RAB8B

RAB8B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 15:63189560-63267776

Links

ENSG00000166128

∙ NCBI:51762 ∙ OMIM:613532 ∙ HGNC:30273 ∙ Uniprot:Q92930 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB8B 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					1 clinvar	1
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	1

Variants in RAB8B

This is a list of pathogenic ClinVar variants found in the RAB8B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
15-63244814-A-G	not specified	Uncertain significance (Sep 22, 2022)	2313124
15-63255553-A-G	not specified	Uncertain significance (Jul 20, 2022)	2341711
15-63259633-A-G	not specified	Uncertain significance (Feb 28, 2024)	3150840
15-63263560-G-A	not specified	Uncertain significance (Jan 30, 2024)	3150841
15-63263577-C-A	not specified	Uncertain significance (May 21, 2024)	3312207
15-63263594-G-T	not specified	Uncertain significance (Jun 29, 2023)	2608360
15-63263603-G-A	not specified	Uncertain significance (Jan 16, 2024)	3150842
15-63263610-G-A		Benign (Aug 03, 2017)	787429

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB8B	protein_coding	protein_coding	ENST00000321437	8	78314

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000695	0.924	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.98	53	112	0.473	0.00000571	1369
Missense in Polyphen		18	50.414	0.35704		583
Synonymous	0.214	40	41.8	0.958	0.00000234	374
Loss of Function	1.58	7	13.2	0.531	7.14e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000624	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000268	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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 may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity). {ECO:0000250}.;
Pathway: Tight junction - Homo sapiens (human);Ectoderm Differentiation;Vesicle-mediated transport;TBC/RABGAPs;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: 0.136

Intolerance Scores

loftool: 0.556
rvis_EVS: -0.05
rvis_percentile_EVS: 49.39

Haploinsufficiency Scores

pHI: 0.0966
hipred: Y
hipred_score: 0.800
ghis: 0.679

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.809

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Rab8b
Phenotype: normal 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;

Gene ontology

Biological process: intracellular protein transport;vesicle docking involved in exocytosis;protein secretion;regulation of exocytosis;antigen processing and presentation;positive regulation of cell projection organization;Rab protein signal transduction;cellular response to insulin stimulus;adherens junction organization;protein import into peroxisome membrane;Golgi vesicle fusion to target membrane;positive regulation of corticotropin secretion;cilium assembly;protein localization to plasma membrane
Cellular component: nucleoplasm;endosome;peroxisomal membrane;plasma membrane;synaptic vesicle;nuclear body;trans-Golgi network transport vesicle;phagocytic vesicle membrane;intracellular membrane-bounded organelle;phagocytic vesicle;perinuclear region of cytoplasm;cell tip;recycling endosome membrane;extracellular exosome
Molecular function: GTPase activity;signaling receptor binding;protein binding;GTP binding;GDP binding;TPR domain binding