RAB11FIP3

RAB11 family interacting protein 3, the group of EF-hand domain containing|RAB11 binding domain containing

Basic information

Region (hg38): 16:425649-523011

Links

ENSG00000090565

∙ NCBI:9727 ∙ OMIM:608738 ∙ HGNC:17224 ∙ Uniprot:O75154 ∙ 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 RAB11FIP3 gene.

not_specified (118 variants)
not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB11FIP3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014700.4. 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				6 clinvar	3 clinvar	9
missense			114 clinvar	3 clinvar	1 clinvar	118
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	114	9	4

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB11FIP3	protein_coding	protein_coding	ENST00000262305	14	97393

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00180	125745	0	3	125748	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	321	392	0.820	0.0000237	4864
Missense in Polyphen		50	95.944	0.52114		1022
Synonymous	1.54	152	178	0.853	0.0000124	1512
Loss of Function	4.72	3	31.7	0.0947	0.00000145	376

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (PubMed:25035494). {ECO:0000269|PubMed:15601896, ECO:0000269|PubMed:17394487, ECO:0000269|PubMed:19327867, ECO:0000269|PubMed:25035494}.;
Pathway: Endocytosis - Homo sapiens (human);VxPx cargo-targeting to cilium;Arf6 downstream pathway;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

pRec: 0.109

Haploinsufficiency Scores

pHI: 0.157
hipred: Y
hipred_score: 0.746
ghis: 0.567

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.514

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rab11fip3
Phenotype

Gene ontology

Biological process: cell cycle;vesicle-mediated transport;endocytic recycling;regulation of cytokinesis;cell division;protein localization to cilium;negative regulation of adiponectin secretion
Cellular component: nucleoplasm;endosome;centrosome;microtubule organizing center;cytosol;endocytic vesicle;midbody;cleavage furrow;intracellular membrane-bounded organelle;intercellular bridge;recycling endosome;recycling endosome membrane
Molecular function: calcium ion binding;protein binding;Rab GTPase binding;ADP-ribosylation factor binding;protein homodimerization activity;dynein light intermediate chain binding