ENSG00000152137


Homo sapiens

Features
Gene ID: ENSG00000152137
  
Biological name :HSPB8
  
Synonyms : heat shock protein family B (small) member 8 / HSPB8 / Q9UJY1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q24.23
Gene start: 119178642
Gene end: 119221131
  
Corresponding Affymetrix probe sets: 221667_s_at (Human Genome U133 Plus 2.0 Array)   233057_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000281938
Ensembl peptide - ENSP00000441541
NCBI entrez gene - 26353     See in Manteia.
OMIM - 608014
RefSeq - NM_014365
RefSeq Peptide - NP_055180
swissprot - Q9UJY1
swissprot - H0YG30
Ensembl - ENSG00000152137
  
Related genetic diseases (OMIM): 158590 - Neuropathy, distal hereditary motor, type IIA, 158590
  608673 - Charcot-Marie-Tooth disease, axonal, type 2L, 608673
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hspb8ENSDARG00000058365Danio rerio
 HSPB8ENSGALG00000007383Gallus gallus
 Hspb8ENSMUSG00000041548Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HSPB1 / P04792 / heat shock protein family B (small) member 1ENSG0000010621136
CRYAB / P02511 / crystallin alpha BENSG0000010984628
HSPB2-C11orf52 / HSPB2-C11orf52 readthrough (NMD candidate)ENSG0000025444523
HSPB2 / Q16082 / heat shock protein family B (small) member 2ENSG0000017027623
HSPB6 / O14558 / heat shock protein family B (small) member 6ENSG0000000477623
CRYAA2 / crystallin alpha A2ENSG0000027607622
CRYAA / P02489 / crystallin alpha AENSG0000016020222
HSPB3 / Q12988 / heat shock protein family B (small) member 3ENSG0000016927115


Protein motifs (from Interpro)
Interpro ID Name
 IPR001436  Alpha crystallin/Heat shock protein
 IPR002068  Alpha crystallin/Hsp20 domain
 IPR008978  HSP20-like chaperone
 IPR031107  Small heat shock protein HSP20


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 biological_processGO:1900034 regulation of cellular response to heat TAS
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
HSF1-dependent transactivation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001284 Areflexia 
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 HP:0001425 Heterogeneous 
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 HP:0001761 Pes cavus 
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002522 Areflexia in lower limbs 
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 HP:0002600 Hyporeflexia of lower limbs 
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 HP:0002601 Paresis of extensor muscles of the big toe is presenting symptom 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003387 Loss of large myelinated fibers 
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 HP:0003444 EMG shows chronic denervation 
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 HP:0003445 EMG shows neuropathic changes 
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 HP:0003477 Axonal neuropathy 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0007078 Decreased or absent sensory nerve action potentials 
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 HP:0009053 Muscle weakness, lower limb, distal "Weakness of the distal muscles of the legs." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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