RAB11FIP5

protein-coding

RAB11 family interacting protein 5, the group of C2 domain containing|RAB11 binding domain containing

Gene summary

Enables gamma-tubulin binding activity. Involved in cellular response to acidic pH; negative regulation of adiponectin secretion; and regulation of protein localization to cell surface. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001371272.1

Inheritance

—

ClinVar variants

U:119B:28

Top phenotype

RAB11FIP5-related disorder

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr2:73,073,382-73,156,721

External References & Databases

Ensembl (ENSG00000135631)

Transcript & Mutation Effects

hg38 • Region Span ~83.3 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 RAB11FIP5 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 120

not providedTotal: 16

RAB11FIP5-related disorderTotal: 13

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001371272.1. 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				12 clinvar	3 clinvar	15
missense			117 clinvar	10 clinvar	3 clinvar	130
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	119	22	6	147

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001371272.1	RefSeq	NP_001358201.1	6	MANE Select
ENST00000486777.7	Ensembl	ENSP00000489752.1	6	MANE Select
NM_015470.3	RefSeq	NP_056285.1	5	Standard
ENST00000258098.6	Ensembl	ENSP00000258098.6	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)

Biological Process

insulin secretion involved in cellular response to glucose stimulus
regulated exocytosis
negative regulation of adiponectin secretion
cellular response to acidic pH
regulation of protein localization to cell surface

Molecular Function

protein binding
Rab GTPase binding
gamma-tubulin binding

Cellular Component

Golgi membrane
mitochondrial outer membrane
early endosome
Golgi apparatus
microtubule organizing center

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258098
Coding exons: 5
Length: 83340
Individuals with no LoFs: 125730
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125747
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.702	349	388	0.900	0.0000233	4163
Missense (PolyPhen)		114	146.95	0.77575		1569
Synonymous	-0.262	169	165	1.03	0.00000966	1401
Loss of Function	2.40	8	19.4	0.412	0.00000100	231

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis. {ECO:0000269|PubMed:11163216, ECO:0000269|PubMed:20717956}.;

Recessive Scores

pRec: 0.233

Intolerance Scores

LoFtool: 0.661
RVIS EVS: -0.89
RVIS percentile EVS: 10.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.631

Gene Damage Prediction

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