RAB18

RAB18, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 10:27504174-27545117

Links

ENSG00000099246NCBI:22931OMIM:602207HGNC:14244Uniprot:Q9NP72AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Warburg micro syndrome 3 (Definitive), mode of inheritance: AR
  • Warburg micro syndrome 3 (Strong), mode of inheritance: AR
  • Warburg micro syndrome (Supportive), mode of inheritance: AR
  • Warburg micro syndrome (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Warburg micro syndrome 3ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Musculoskeletal; Neurologic; Ophthalmologic21473985

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB18 gene.

  • not_provided (43 variants)
  • Inborn_genetic_diseases (22 variants)
  • Warburg_micro_syndrome_3 (19 variants)
  • RAB18-related_disorder (8 variants)
  • not_specified (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021252.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
15
clinvar
16
missense
2
clinvar
1
clinvar
32
clinvar
2
clinvar
1
clinvar
38
nonsense
0
start loss
0
frameshift
1
clinvar
2
clinvar
1
clinvar
4
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 3 3 35 17 1

Highest pathogenic variant AF is 0.00000805922

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAB18protein_codingprotein_codingENST00000356940 737947
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9100.0898125697061257030.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.39681090.6250.000005111342
Missense in Polyphen2542.7090.58536539
Synonymous-0.2974239.61.060.00000198382
Loss of Function2.96112.20.08236.10e-7147

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001230.000123
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration. {ECO:0000269|PubMed:21473985}.;
Pathway
Neutrophil degranulation;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Rab regulation of trafficking;COPI-independent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.541
rvis_EVS
0.1
rvis_percentile_EVS
61.28

Haploinsufficiency Scores

pHI
0.192
hipred
Y
hipred_score
0.580
ghis
0.564

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.961

Mouse Genome Informatics

Gene name
Rab18
Phenotype
cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye 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); reproductive system phenotype;

Zebrafish Information Network

Gene name
rab18b
Affected structure
iridophore
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
eye development;intracellular protein transport;small GTPase mediated signal transduction;brain development;Rab protein signal transduction;lipid droplet organization;neutrophil degranulation;import into nucleus;endoplasmic reticulum tubular network organization
Cellular component
endoplasmic reticulum membrane;Golgi apparatus;cytosol;plasma membrane;secretory granule membrane;synapse;endoplasmic reticulum tubular network
Molecular function
GTPase activity;protein binding;GTP binding;GDP binding