Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26353
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family B (small) member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPB8
Synonyms (NCBI Gene) Gene synonyms aliases
CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HMND2, HSP22, HSPB8-N1, HSPB8-N2, MFM13
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608014 30171 ENSG00000152137
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2L rs1565929090, rs104894351, rs104894345 N/A
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease rs104894345 N/A
Distal Hereditary Motor Neuronopathy Neuronopathy, distal hereditary motor, type 2A rs1565929080, rs104894345, rs104894351 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome N/A N/A GenCC
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Associations from Text Mining Disease 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