Uniprot ID:NPT2C_HUMAN; ENSEMBL ID: ENSG00000198569; HGNC ID: 20305
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
265N-linked (GlcNAc...) (Potential).
268N-linked (GlcNAc...) (Potential).
286N-linked (GlcNAc...) (Potential).
299N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
265N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
268N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
286N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
299N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphoserine(ATM)HMM predict
8O-linkedHMM predict
54Phosphoserine(ATM)HMM predict
135O-linkedHMM predict
138Phosphoserine(CK1)HMM predict
140O-linkedHMM predict
152Phosphothreonine(PKC)HMM predict
171O-linkedHMM predict
175Phosphoserine(IKK)HMM predict
230Phosphothreonine(MAPK)HMM predict
265N-linkedHMM predict
268N-linkedHMM predict
299N-linkedHMM predict
300Phosphoserine(PKG)HMM predict
338S-palmitoylHMM predict
392O-linkedHMM predict
424O-linkedHMM predict
426O-linkedHMM predict
570S-palmitoylHMM predict
581Phosphothreonine(PKC)HMM predict
582Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080877
  • Location:chr9 139245205-139250826
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 139250796 139251056 260 100
CTCF CD4SISSRdata 139250796 139251056 260 100
NFkBII GM10847GSE19485 139250308 139251610 1302 133
NFkBII GM12892GSE19485 139250398 139251702 1304 224
NFkBII GM15510GSE19485 139250396 139251562 1166 153
NFkBII GM18526GSE19485 139250419 139251641 1222 204
Rb QuiescentGSE19898 139250794 139251129 335 135
Rb SenescentGSE19898 139250838 139251121 283 153
VDR GM10855-stimGSE22484 139250626 139251517 891 245
No data
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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