HSPB3 heat shock protein family B (small) member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HSPB3provided by HGNC
Official Full Name: heat shock protein family B (small) member 3provided by HGNC
Primary source: HGNC:HGNC:5248
See related: Ensembl:ENSG00000169271 MIM:604624; AllianceGenome:HGNC:5248
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: HMN2C; HMND4; DHMN2C; HSPL27
Summary: This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (54455699..54456377)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (55283264..55283942)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (53751529..53752207)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
Title: PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
Evaluation of the Small Heat Shock Protein Family Members HSPB2 and HSPB3 in Bladder Cancer Prognosis and Progression.
Title: Evaluation of the Small Heat Shock Protein Family Members HSPB2 and HSPB3 in Bladder Cancer Prognosis and Progression.
Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
Title: Small heat-shock protein HSPB3 promotes myogenesis by regulating the lamin B receptor.
High HSPB3 expression is associated with poor relapse-free survival (RFS) and overall survival (OS) of patients with colorectal adenocarcinoma.
Title: Heat shock protein beta 3 (HSPB3) is an unfavorable molecular biomarker in colorectal adenocarcinoma.
We identified a novel HSPB3 mutation (p.Tyr118His) in a Korean Charcot-Marie-Tooth disease type 2 family
Title: Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
HSPB2 competes with HSPB8 for binding to BAG3. In contrast, HSPB3 negatively regulates HSPB2 association with BAG3.
Title: An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8.
This study showed that the endogenous HSPB3 protein distribution in the spinal cords of chicken and mouse embryos and in the postnatal nervous system of human.
Title: HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration.
HspB3 exhibits chaperone-like activity.
Title: Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension".
an HSPB3 mutation associated with an axonal motor neuropathy
Title: Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
Our results suggest that a variety of oligomers composed of different proportions of different sHSPs may form in cell types expressing multiple sHSPs.
Title: Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3.

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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
Neuronopathy, distal hereditary motor, type 2C MedGen: C3150619 OMIM: 613376 GeneReviews: Not available	Compare labs

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

NoName (e-PCR)
- UniSTS:494604

NoName (e-PCR)
- UniSTS:482422

RH65243 (e-PCR)
- UniSTS:85914

HSPB3_202 (e-PCR)
- UniSTS:280770

NoName (e-PCR)
- UniSTS:486904

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in response to unfolded protein	TAS Traceable Author Statement 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
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: heat shock protein beta-3

Names: HSP 17; heat shock 17 kDa protein; heat shock 27kDa protein 3; protein 3

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_027758.1 RefSeqGene

Range

5099..5777

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006308.3 → NP_006299.1 heat shock protein beta-3

See identical proteins and their annotated locations for NP_006299.1

Status: REVIEWED

Source sequence(s)

BX106905, N74672, U15590

Consensus CDS

CCDS3961.1

UniProtKB/Swiss-Prot

Q12988

UniProtKB/TrEMBL

Q6ICS9

Related

ENSP00000303394.1, ENST00000302005.3

Conserved Domains (1) summary

cd06477
Location:63 → 145

ACD_HspB3_Like; Alpha crystallin domain (ACD) found in mammalian HspB3, also known as heat-shock protein 27-like protein (HSPL27, 17-kDa) and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are ...