Format

Send to:

Choose Destination

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

Gene ID: 26353, updated on 29-May-2016
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 HPRD:06420; MIM:608014; Vega:OTTHUMG00000168932
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; HSP22
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]
Orthologs
Location:
12q24.23
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (119178790..119194746)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (119616595..119632551)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene serine/arginine repetitive matrix 4 Neighboring gene uncharacterized LOC105370021 Neighboring gene uncharacterized LOC102723712 Neighboring gene uncharacterized LOC105370024 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene uncharacterized LOC105370026

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Charcot-Marie-Tooth disease, type 2L Compare labs
Distal hereditary motor neuronopathy type 2A
MedGen: C1834692 OMIM: 158590 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
protein kinase H11
small stress protein-like protein HSP22

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

  1. NG_007953.2 RefSeqGene

    Range
    5001..20957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_249

mRNA and Protein(s)

  1. NM_014365.2NP_055180.1  heat shock protein beta-8

    See identical proteins and their annotated locations for NP_055180.1

    Status: REVIEWED

    Source sequence(s)
    AF191017, AF217987, BC002673
    Consensus CDS
    CCDS9189.1
    UniProtKB/Swiss-Prot
    Q9UJY1
    Related
    ENSP00000281938, OTTHUMP00000239768, ENST00000281938, OTTHUMT00000401647
    Conserved Domains (2) summary
    cd06480
    Location:80170
    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 ...
    COG0071
    Location:105173
    IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    119178790..119194746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    119584428..119600385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)