HEATR5B
protein-codingHEAT repeat containing 5B, the group of Armadillo like helical domain containing
Gene summary
Predicted to be involved in endocytosis; intracellular protein localization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [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 ~116.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0020135
Submitter: PanelApp Australia
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to HEATR5B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_019024.3. 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 | 3 | 4 | 7 | |||
| missense | 250 | 3 | 253 | |||
| nonsense | 1 | 5 | 6 | |||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 2 | 3 | |||
| Total | 0 | 2 | 261 | 7 | 0 | 270 |
Highest pathogenic variant AF is 0.000003099418
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061897.1 | 35 | MANE Select | |
| Ensembl | ENSP00000233099.5 | 35 | MANE Select | |
| Ensembl | ENSP00000408222.1 | 2 | Standard | |
| Ensembl | ENSP00000574036.1 | 35 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- endocytosis
- protein localization
- retrograde transport, endosome to Golgi
Molecular Function
- protein binding
Cellular Component
- cytosol
- membrane
- endocytic vesicle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000233099
- Coding exons
- 35
- Length
- 115960
- Individuals with no LoFs
- 125573
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 175
- Defined
- 125748
- p
- 0.000696
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.14 | 933 | 1.14e+3 | 0.821 | 0.0000616 | 13351 |
| Missense (PolyPhen) | 147 | 275.37 | 0.53383 | 3275 | ||
| Synonymous | -2.93 | 477 | 402 | 1.19 | 0.0000216 | 4290 |
| Loss of Function | 4.76 | 54 | 107 | 0.504 | 0.00000684 | 1184 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00037 | 0.00037 | rare |
| Latino/Admixed American | 0.00041 | 0.00040 | rare |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0.00055 | 0.00054 | rare |
| Finnish | 0.0034 | 0.0034 | notable |
| European (Non-Finnish) | 0.00052 | 0.00050 | rare |
| South Asian | 0.00030 | 0.00029 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.834
- RVIS EVS
- -2.51
- RVIS percentile EVS
- 0.91
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.600
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |