RAB29

protein-coding

RAB29, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Enables several functions, including G protein activity; dynein complex binding activity; and guanyl ribonucleotide binding activity. Involved in several processes, including positive regulation of T cell receptor signaling pathway; positive regulation of receptor recycling; and regulation of plasma membrane bounded cell projection organization. Located in several cellular components, including Golgi apparatus; endosome; and vacuole. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

RAB7L
RAB7L1

MANE transcript

NM_003929.3

Inheritance

—

ClinVar variants

U:30B:2

Top phenotype

RAB29-related disorder

gnomAD constraint

pLI —, LoF o/e 0.28

Max pathogenic AF

—

Genomic locus

chr1:205,767,986-205,775,482

External References & Databases

Ensembl (ENSG00000117280)

Transcript & Mutation Effects

hg38 • Region Span ~7.5 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 RAB29 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 30

RAB29-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003929.3. 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
missense			29 clinvar		1 clinvar	30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	30	1	1	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 75 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003929.3	RefSeq	NP_003920.1	5	MANE Select
ENST00000367139.8	Ensembl	ENSP00000356107.3	5	MANE Select
NM_001135662.2	RefSeq	NP_001129134.1	5	Standard
NM_001135663.2	RefSeq	NP_001129135.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Post-translational protein modification
Metabolism of proteins
RAB geranylgeranylation

Biological Process

positive regulation of receptor recycling
intracellular protein transport
endoplasmic reticulum to Golgi vesicle-mediated transport
mitochondrion organization
Golgi organization

Molecular Function

GTPase activity
protein binding
GTP binding
Rab GTPase binding
GDP binding

Cellular Component

cytoplasm
mitochondrion
early endosome
vacuole
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367139
Coding exons: 5
Length: 7475
Individuals with no LoFs: 125743
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125747
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.31	76	116	0.657	0.00000620	1343
Missense (PolyPhen)		26	45.808	0.56758		557
Synonymous	0.527	40	44.5	0.899	0.00000235	380
Loss of Function	2.20	3	10.8	0.278	5.61e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Rab GTPase key regulator in vesicle trafficking. Essential for maintaining the integrity of the endosome-trans- Golgi network structure. Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epithelial cell infection. {ECO:0000269|PubMed:22042847, ECO:0000269|PubMed:24788816}.;

Recessive Scores

pRec: 0.119

Intolerance Scores

RVIS EVS: 0.13
RVIS percentile EVS: 62.74

Essentials

Essential (gene trap): N