Gene Gene information from NCBI Gene database.
Entrez ID 26353
Gene name Heat shock protein family B (small) member 8
Gene symbol HSPB8
Synonyms (NCBI Gene)
CMT2LDHMN2E2IG1H11HMN2HMN2AHMND2HSP22HSPB8-N1HSPB8-N2MFM13
Chromosome 12
Chromosome location 12q24.23
Summary The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-posi
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs35909818 C>A,G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs55826713 G>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs60924821 TAATAA>-,TAA,TAATAATAA,TAATAATAATAA,TAATAATAATAATAA,TAATAATAATAATAATAA,TAATAATAATAATAATAATAA Uncertain-significance, conflicting-interpretations-of-pathogenicity 3 prime UTR variant
rs373049356 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs1565930588 TACTCAACATTTGG>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
496
miRTarBase ID miRNA Experiments Reference
MIRT036507 hsa-miR-1226-3p CLASH 23622248
MIRT502215 hsa-miR-1296-3p PAR-CLIP 24398324
MIRT502214 hsa-miR-4491 PAR-CLIP 24398324
MIRT502213 hsa-miR-4657 PAR-CLIP 24398324
MIRT502212 hsa-miR-128-3p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity IDA 14985082
GO:0005515 Function Protein binding IPI 14594798, 16189514, 18006506, 21516116, 22366786, 23414517, 25036637, 25416956, 26496610, 28144995, 28514442, 31273097, 32296183, 32707033, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 19464326
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608014 30171 ENSG00000152137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJY1
Protein name Heat shock protein beta-8 (HspB8) (Alpha-crystallin C chain) (E2-induced gene 1 protein) (Heat shock protein family B member 8) (Protein kinase H11) (Small stress protein-like protein HSP22)
Protein function Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Displays temperature-dependent chaperone activity. {ECO:0000250|U
PDB 8S7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00011 HSP20 93 180 Hsp20/alpha crystallin family Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart. {ECO:0000269|PubMed:11470154}.
Sequence
MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAW
PGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVE
VSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSPEGLLIIEAPQVPPYSTFGES

SFNNELPQDSQEVTCT
Sequence length 196
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HSF1-dependent transactivation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
270
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Pathogenic rs104894345 RCV000192250
Charcot-Marie-Tooth disease axonal type 2L Likely pathogenic; Pathogenic rs2500054710, rs104894351, rs104894345, rs2500054682, rs1565929090, rs1954727878 RCV002290198
RCV001216811
RCV000002737
RCV002472046
RCV000678501
RCV001249293
Distal myopathy Likely pathogenic rs1565930588 RCV000708586
HSPB8-related neuromuscular disorder Likely pathogenic; Pathogenic rs1954727678 RCV004004919
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs1133026 RCV005893071
Charcot-Marie-Tooth disease type 2 Uncertain significance; Conflicting classifications of pathogenicity rs886049028, rs60924821 RCV000342451
RCV000314864
RCV000349752
Distal spinal muscular atrophy Uncertain significance; Conflicting classifications of pathogenicity rs886049028, rs60924821 RCV004576943
RCV004576944
RCV004576945
HSPB8-related disorder Likely benign; Benign rs1448722290, rs949273182, rs143010542, rs1401613594 RCV003921768
RCV003901601
RCV003892790
RCV003920391
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35029906, 37322027
Amyotrophic Lateral Sclerosis Associate 31152038
Atherosclerosis Inhibit 36934244
Autistic Disorder Associate 18378158
Brain Diseases Associate 18378158
Brain Infarction Associate 39736019
Breast Neoplasms Associate 18229450, 28060751, 29345254, 30596229
Carcinogenesis Associate 33885248
Carcinoma Hepatocellular Associate 28456666
Cerebral Infarction Associate 39736019