RAB11FIP2

protein-coding

RAB11 family interacting protein 2, the group of C2 domain containing|RAB11 binding domain containing

Gene summary

Enables protein homodimerization activity and protein kinase binding activity. Involved in several processes, including TRAM-dependent toll-like receptor 4 signaling pathway; phagocytosis; and positive regulation of GTPase activity. Located in endosome and phagocytic cup. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014904.3

Inheritance

—

ClinVar variants

U:72B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr10:118,004,916-118,046,941

External References & Databases

Ensembl (ENSG00000107560)

Transcript & Mutation Effects

hg38 • Region Span ~42.0 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 RAB11FIP2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 70

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014904.3. 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			2 clinvar	2 clinvar		4
missense			67 clinvar	3 clinvar		70
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	5	0	77

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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_014904.3	RefSeq	NP_055719.1	5	MANE Select
ENST00000355624.8	Ensembl	ENSP00000347839.3	5	MANE Select
NM_001330167.2	RefSeq	NP_001317096.1	6	Standard
ENST00000369199.5	Ensembl	ENSP00000358200.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)

Biological Process

renal water homeostasis
establishment of cell polarity
insulin secretion involved in cellular response to glucose stimulus
regulated exocytosis
positive regulation of protein localization to plasma membrane

Molecular Function

protein binding
Rab GTPase binding
protein kinase binding
identical protein binding
protein homodimerization activity

Cellular Component

nucleoplasm
endosome
plasma membrane
cytoplasmic vesicle membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000355624
Coding exons: 5
Length: 41688
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 31
Defined: 125748
p: 0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.779	230	266	0.865	0.0000129	3432
Missense (PolyPhen)		92	133.12	0.69111		1727
Synonymous	-0.236	101	98.0	1.03	0.00000511	935
Loss of Function	3.49	2	17.9	0.111	9.36e-7	244

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00027	0.00027	rare
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.000089	0.000088	rare
South Asian	0.000098	0.000098	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity. {ECO:0000269|PubMed:12364336, ECO:0000269|PubMed:15304524, ECO:0000269|PubMed:16251358, ECO:0000269|PubMed:16775013, ECO:0000269|PubMed:19542231}.;

Recessive Scores

pRec: 0.132

Intolerance Scores

LoFtool: 0.623
RVIS EVS: 0.09
RVIS percentile EVS: 60.47

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.886

Gene Damage Prediction

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