AutismKB 2.0

Annotation Detail for SLC7A2


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Basic Information Top
Gene Symbol:SLC7A2 ( ATRC2,CAT2,HCAT2 )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
Band: 8p22
Quick LinksEntrez ID:6542; OMIM: 601872; Uniprot ID:CTR2_HUMAN; ENSEMBL ID: ENSG00000003989; HGNC ID: 11060
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
157N-linked (GlcNAc...) (Potential).
227N-linked (GlcNAc...) (Potential).
239N-linked (GlcNAc...) (Potential).
646Phosphoserine.
Location(AA) Modifications Resource
157N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
227N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
239N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13S-palmitoylHMM predict
21Phosphothreonine(PKC)HMM predict
157N-linkedHMM predict
164Phosphotyrosine(EGFR)HMM predict
239N-linkedHMM predict
257O-linkedHMM predict
345O-linkedHMM predict
352Phosphoserine(IKK)HMM predict
352Phosphoserine(CK1)HMM predict
446Phosphoserine(ATM)HMM predict
455Phosphoserine(CDC2)HMM predict
459O-linkedHMM predict
459Phosphothreonine(PKC)HMM predict
460Phosphoserine(CK1)HMM predict
460Phosphoserine(PKB)HMM predict
464Phosphoserine(IKK)HMM predict
464Phosphoserine(ATM)HMM predict
621Phosphotyrosine(EGFR)HMM predict
621SulfotyrosineHMM predict
644N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001008539
  • Location:chr8 17445205-17472295
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PolII HeLaGSE12783 17471027 17474684 3657 560
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 17446382 17446681 299 0
RARA MCF7GSE15244 17444889 17445648 759 0
RARG MCF7GSE15244 17444889 17445533 644 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