RAB8A
RAB8A, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases
Basic information
Region (hg38): 19:16111889-16134234
Previous symbols: [ "MEL" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 RAB8A 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 0 |
Variants in RAB8A
This is a list of pathogenic ClinVar variants found in the RAB8A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-16121788-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
| 19-16125500-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
| 19-16127464-A-G | not specified | Uncertain significance (Feb 11, 2025) | ||
| 19-16127513-A-C | not specified | Uncertain significance (Jan 05, 2022) | ||
| 19-16127515-C-T | not specified | Uncertain significance (Oct 12, 2024) | ||
| 19-16128055-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
| 19-16129561-T-C | not specified | Uncertain significance (Dec 28, 2023) | ||
| 19-16129587-A-C | not specified | Uncertain significance (Feb 15, 2023) | ||
| 19-16129603-T-C | not specified | Uncertain significance (Sep 22, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAB8A | protein_coding | protein_coding | ENST00000300935 | 8 | 22606 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.975 | 0.0245 | 125236 | 0 | 1 | 125237 | 0.00000399 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.12 | 57 | 123 | 0.462 | 0.00000714 | 1374 |
| Missense in Polyphen | 15 | 52.08 | 0.28802 | 551 | ||
| Synonymous | -0.815 | 56 | 48.8 | 1.15 | 0.00000325 | 366 |
| Loss of Function | 3.13 | 0 | 11.4 | 0.00 | 4.82e-7 | 142 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (PubMed:20890297). Together with MYO5B and RAB11A participates in epithelial cell polarization (PubMed:21282656). Plays an important role in ciliogenesis (PubMed:21844891). Together with MICALL2, may also regulate adherens junction assembly (By similarity). May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis (By similarity). Involved in autophagy (PubMed:27103069). {ECO:0000250|UniProtKB:P35280, ECO:0000250|UniProtKB:P55258, ECO:0000269|PubMed:20890297, ECO:0000269|PubMed:21282656, ECO:0000269|PubMed:21844891, ECO:0000269|PubMed:27103069}.;
- Pathway
- Endocytosis - Homo sapiens (human);Tight junction - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Vesicle-mediated transport;TBC/RABGAPs;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Regulation of PLK1 Activity at G2/M Transition;Rab regulation of trafficking;G2/M Transition;Mitotic G2-G2/M phases;RAB GEFs exchange GTP for GDP on RABs;Cell Cycle;RAB geranylgeranylation;Translocation of GLUT4 to the plasma membrane;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;VxPx cargo-targeting to cilium;Optineurin and Myosin Phosphatase Negatively Regulate PLK1;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.315
Intolerance Scores
- loftool
- 0.230
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.42
Haploinsufficiency Scores
- pHI
- 0.203
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.631
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.955
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Rab8a
- 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); digestive/alimentary phenotype; renal/urinary system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- rab8a
- Affected structure
- retinal rod cell
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- intracellular protein transport;vesicle docking involved in exocytosis;autophagy;axonogenesis;protein secretion;regulation of autophagy;regulation of exocytosis;Rab protein signal transduction;cellular response to insulin stimulus;post-translational protein modification;regulation of long-term neuronal synaptic plasticity;Golgi vesicle fusion to target membrane;regulation of protein transport;cilium assembly;protein localization to plasma membrane;neurotransmitter receptor transport, endosome to postsynaptic membrane;neurotransmitter receptor transport to postsynaptic membrane;vesicle-mediated transport in synapse
- Cellular component
- Golgi membrane;endosome;centrosome;centriole;cytosol;plasma membrane;cilium;synaptic vesicle;postsynaptic density;trans-Golgi network transport vesicle;midbody;phagocytic vesicle membrane;trans-Golgi network membrane;ciliary basal body;neuronal cell body;dendritic spine;phagocytic vesicle;recycling endosome membrane;extracellular exosome;ciliary base;non-motile cilium;glutamatergic synapse
- Molecular function
- GTPase activity;protein binding;GTP binding;Rab GTPase binding;GDP binding;protein kinase binding;myosin V binding