AutismKB 2.0

Annotation Detail for IGHMBP2


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Basic Information Top
Gene Symbol:IGHMBP2 ( CATF1,FLJ34220,FLJ41171,HCSA,HMN6,SMARD1,SMUBP2 )
Gene Full Name: immunoglobulin mu binding protein 2
Band: 11q13.3
Quick LinksEntrez ID:3508; OMIM: 600502; Uniprot ID:SMBP2_HUMAN; ENSEMBL ID: ENSG00000132740; HGNC ID: 5542
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
656Phosphoserine.
868Nuclear localization signal (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
30Phosphoserine(PKA)HMM predict
110Phosphothreonine(PKA)HMM predict
177Phosphoserine(CDC2)HMM predict
177Phosphoserine(MAPK)HMM predict
205Phosphoserine(ATM)HMM predict
241S-palmitoylHMM predict
410O-linkedHMM predict
508Phosphoserine(CK1)HMM predict
602Phosphothreonine(PKC)HMM predict
650N-linkedHMM predict
655N-linkedHMM predict
656Phosphoserine(CK1)HMM predict
672O-linkedHMM predict
673O-linkedHMM predict
677Phosphoserine(ATM)HMM predict
677Phosphoserine(CAMK2)HMM predict
677PhosphoserineHMM predict
704O-linkedHMM predict
708Phosphoserine(ATM)HMM predict
708Phosphoserine(CK1)HMM predict
790MethylarginineHMM predict
811O-linkedHMM predict
811Phosphothreonine(MAPK)HMM predict
811Phosphothreonine(CDK)HMM predict
815O-linkedHMM predict
850Phosphoserine(IKK)HMM predict
916S-palmitoylHMM predict
985Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002180
  • Location:chr11 68427947-68464634
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 68427141 68428723 1582 16
P300 T30-glioblastomaGSE21026 68427325 68428504 1179 33
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 68470545 68471227 682 6252
GATA3 MCF7GSE15244 68472228 68472402 174 7681
Myc hESGSE17917 68480120 68480466 346 15659
NRSF pAbJurkat 68483453 68483706 253 18945
hScc1 G2GSE9613 68466253 68466802 549 1893
hScc1 G2GSE9613 68483453 68483636 183 18910
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 68461005 68464876 3871 0
FOXA1 MCF7GSE15244 68428115 68428598 483 0
FOXA1 MCF7GSE15244 68429529 68430426 897 0
GABP k562GSE8489 68429529 68430426 897 0
GATA3 MCF7GSE15244 68429529 68430426 897 0
H3K4me3 colorectalcancer 68428362 68428723 361 0
H3ac HepG2E 68428400 68428723 323 0
H3ac HepG2E 68429529 68430137 608 0
NRSF pAbJurkat 68431369 68431738 369 0
NRSF pAbJurkat 68453630 68454200 570 0
NRSF pAbJurkat 68460790 68461128 338 0
Oct1 HelaGSE14283 68455097 68455161 64 0
RARA MCF7GSE15244 68429529 68430248 719 0
RARG MCF7GSE15244 68429529 68430426 897 0
TAFII hESGSE17917 68427650 68428299 649 0
TFAP2C MCF7GSE21234 68429566 68430515 949 0
hScc1 BcellGSE12603 68427729 68428560 831 0
hScc1 BcellGSE12603 68460687 68461093 406 0
hScc1 BcellGSE12603 68462184 68462362 178 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