Gene Gene information from NCBI Gene database.
Entrez ID 126393
Gene name Heat shock protein family B (small) member 6
Gene symbol HSPB6
Synonyms (NCBI Gene)
HEL55Hsp20PPP1R91
Chromosome 19
Chromosome location 19q13.12
Summary This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT004508 hsa-miR-320a Luciferase reporter assay 19380620
MIRT572330 hsa-miR-6783-5p PAR-CLIP 20371350
MIRT572329 hsa-miR-29b-1-5p PAR-CLIP 20371350
MIRT572328 hsa-miR-3120-5p PAR-CLIP 20371350
MIRT572327 hsa-miR-6132 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005576 Component Extracellular region IDA 22427880
GO:0005576 Component Extracellular region IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 19464326
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610695 26511 ENSG00000004776
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14558
Protein name Heat shock protein beta-6 (HspB6) (Heat shock 20 kDa-like protein p20) (Heat shock protein family B member 6)
Protein function Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function
PDB 4JUS , 4JUT , 5LTW , 5LU1 , 5LU2 , 5LUM , 5OK9 , 5OKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00525 Crystallin 3 62 Alpha crystallin A chain, N terminal Family
PF00011 HSP20 66 158 Hsp20/alpha crystallin family Family
Sequence
Sequence length 160
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 24859569 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25187324
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35132081 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 17487383, 24223153, 27046040, 28456666 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Cardiomegaly Pubtator 38172650 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 29157081, 29761889
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 36918127 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 18790732, 29157081
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 29157081
★☆☆☆☆
Found in Text Mining only
Cerebral Amyloid Angiopathy Cerebral amyloid angiopathy BEFREE 16635482
★☆☆☆☆
Found in Text Mining only