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.

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.

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			35	2		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	2	0

Variants in RAB26

This is a list of pathogenic ClinVar variants found in the RAB26 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2148800-C-T		not specified	Uncertain significance (Dec 22, 2023)
16-2148823-A-C		not specified	Uncertain significance (Nov 08, 2022)
16-2148856-G-A		not specified	Uncertain significance (Nov 14, 2024)
16-2148865-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-2148958-T-C		not specified	Uncertain significance (Dec 08, 2023)
16-2148967-G-A		not specified	Uncertain significance (Oct 20, 2024)
16-2148973-T-C		not specified	Uncertain significance (Aug 02, 2021)
16-2148976-A-C		not specified	Uncertain significance (May 23, 2023)
16-2149948-T-C		not specified	Uncertain significance (Jun 28, 2023)
16-2149998-G-A		not specified	Uncertain significance (Oct 08, 2024)
16-2150034-G-A		not specified	Uncertain significance (Apr 25, 2022)
16-2150043-G-C		not specified	Uncertain significance (Jun 29, 2023)
16-2151575-G-T		not specified	Uncertain significance (Nov 24, 2024)
16-2151583-C-A		not specified	Uncertain significance (Jul 05, 2023)
16-2151593-G-A		not specified	Likely benign (Nov 25, 2024)
16-2151596-A-C		not specified	Uncertain significance (Mar 20, 2023)
16-2151702-A-G		not specified	Uncertain significance (Apr 20, 2023)
16-2151726-G-A		not specified	Uncertain significance (Feb 21, 2024)
16-2151873-G-A		not specified	Uncertain significance (May 06, 2024)
16-2151892-C-T		not specified	Uncertain significance (Oct 29, 2024)
16-2152855-C-A		not specified	Uncertain significance (Oct 16, 2023)
16-2152859-G-A		not specified	Uncertain significance (Sep 16, 2021)
16-2152860-T-C		not specified	Uncertain significance (Apr 20, 2024)
16-2152863-C-T		not specified	Likely benign (Oct 13, 2023)
16-2153020-G-A		not specified	Uncertain significance (Feb 06, 2023)

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

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