RAB11FIP2

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

Basic information

Region (hg38): 10:118004916-118046941

Links

ENSG00000107560 ∙ NCBI:22841 ∙ OMIM:608599 ∙ HGNC:29152 ∙ Uniprot:Q7L804 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB11FIP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB11FIP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in RAB11FIP2

This is a list of pathogenic ClinVar variants found in the RAB11FIP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-118009012-A-C		not specified	Uncertain significance (May 10, 2024)
10-118009098-T-C		not specified	Uncertain significance (Jan 06, 2023)
10-118009207-C-T		not specified	Uncertain significance (Jun 17, 2024)
10-118015094-T-C		not specified	Uncertain significance (Sep 22, 2023)
10-118015096-G-C		not specified	Uncertain significance (Jul 13, 2021)
10-118039018-G-A		not specified	Uncertain significance (Dec 02, 2021)
10-118039026-G-A		not specified	Uncertain significance (Mar 15, 2024)
10-118039033-A-G		not specified	Uncertain significance (Jan 23, 2023)
10-118039041-T-C		not specified	Uncertain significance (Feb 13, 2024)
10-118039079-C-T			Likely benign (May 01, 2023)
10-118039092-C-T		not specified	Uncertain significance (Feb 28, 2023)
10-118039175-C-A		not specified	Uncertain significance (Dec 16, 2023)
10-118039190-A-C		not specified	Uncertain significance (Apr 20, 2023)
10-118039236-C-A		not specified	Uncertain significance (Nov 08, 2022)
10-118039243-A-G		not specified	Uncertain significance (Aug 02, 2022)
10-118039251-C-T		not specified	Uncertain significance (Mar 21, 2022)
10-118039344-C-A		not specified	Uncertain significance (Sep 29, 2023)
10-118039344-C-T		not specified	Uncertain significance (Mar 25, 2024)
10-118039404-A-G		not specified	Uncertain significance (Jan 26, 2022)
10-118039423-G-A		not specified	Uncertain significance (Aug 10, 2023)
10-118040132-G-C		not specified	Uncertain significance (Aug 10, 2021)
10-118040204-C-G		not specified	Uncertain significance (Aug 15, 2023)
10-118040215-T-C		not specified	Uncertain significance (Feb 11, 2022)
10-118040329-T-C		not specified	Likely benign (May 09, 2023)
10-118040425-G-C		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB11FIP2	protein_coding	protein_coding	ENST00000355624	5	41688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.945	0.0555	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.779	230	266	0.865	0.0000129	3432
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000241	0.000241
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000275	0.000272
Finnish	0.000191	0.000185
European (Non-Finnish)	0.0000887	0.0000879
Middle Eastern	0.000275	0.000272
South Asian	0.0000980	0.0000980
Other	0.000334	0.000326

dbNSFP

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}.
• Pathway: Endocytosis - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.623
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.47

Haploinsufficiency Scores

• pHI: 0.323
• hipred: Y
• hipred_score: 0.547
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.886

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab11fip2

Gene ontology

• 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
• Cellular component: nucleoplasm;endosome;plasma membrane;cytoplasmic vesicle membrane;intracellular membrane-bounded organelle;recycling endosome membrane
• Molecular function: protein binding;Rab GTPase binding;protein kinase binding;identical protein binding;protein homodimerization activity