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.

not_specified (63 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000014904.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			60 clinvar	2 clinvar		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	4	0

Loading clinvar variants...

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
Phenotype

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