RAB6B

protein-coding

RAB6B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Enables G protein activity and myosin V binding activity. Involved in Golgi organization and protein localization to Golgi membrane. Located in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_016577.4

Inheritance

—

ClinVar variants

U:20B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.07

Max pathogenic AF

—

Genomic locus

chr3:133,824,235-133,895,882

External References & Databases

Ensembl (ENSG00000154917)

Transcript & Mutation Effects

hg38 • Region Span ~71.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RAB6B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 17

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016577.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar	1 clinvar	3
missense			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	20	1	1	22

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016577.4	RefSeq	NP_057661.3	8	MANE Select
ENST00000285208.9	Ensembl	ENSP00000285208.4	8	MANE Select
NM_001363953.1	RefSeq	NP_001350882.1	8	Standard
ENST00000460865.3	Ensembl	ENSP00000419526.3	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
TBC/RABGAPs
Membrane Trafficking
Post-translational protein modification
Metabolism of proteins

Biological Process

intracellular protein transport
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
intra-Golgi vesicle-mediated transport
Rab protein signal transduction
retrograde transport, endosome to Golgi

Molecular Function

GTPase activity
protein binding
GTP binding
myosin V binding

Cellular Component

Golgi membrane
endoplasmic reticulum-Golgi intermediate compartment
Golgi apparatus
cytosol
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000285208
Coding exons: 8
Length: 71598
Individuals with no LoFs: 125744
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125747
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.49	55	137	0.401	0.00000884	1381
Missense (PolyPhen)		6	41.13	0.14588		427
Synonymous	-0.209	57	55.0	1.04	0.00000414	378
Loss of Function	3.27	1	14.4	0.0696	7.63e-7	149

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells. {ECO:0000269|PubMed:17707369}.;

Recessive Scores

pRec: 0.142

Intolerance Scores

LoFtool: 0.0794
RVIS EVS: 0.01
RVIS percentile EVS: 54.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.769

Gene Damage Prediction

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