RAB26

RAB26, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 16:2140803-2154165

Links

ENSG00000167964

∙ NCBI:25837 ∙ OMIM:605455 ∙ HGNC:14259 ∙ Uniprot:Q9ULW5 ∙ 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 RAB26 gene.

not_specified (62 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014353.5. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			60 clinvar	2 clinvar		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB26	protein_coding	protein_coding	ENST00000210187	9	13363

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.70e-8	0.129	125638	0	34	125672	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.810	156	130	1.20	0.00000733	1616
Missense in Polyphen		62	59.652	1.0394		663
Synonymous	-1.81	73	55.8	1.31	0.00000357	532
Loss of Function	0.0293	12	12.1	0.991	5.49e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000309	0.000305
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000815	0.0000792
Middle Eastern	0.000544	0.000544
South Asian	0.000235	0.000229
Other	0.000164	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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a role in the secretion of amylase from acinar granules in the parotid gland. {ECO:0000269|PubMed:20038531, ECO:0000269|PubMed:23105096}.;
Pathway: Post-translational protein modification;Metabolism of proteins;RAB geranylgeranylation (Consensus)

Recessive Scores

pRec: 0.110

Intolerance Scores

loftool: 0.589
rvis_EVS: -0.27
rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

pHI: 0.238
hipred: N
hipred_score: 0.251
ghis: 0.605

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.943

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rab26
Phenotype

Gene ontology

Biological process: intracellular protein transport;regulation of exocytosis;Rab protein signal transduction;exocrine system development;Golgi to plasma membrane protein transport;regulated exocytosis;regulation of protein catabolic process at presynapse, modulating synaptic transmission
Cellular component: Golgi membrane;secretory granule membrane;intrinsic component of plasma membrane;anchored component of synaptic vesicle membrane
Molecular function: GTPase activity;protein binding;GTP binding;GMP binding