RINL

protein-coding

Ras and Rab interactor like, the group of VPS9 domain containing

Gene summary

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endocytosis. Predicted to be located in ruffle. Predicted to be active in cytosol and endocytic vesicle. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001195833.2

Inheritance

—

ClinVar variants

U:88B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr19:38,867,830-38,878,275

External References & Databases

Ensembl (ENSG00000187994)

Transcript & Mutation Effects

hg38 • Region Span ~10.4 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 RINL variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001195833.2. 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	2 clinvar		3
missense			83 clinvar	7 clinvar		90
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	88	9	0	97

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001195833.2	RefSeq	NP_001182762.1	11	MANE Select
ENST00000591812.2	Ensembl	ENSP00000467107.1	11	MANE Select
NM_198445.4	RefSeq	NP_940847.1	8	Standard
ENST00000593424.5	Ensembl	ENSP00000469510.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Rab regulation of trafficking
RAB GEFs exchange GTP for GDP on RABs

Biological Process

endocytosis
protein transport
positive regulation of GTPase activity

Molecular Function

guanyl-nucleotide exchange factor activity
GTPase activator activity

Cellular Component

ruffle
actin cytoskeleton
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000591812
Coding exons: 11
Length: 10450
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 26
Defined: 125741
p: 0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.23	251	312	0.804	0.0000170	3555
Missense (PolyPhen)		63	94.785	0.66466		1106
Synonymous	2.42	102	138	0.738	0.00000808	1231
Loss of Function	2.42	11	23.7	0.464	0.00000111	267

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00012	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000075	0.000070	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.727
RVIS EVS: 0.35
RVIS percentile EVS: 74.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.388

Gene Damage Prediction

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