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Aliases & Descriptions for HSPB8
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMT2L 2, 5 | | CRYAC 3 | | DHMN2 2, 5 | | E2IG1 1, 2, 3, 5 | | H11 1, 2, 5 | | HMN2 2 | | HMN2A 2, 5 | | HSP22 1, 2, 3 | | HspB8 1, 3 |
| | | Descriptions |
|---|
| Alpha-crystallin C chain 3 | | E2-induced gene 1 2 | | E2-induced gene 1 protein 3 | | Protein kinase H11 2, 3 | | Small stress protein-like protein HSP22 2, 3 | | heat shock 22kDa protein 8 2 | | heat shock 27kDa protein 8 1, 2 | | heat shock protein beta-8 2 |
|
| | Search outside databases for aliases for HSPB8 genePrevious GC identifer: GC12P118028 |
Summaries for HSPB8(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for HSPB8: 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] UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1Function: Displays temperature-dependent chaperone activityGene Wiki entry for HSPB8 |
Genomic Location for HSPB8
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the HSPB8 gene 
Entrez Gene cytogenetic band: 12q24.23 Ensembl cytogenetic band: 12q24.23 HGNC cytogenetic band: 12q24.23HSPB8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P118079:
(about GC identifiers)
Start:
|
118,100,978 bp from pter |
End:
|
118,116,934 bp from pter |
Size:
|
15,957 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000012.10 NT_009775.16
| Proteins for HSPB8
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1 (See
protein sequence)Recommended Name: Heat shock protein beta-8 Size: 196 amino acids; 21604 Da
Subunit: Monomer. Interacts with HSPB1
Caution: Was reported (PubMed:10833516) to have a protein kinase activity and to act as a Mn(2+)-dependent serine-threonine-specific protein kinase
Secondary accessions: Q6FIH3 Q9UKS3Post-translational modifications:
Phosphorylated1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_055180.1
ENSEMBL proteins: ENSP00000281938
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: HSPB8 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for HSPB8: Assays for HSPB8: | Protein
Domains/ Families for HSPB8(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9UJY1
ProtoNet protein and cluster: Q9UJY1 1 Blocks protein family: IPB002068 Heat shock protein Hsp20
UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1Similarity: Belongs to the small heat shock protein (HSP20) family | Gene Function for HSPB8
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014365
Applied Biosystems Silencer® siRNAs for HSPB8
Sigma-Aldrich siRNA and siRNA Panels for HSPB8  Sigma-Aldrich shRNA Panels and shRNA for HSPB8  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014365                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014365                                  untagged cDNA clone in CMV expression vector: NM_014365 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_014365
UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1Function: Displays temperature-dependent chaperone activityInduction: By 17-beta-estradiol2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for HSPB8
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for HSPB8 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for HSPB8 
5/29 Interacting proteins for HSPB8 (ENSP000002819383 Q9UJY11, 2) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- | | GO:0009408 | response to heat |
IEA | -- | About this table
|
Drugs & Compounds for HSPB8(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for HSPB8 1 Novoseek chemical compound relationship for HSPB8 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glycogen |
18.09 |
1 |
15543936 (1) |
About this table
|
Transcripts for HSPB8(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014365
Sigma-Aldrich siRNA and siRNA Panels for HSPB8  Sigma-Aldrich shRNA Panels and shRNA for HSPB8  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_014365 REFSEQ mRNAs for HSPB8 gene: NM_014365.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_014365               OriGene GFP tagged cDNA clone in CMV expression vector: NM_014365                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_014365                                  untagged cDNA clone in CMV expression vector: NM_014365  Additional cDNA sequence: AF133207.1 AF191017.1 AF217987.1 AF250138.1 AK312501.1 AL136936.1 BC002673.2 BT006876.1 CR533453.1 CR590762.1 CR591785.1 CR594671.1 CR597922.1 CR599692.1 CR604459.1 CR607849.1 CR608992.1 CR611633.1 CR611944.1 CR612820.1 CR613252.1 CR614248.1 CR614666.1 CR616260.1 CR617456.1 CR621727.1 11 DOTS entries: DT.118507 DT.97805038 DT.100790665 DT.100791064 DT.95315897 DT.91771456 DT.95127280 DT.95315892 DT.121194272 DT.95315932 DT.40290479 24/347 AceView cDNA sequences (see all 347
