RAB44

protein-coding

RAB44, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Gene summary

Enables G protein activity. Involved in mast cell degranulation. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

RASD3
RASL13

MANE transcript

NM_001257357.2

Inheritance

—

ClinVar variants

U:7B:2

Top phenotype

Familial meningioma

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr6:36,697,826-36,733,184

External References & Databases

Ensembl (ENSG00000255587)

Transcript & Mutation Effects

hg38 • Region Span ~35.4 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 RAB44 variants in ClinVar

2 Conditions Cataloged

Familial meningiomaTotal: 3

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001257357.2. 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		2
missense			4 clinvar	1 clinvar		5
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	7	2	0	9

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001257357.2	RefSeq	NP_001244286.1	13	MANE Select
ENST00000612677.6	Ensembl	ENSP00000481054.1	13	MANE Select
ENST00000957683.1	Ensembl	ENSP00000627742.1	12	Standard
ENST00000957683.2	Ensembl	ENSP00000627742.1	12	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
Rab protein signal transduction
neutrophil degranulation

Molecular Function

GTPase activity
calcium ion binding
GTP binding

Cellular Component

plasma membrane
azurophil granule membrane
specific granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000229824
Coding exons: 11
Length: 16615
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	111	146	0.762	0.00000831	5801
Missense (PolyPhen)		38	56.227	0.67584		1569
Synonymous	1.33	47	60.2	0.781	0.00000358	1934
Loss of Function	1.50	6	11.5	0.523	5.73e-7	396

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
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	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0995

Essentials

Indispensability pred.: N
Indispensability score: 0.145