RAB36

protein-coding

RAB36, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_004914.5

Inheritance

—

ClinVar variants

U:46B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr22:23,145,366-23,165,663

External References & Databases

Ensembl (ENSG00000100228)

Transcript & Mutation Effects

hg38 • Region Span ~20.3 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 RAB36 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 37

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004914.5. 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			2 clinvar			2
missense			39 clinvar	1 clinvar		40
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	46	1	0	47

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004914.5	RefSeq	NP_004905.3	10	MANE Select
ENST00000263116.8	Ensembl	ENSP00000263116.3	10	MANE Select
NM_001349877.1	RefSeq	NP_001336806.1	12	Standard
NM_001349878.1	RefSeq	NP_001336807.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Post-translational protein modification
Metabolism of proteins
Intra-Golgi traffic

Biological Process

intracellular protein transport
Rab protein signal transduction

Molecular Function

GTPase activity
GTP binding

Cellular Component

Golgi membrane
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263116
Coding exons: 11
Length: 19025
Individuals with no LoFs: 125635
Homozygous LoFs: 0
Heterozygous LoFs: 113
Defined: 125748
p: 0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.788	181	213	0.848	0.0000126	2139
Missense (PolyPhen)		72	80.679	0.89242		806
Synonymous	-0.836	103	92.8	1.11	0.00000625	663
Loss of Function	0.700	17	20.4	0.833	0.00000104	215

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00095	0.00092	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0015	0.0015	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00040	0.00039	rare
South Asian	0.00037	0.00036	rare
Other	0.00083	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.734
RVIS EVS: 0.62
RVIS percentile EVS: 83.42

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

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