HSPB8 heat shock protein family B (small) member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPB8provided by HGNC
Official Full Name: heat shock protein family B (small) member 8provided by HGNC
Primary source: HGNC:HGNC:30171
See related: Ensembl:ENSG00000152137 MIM:608014; AllianceGenome:HGNC:30171
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H11; HMN2; CMT2L; DHMN2; E2IG1; HMN2A; HMND2; HSP22; HSPB8-N1; HSPB8-N2
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-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
Expression: Broad expression in heart (RPKM 181.8), esophagus (RPKM 96.6) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (119178931..119194746)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (119166359..119182179)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (119616736..119632551)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of heat shock protein B8 in neuronal protection against oxidative stress and mitochondrial dysfunction: A literature review.
Title: The role of heat shock protein B8 in neuronal protection against oxidative stress and mitochondrial dysfunction: A literature review.
Identification of Alternatively Spliced Novel Isoforms of Human HSPB8 Gene.
Title: Identification of Alternatively Spliced Novel Isoforms of Human HSPB8 Gene.
Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2) Participates in the Progression of Gastric Cancer via Interaction with Heat Shock Protein B8 (HSPB8).
Title: Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2) Participates in the Progression of Gastric Cancer via Interaction with Heat Shock Protein B8 (HSPB8).
Identification of HSPB8 modulators counteracting misfolded protein accumulation in neurodegenerative diseases.
Title: Identification of HSPB8 modulators counteracting misfolded protein accumulation in neurodegenerative diseases.
Macrophage-specific autophagy-related gene HSPB8 is involved in the macrophage polarization in atherosclerosis.
Title: Macrophage-specific autophagy-related gene HSPB8 is involved in the macrophage polarization in atherosclerosis.
CircAGO2 promotes colorectal cancer progression by inhibiting heat shock protein family B (small) member 8 via miR-1-3p/retinoblastoma binding protein 4 axis.
Title: CircAGO2 promotes colorectal cancer progression by inhibiting heat shock protein family B (small) member 8 via miR-1-3p/retinoblastoma binding protein 4 axis.
HSPB8 facilitates prostate cancer progression via activating the JAK/STAT3 signaling pathway.
Title: HSPB8 facilitates prostate cancer progression via activating the JAK/STAT3 signaling pathway.
HSPB8 counteracts tumor activity of BRAF- and NRAS-mutant melanoma cells by modulation of RAS-prenylation and autophagy.
Title: HSPB8 counteracts tumor activity of BRAF- and NRAS-mutant melanoma cells by modulation of RAS-prenylation and autophagy.
[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].
Title: [Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Title: A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease axonal type 2L MedGen: C1837552 OMIM: 608673 GeneReviews: Not available	Compare labs
Neuronopathy, distal hereditary motor, type 2A MedGen: C1834692 OMIM: 158590 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56631 (e-PCR)
- UniSTS:51968

A002J47 (e-PCR)
- UniSTS:76822

D12S76 (e-PCR)
- UniSTS:54151

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
NOT enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to unfolded protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to unfolded protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aggrephagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein folding chaperone complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein folding chaperone complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: heat shock protein beta-8

Names: E2-induced gene 1 protein; alpha-crystallin C chain; heat shock 22kDa protein 8; heat shock 27kDa protein 8; heat shock protein family B member 8; protein kinase H11; small stress protein-like protein HSP22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007953.2 RefSeqGene

Range

5001..20957

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_249

mRNA and Protein(s)

NM_014365.3 → NP_055180.1 heat shock protein beta-8

See identical proteins and their annotated locations for NP_055180.1

Status: REVIEWED

Source sequence(s)

BC002673

Consensus CDS

CCDS9189.1

UniProtKB/Swiss-Prot

B2R6A6, Q6FIH3, Q9UJY1, Q9UKS3

Related

ENSP00000281938.3, ENST00000281938.7

Conserved Domains (1) summary

cd06480
Location:80 → 170

ACD_HspB8_like; Alpha-crystallin domain (ACD) found in mammalian 21.6 KDa small heat shock protein (sHsp) HspB8, also denoted as Hsp22 in humans, and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and ...