AutismKB 2.0

Annotation Detail for HSPB8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HSPB8 ( CMT2L,DHMN2,E2IG1,H11,HMN2,HMN2A,HSP22 )
Gene Full Name: heat shock 22kDa protein 8
Band: 12q24.23
Quick LinksEntrez ID:26353; OMIM: 608014; Uniprot ID:HSPB8_HUMAN; ENSEMBL ID: ENSG00000152137; HGNC ID: 30171
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
24Phosphoserine.
63Phosphothreonine; by PKC; in vitro.
118Phosphotyrosine.
Location(AA) Modifications Resource
14Phosphoserine (PKC
27Phosphoserine (MAP2K1)Phospho.ELM 6.0
63Phosphothreonine; by PKC; in vitro.Swiss-Prot 53.0
63Phosphothreonine (PKC
87Phosphothreonine (MAP2K1)Phospho.ELM 6.0
Location(AA) Modification Resource
24Phosphoserine(CDC2)HMM predict
87O-linkedHMM predict
87Phosphothreonine(MAPK)HMM predict
118Phosphotyrosine(EGFR)HMM predict
118Phosphotyrosine(INSR)HMM predict
118Phosphotyrosine(Jak)HMM predict
138N-linkedHMM predict
159Phosphoserine(MAPK)HMM predict
190Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014365
  • Location:chr12 118100977-118116932
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 118095387 118095637 250 5466
CTCF G2GSE9613 118097206 118097460 254 3645
CTCF G2GSE9613 118098570 118098704 134 2341
ER MCF7GSE19013 118093234 118094424 1190 7149
ER MCF7GSE19013 118100488 118101193 705 137
RARA MCF7GSE15244 118099010 118099433 423 1756
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF-mono JurkatQuESTdata 118130706 118130984 278 13913
NRSF-poly JurkatQuESTdata 118130706 118131032 326 13937
Oct1 H2O2-HelaGSE14283 118118778 118118813 35 1863
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 118110064 118110383 319 0
ER MCF7GSE19013 118101409 118102236 827 0
RARA MCF7GSE15244 118101850 118102345 495 0
RARG MCF7GSE15244 118101899 118102345 446 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