HSPB7

protein-coding

heat shock protein family B (small) member 7, the group of Small heat shock proteins

Gene summary

This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]

MANE transcript

NM_014424.5

Inheritance

—

ClinVar variants

U:39B:4

Top phenotype

Oromandibular-limb hypogenesis spectrum

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr1:16,014,028-16,019,594

External References & Databases

Ensembl (ENSG00000173641)

Transcript & Mutation Effects

hg38 • Region Span ~5.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HSPB7 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 39

not providedTotal: 3

Oromandibular-limb hypogenesis spectrumTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014424.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			39 clinvar	1 clinvar	2 clinvar	42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	1	3	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014424.5	RefSeq	NP_055239.1	3	MANE Select
ENST00000311890.14	Ensembl	ENSP00000310111.9	3	MANE Select
NM_001349682.2	RefSeq	NP_001336611.1	4	Standard
NM_001349683.2	RefSeq	NP_001336612.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
hspb7	Danio rerio	Structure: whole organism Quality: curved ventral abnormal

Gene / Model

Organism

Observed Phenotype

hspb7

Danio rerio

Structure: whole organism

Quality: curved ventral

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Differentiation of white and brown adipocyte

Biological Process

response to unfolded protein
heart development
regulation of heart contraction

Molecular Function

protein binding
protein C-terminus binding
filamin binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
Cajal body
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311890
Coding exons: 3
Length: 5567
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125735
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.428	108	121	0.891	0.00000836	1095
Missense (PolyPhen)		26	30.129	0.86295		274
Synonymous	-1.12	65	54.5	1.19	0.00000417	363
Loss of Function	0.708	3	4.65	0.646	2.82e-7	50

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.150

Intolerance Scores

LoFtool: 0.168
RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.700

Gene Damage Prediction

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