ARHGAP45
protein-codingRho GTPase activating protein 45, the group of AH/BAR family Rho GTPase activating proteins|F-BAR domain containing |Minor histocompatibility antigens
Gene summary
Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of small GTPase mediated signal transduction. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- HMHA1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~20.7 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 ARHGAP45 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_012292.5. 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 | 3 | 6 | 3 | 12 | ||
| missense | 15 | 3 | 2 | 20 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 21 | 9 | 5 | 35 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_036424.2 | 23 | MANE Select | |
| Ensembl | ENSP00000316772.2 | 23 | MANE Select | |
| RefSeq | NP_001245257.1 | 23 | Standard | |
| RefSeq | NP_001269263.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Neutrophil degranulation
- Signal Transduction
- Innate Immune System
- Immune System
- Rho GTPase cycle
Biological Process
- intracellular signal transduction
- neutrophil degranulation
- positive regulation of GTPase activity
- regulation of small GTPase mediated signal transduction
Molecular Function
- GTPase activator activity
- protein binding
- metal ion binding
Cellular Component
- extracellular region
- cytosol
- membrane
- ruffle membrane
- secretory granule lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000539243
- Coding exons
- 23
- Length
- 20706
- Individuals with no LoFs
- 125693
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 45
- Defined
- 125738
- p
- 0.000179
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.07 | 605 | 766 | 0.790 | 0.0000551 | 7312 |
| Missense (PolyPhen) | 90 | 183.55 | 0.49033 | 1825 | ||
| Synonymous | -1.34 | 390 | 358 | 1.09 | 0.0000291 | 2331 |
| Loss of Function | 5.07 | 12 | 51.1 | 0.235 | 0.00000246 | 583 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000031 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0014 | 0.0014 | notable |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity. {ECO:0000269|PubMed:24086303}.;
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- RVIS EVS
- 0.01
- RVIS percentile EVS
- 54.18
Essentials
- Essential (gene trap)
- N