HSPA14
protein-codingheat shock protein family A (Hsp70) member 14, the group of Heat shock 70kDa proteins
Gene summary
Predicted to enable ATP hydrolysis activity; heat shock protein binding activity; and protein folding chaperone. Predicted to be involved in protein refolding. Located in cytosol and ribosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~33.4 kbGenCC 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 HSPA14 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016299.4. 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 | 1 | 2 | |||
| missense | 54 | 2 | 56 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 59 | 2 | 1 | 62 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057383.2 | 14 | MANE Select | |
| Ensembl | ENSP00000367623.3 | 14 | MANE Select | |
| Ensembl | ENSP00000404691.1 | 6 | Standard | |
| Ensembl | ENSP00000645986.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Parkin-Ubiquitin Proteasomal System pathway
- Regulation of HSF1-mediated heat shock response
- Cellular responses to stress
- Cellular responses to external stimuli
- Cellular response to heat stress
Biological Process
- cytoplasmic translation
- regulation of translational fidelity
- response to unfolded protein
- cellular response to heat
- cellular response to unfolded protein
Molecular Function
- protein binding
- ATP binding
- ATPase activity
- heat shock protein binding
- ATPase activity, coupled
Cellular Component
- cytoplasm
- cytosol
- ribosome
- polysome
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000378372
- Coding exons
- 14
- Length
- 33578
- Individuals with no LoFs
- 125733
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 15
- Defined
- 125748
- p
- 0.0000596
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.17 | 212 | 266 | 0.798 | 0.0000131 | 3270 |
| Missense (PolyPhen) | 79 | 122.85 | 0.64304 | 1438 | ||
| Synonymous | -0.492 | 105 | 98.8 | 1.06 | 0.00000527 | 1006 |
| Loss of Function | 4.05 | 6 | 29.9 | 0.200 | 0.00000174 | 360 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00018 | 0.00018 | rare |
| Latino/Admixed American | 0.00015 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000057 | 0.000054 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.000046 | 0.000044 | rare |
| South Asian | 0.000068 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity. {ECO:0000269|PubMed:16002468}.;
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- LoFtool
- 0.539
- RVIS EVS
- -0.45
- RVIS percentile EVS
- 24.19
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.653
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |