RAB4B

protein-coding

RAB4B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Enables G protein activity. Involved in D-glucose import across plasma membrane; early endosome to Golgi transport; and endosomal vesicle fusion. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. Is active in early endosome membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_016154.5

Inheritance

—

ClinVar variants

U:28

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr19:40,778,216-40,796,942

External References & Databases

Ensembl (ENSG00000167578)

Transcript & Mutation Effects

hg38 • Region Span ~18.7 kb

Loading mutation effect viewer...

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 RAB4B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 27

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016154.5. 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						0
missense			27 clinvar			27
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	0	0	28

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016154.5	RefSeq	NP_057238.3	7	MANE Select
ENST00000357052.8	Ensembl	ENSP00000349560.2	7	MANE Select
ENST00000378307.9	Ensembl	ENSP00000367557.4	5	Standard
ENST00000594800.5	Ensembl	ENSP00000470246.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Post-translational protein modification
Metabolism of proteins
Innate Immune System
Immune System

Biological Process

intracellular protein transport
regulation of endocytosis
Rab protein signal transduction
neutrophil degranulation
glucose import

Molecular Function

molecular_function
GTPase activity
protein binding
GTP binding

Cellular Component

endosome
plasma membrane
secretory granule membrane
insulin-responsive compartment
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000594800
Coding exons: 7
Length: 18727
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125748
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.924	111	142	0.782	0.00000975	1369
Missense (PolyPhen)		34	51.415	0.66128		493
Synonymous	0.872	51	59.6	0.856	0.00000413	437
Loss of Function	2.72	2	12.3	0.163	5.98e-7	140

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Protein transport. Probably involved in vesicular traffic (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.302
RVIS EVS: -0.54
RVIS percentile EVS: 20.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: E
Indispensability score: 0.837

Gene Damage Prediction

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