AutismKB 2.0

Annotation Detail for TCN2


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Basic Information Top
Gene Symbol:TCN2 ( D22S676,D22S750,II,TC,TC II,TC-2,TC2,TCII )
Gene Full Name: transcobalamin II
Band: 22q12.2
Quick LinksEntrez ID:6948; OMIM: 613441; Uniprot ID:TCO2_HUMAN; ENSEMBL ID: ENSG00000185339; HGNC ID: 11653
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
46Phosphoserine(CK1)HMM predict
165S-palmitoylHMM predict
205S-palmitoylHMM predict
220Phosphothreonine(PKA)HMM predict
225Phosphothreonine(PKC)HMM predict
235Phosphothreonine(CDC2)HMM predict
235Phosphothreonine(MAPK)HMM predict
244Phosphotyrosine(Abl)HMM predict
267S-palmitoylHMM predict
290Phosphoserine(ATM)HMM predict
375O-linkedHMM predict
377O-linkedHMM predict
380Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000355
  • Location:chr22 29333160-29353046
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 29331611 29331828 217 1441
CTCF CD4SISSRdata 29331611 29331828 217 1441
CTCF G2GSE9613 29331461 29331786 325 1537
USF1 HepG2E 29331850 29332179 329 1146
hScc1 BcellGSE12603 29331497 29331786 289 1519
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 29356723 29356947 224 3789
TFAP2C MCF7GSE21234 29354256 29354776 520 1470
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 29334798 29336263 1465 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