):BQ576167 BX396664 CA397786 BQ101004 CR608992 NM_014365 BX396684 BM817930 AA364235 CR614248 CR611944 AI356117 BX397219 BP374630 CR616260 BM726040 BX396468 CR621727 BM704580 AA970409 AL136936 BM682477 CR604459 BU631212
highest scoring ESTs for HSPB8:AA010110 AA147248 AA301673 AA364235 AA364454 AA369616 AA524362 AA526710 AA679011 AA705026 Unigene Cluster for HSPB8: Heat shock 22kDa protein 8 Hs.400095 [show with all ESTs]Unigene Representative Sequence: NM_014365
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000281938
|
Expression for HSPB8
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| HSPB8 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HSPB8
1 / 2 / 3 6 probe-sets matching HSPB8 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTTGGTTGTG
SOURCE GeneReport for Unigene cluster: Hs.400095 UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1Tissue specificity: Predominantly expressed in skeletal muscle and heart |
Orthologs for HSPB8
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for HSPB8 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for HSPB8
ENSEMBL Gene Tree for HSPB8 | Paralogs for HSPB8(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HSPB8 gene
- HSPB22 HSPB32
|
SNPs/Variants for HSPB8(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HSPB8 (up to first 250kb)
|
Disorders & Mutations for HSPB8
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608014 disorders: 158590 608673 UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
Defects in HSPB8 are the cause of distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]; also known as distal hereditary motor neuropathy type IIA or spinal Charcot-Marie-Tooth disease IIA. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective impairment of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs Defects in HSPB8 are the cause of Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]. CMT2L is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy5 Novoseek disease relationships for HSPB8 gene
About this table
GeneTests: HSPB8 Charcot-Marie-Tooth Neuropathy Type 2 Human Gene Mutation Database: HSPB8 Human Genome Epidemiology Navigator: HSPB8 (1 document)
|
Medical News for HSPB8(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HSPB8 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/72 PubMed articles for HSPB8 gene (see all 72
):- A novel human gene similar to the protein kinase (PK) coding domain of the large subunit of herpes simplex virus type 2 ribonucleotide reductase (ICP10) codes for a serine-threonine PK and is expressed in melanoma cells. (PubMed id 10833516)1, 2, 3, 4 Smith C.C.... Aurelian L. (2000)
- Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PubMed id 11085516)2, 3, 4 Charpentier A.H....Aldaz C.M. (2000)
- Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. (PubMed id 15122253)1, 3, 4 Irobi J.... Timmerman V. (2004)
- Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9. (PubMed id 11470154)1, 3, 4 Kappe G.... de Jong W.W. (2001)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)3, 4 Wan D....Gu J. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 (3DHSP27). (PubMed id 11342557)3, 4 Benndorf R.... Welsh M.J. (2001)
- Phosphopeptide derivatization signatures to identify serine and threonine phosphorylated peptides by mass spectrometry. (PubMed id 11816564)3, 4 Molloy M.P. and Andrews P.C. (2001)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)3, 4 Wiemann S.... Poustka A. (2001)
- Induction of Hsp22 (HspB8) by estrogen and the metalloestrogen cadmium in estrogen receptor-positive breast cancer cells. (PubMed id 18229450)1, 3 Sun X....Benndorf R. (2007)
|
Search for HSPB8
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HSPB8
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HSPB8
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HSPB8(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Inherited peripheral neuropathies mutation db | http://www.molgen.ua.ac.be/CMTMutations/ | | GeneReviews | http://www.genetests.org/query?gene=HSPB8 |
|
| | | About This Section
| --
| Services for HSPB8(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for HSPB8:

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Incremental update: 13 Oct 2009
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