RAB19

protein-coding

RAB19, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Predicted to enable GTPase activity. Predicted to be involved in autophagosome assembly and intracellular protein transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001008749.3

Inheritance

—

ClinVar variants

U:47

Top phenotype

Non-syndromic syndactyly

gnomAD constraint

pLI —, LoF o/e 1.24

Max pathogenic AF

—

Genomic locus

chr7:140,404,058-140,427,974

External References & Databases

Ensembl (ENSG00000146955)

Transcript & Mutation Effects

hg38 • Region Span ~23.9 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 RAB19 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

Non-syndromic syndactylyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008749.3. 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						0
missense			46 clinvar			46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	47	0	0	47

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008749.3	RefSeq	NP_001008749.2	3	MANE Select
ENST00000537763.6	Ensembl	ENSP00000440167.1	3	MANE Select
ENST00000356407.3	Ensembl	ENSP00000348778.3	3	Standard
ENST00000356407.4	Ensembl	ENSP00000348778.3	3	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

intracellular protein transport
endoplasmic reticulum to Golgi vesicle-mediated transport
Rab protein signal transduction

Molecular Function

GTPase activity
GTP binding

Cellular Component

Golgi membrane
endoplasmic reticulum membrane
plasma membrane
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000537763
Coding exons: 3
Length: 22208
Individuals with no LoFs: 125568
Homozygous LoFs: 0
Heterozygous LoFs: 180
Defined: 125748
p: 0.000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.376	126	138	0.910	0.00000890	1428
Missense (PolyPhen)		54	56.169	0.96139		568
Synonymous	-0.489	60	55.4	1.08	0.00000359	424
Loss of Function	-0.557	8	6.47	1.24	2.73e-7	81

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0082	0.0082	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000079	0.000079	rare
South Asian	0.000098	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.100

Intolerance Scores

LoFtool: 0.517
RVIS EVS: -0.34
RVIS percentile EVS: 30.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.273

Gene Damage Prediction

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