RAB32
RAB32, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases|A-kinase anchoring proteins
Basic information
Region (hg38): 6:146543833-146554953
Links
Phenotypes
GenCC
Source:
- Parkinson disease 26, autosomal dominant, susceptibility to (Moderate), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Parkinson disease 26, autosomal dominant, susceptibility to | AD | Neurologic | Levodopa can be beneficial in individuals with Parkinson disease | Neurologic | 38614108; 38858457 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB32 gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 18 | 18 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 18 | 0 | 0 |
Variants in RAB32
This is a list of pathogenic ClinVar variants found in the RAB32 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-146543944-C-T | not specified | Uncertain significance (May 05, 2022) | ||
| 6-146543965-G-C | not specified | Uncertain significance (Apr 28, 2023) | ||
| 6-146544074-A-C | not specified | Uncertain significance (Jun 18, 2021) | ||
| 6-146544086-G-A | not specified | Uncertain significance (May 27, 2022) | ||
| 6-146544098-G-A | not specified | Uncertain significance (Feb 06, 2024) | ||
| 6-146549502-A-G | not specified | Uncertain significance (Sep 27, 2024) | ||
| 6-146549503-A-T | not specified | Uncertain significance (Oct 07, 2024) | ||
| 6-146549533-A-G | not specified | Uncertain significance (Aug 08, 2022) | ||
| 6-146549558-G-C | not specified | Uncertain significance (Aug 05, 2024) | ||
| 6-146549586-G-T | not specified | Uncertain significance (Jan 10, 2023) | ||
| 6-146549631-C-A | not specified | Uncertain significance (Nov 03, 2023) | ||
| 6-146549654-G-C | not specified | Uncertain significance (Feb 10, 2022) | ||
| 6-146549706-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
| 6-146549725-T-G | not specified | Uncertain significance (Apr 22, 2022) | ||
| 6-146554459-A-T | not specified | Uncertain significance (Jan 06, 2023) | ||
| 6-146554469-T-C | not specified | Uncertain significance (Mar 20, 2024) | ||
| 6-146554540-G-A | not specified | Uncertain significance (Feb 27, 2024) | ||
| 6-146554589-A-G | not specified | Uncertain significance (Jun 13, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAB32 | protein_coding | protein_coding | ENST00000367495 | 3 | 11273 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000651 | 0.753 | 125722 | 0 | 26 | 125748 | 0.000103 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.256 | 132 | 124 | 1.06 | 0.00000578 | 1485 |
| Missense in Polyphen | 35 | 37.023 | 0.94535 | 437 | ||
| Synonymous | -0.600 | 56 | 50.6 | 1.11 | 0.00000241 | 435 |
| Loss of Function | 0.964 | 6 | 9.15 | 0.656 | 5.60e-7 | 86 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000357 | 0.000355 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.0000626 | 0.0000615 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.0000982 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). {ECO:0000250|UniProtKB:Q9CZE3, ECO:0000269|PubMed:12186851, ECO:0000269|PubMed:21255211, ECO:0000269|PubMed:23084991}.;
- Pathway
- Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation
(Consensus)
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- 0.555
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.0978
- hipred
- Y
- hipred_score
- 0.558
- ghis
- 0.584
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.557
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rab32
- Phenotype
- reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- intracellular protein transport;mitochondrion organization;vesicle-mediated transport;antigen processing and presentation;Rab protein signal transduction;endosome to melanosome transport;protein localization to membrane;phagosome maturation;melanosome assembly
- Cellular component
- mitochondrion;mitochondrial outer membrane;early endosome;endoplasmic reticulum;trans-Golgi network;cytosol;membrane;phagocytic vesicle membrane;early endosome lumen;melanosome membrane;melanosome;mitochondria-associated endoplasmic reticulum membrane;phagocytic vesicle
- Molecular function
- GTPase activity;protein binding;GTP binding;GTP-dependent protein binding;AP-2 adaptor complex binding;AP-1 adaptor complex binding;AP-3 adaptor complex binding;BLOC-2 complex binding