HSPB6

heat shock protein family B (small) member 6, the group of Small heat shock proteins|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 19:35754566-35758079

Links

ENSG00000004776 ∙ NCBI:126393 ∙ OMIM:610695 ∙ HGNC:26511 ∙ Uniprot:O14558 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HSPB6 gene.

• not_specified (22 variants)
• not_provided (1 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPB6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144617.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			22			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	22	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSPB6	protein_coding	protein_coding	ENST00000592984	3	3512

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0887	0.775	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	67	104	0.647	0.00000693	962
Missense in Polyphen		27	40.565	0.6656		382
Synonymous	1.75	39	55.6	0.702	0.00000441	373
Loss of Function	1.12	2	4.57	0.437	1.96e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity. {ECO:0000269|PubMed:14717697, ECO:0000269|PubMed:19845507, ECO:0000269|PubMed:20843828, ECO:0000269|PubMed:22427880, ECO:0000305, ECO:0000305|PubMed:22794279}.

Recessive Scores

• pRec: 0.175

Haploinsufficiency Scores

• pHI: 0.201
• hipred: Y
• hipred_score: 0.621
• ghis: 0.430

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.299

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Hspb6

Gene ontology

• Biological process: regulation of muscle contraction;negative regulation of cardiac muscle cell apoptotic process;positive regulation of angiogenesis;chaperone-mediated protein folding
• Cellular component: extracellular region;nucleus;cytoplasm
• Molecular function: structural constituent of eye lens;protein binding;protein homodimerization activity;unfolded protein binding;chaperone binding