AutismKB 2.0

Annotation Detail for TFR2


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Basic Information Top
Gene Symbol:TFR2 ( HFE3,MGC126368,TFRC2 )
Gene Full Name: transferrin receptor 2
Band: 7q22.1
Quick LinksEntrez ID:7036; OMIM: 604720; Uniprot ID:TFR2_HUMAN; ENSEMBL ID: ENSG00000106327; HGNC ID: 11762
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26Endocytosis signal (Potential).
240N-linked (GlcNAc...) (Potential).
339N-linked (GlcNAc...).
540N-linked (GlcNAc...) (Potential).
754N-linked (GlcNAc...).
Location(AA) Modifications Resource
240N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
339N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
540N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
754N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(IKK)HMM predict
23Phosphotyrosine(SRC)HMM predict
23Phosphotyrosine(Syk)HMM predict
124Phosphotyrosine(Syk)HMM predict
124SulfotyrosineHMM predict
232Phosphotyrosine(Syk)HMM predict
240N-linkedHMM predict
305Phosphoserine(ATM)HMM predict
314O-linkedHMM predict
339N-linkedHMM predict
426Phosphotyrosine(INSR)HMM predict
443O-linkedHMM predict
483Phosphoserine(IKK)HMM predict
540N-linkedHMM predict
547Phosphotyrosine(Abl)HMM predict
554N-linkedHMM predict
594SulfotyrosineHMM predict
604Phosphotyrosine(INSR)HMM predict
604Phosphotyrosine(Syk)HMM predict
604Phosphotyrosine(SRC)HMM predict
670Phosphothreonine(PKC)HMM predict
694Phosphoserine(CK1)HMM predict
723Phosphoserine(CDC2)HMM predict
723Phosphoserine(IKK)HMM predict
727Phosphoserine(CDC2)HMM predict
754N-linkedHMM predict
756O-linkedHMM predict
762O-linkedHMM predict
764O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003227
  • Location:chr7 100055975-100077108
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata1 K562GSE18868 100076685 100077546 861 7
Gata2 K562GSE18868 100076301 100078640 2339 362
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100056421 100056742 321 0
CTCF G2GSE9613 100064833 100065115 282 0
CTCF G2GSE9613 100067491 100067733 242 0
CTCF G2GSE9613 100068446 100069221 775 0
CTCF G2GSE9613 100069579 100069875 296 0
ER Fulvestrant-MCF7GSE14664 100059174 100059210 36 0
ER Fulvestrant-MCF7GSE14664 100074344 100074376 32 0
Oct1 HelaGSE14283 100059158 100059218 60 0
Oct1 HelaGSE14283 100074345 100074379 34 0
PHF8 HeLaGSE20725 100068399 100069785 1386 0
Rb SenescentGSE19898 100068782 100069216 434 0
Rb shRbSenescenceGSE19898 100068688 100068863 175 0
TAF HelaGSE8489 100069615 100070449 834 0
TFAP2C MCF7GSE21234 100064799 100065280 481 0
hScc1 G2GSE9613 100064982 100065115 133 0
p130 QuiescentGSE19898 100062263 100062418 155 0
p130 SenescentGSE19898 100068968 100069189 221 0
p130 shRbSenescentGSE19898 100068935 100069111 176 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