RAB17

RAB17, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 2:237574322-237601614

Links

ENSG00000124839

∙ NCBI:64284 ∙ OMIM:602206 ∙ HGNC:16523 ∙ Uniprot:Q9H0T7 ∙ 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 RAB17 gene.

not_specified (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022449.4. 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						0
missense			32 clinvar	2 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB17	protein_coding	protein_coding	ENST00000264601	5	27293

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0746	0.878	125729	0	10	125739	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0699	124	126	0.982	0.00000750	1375
Missense in Polyphen		48	47.931	1.0014		544
Synonymous	0.205	54	56.0	0.965	0.00000374	421
Loss of Function	1.68	3	8.19	0.366	3.48e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000183
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000271	0.0000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000669	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in epithelial cells, transcytosis mediates for instance, the transcellular transport of immunoglobulins from the basolateral surface to the apical surface. Most probably controls membrane trafficking through apical recycling endosomes in a post- endocytic step of transcytosis. Required for melanosome transport and release from melanocytes, it also regulates dendrite and dendritic spine development (By similarity). May also play a role in cell migration. {ECO:0000250, ECO:0000269|PubMed:22328529}.;
Pathway: Post-translational protein modification;Metabolism of proteins;RAB geranylgeranylation (Consensus)

Recessive Scores

pRec: 0.116

Intolerance Scores

loftool: 0.507
rvis_EVS: 0.49
rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

pHI: 0.0775
hipred: N
hipred_score: 0.256
ghis: 0.419

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.912

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rab17
Phenotype: immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor;intracellular protein transport;regulation of endocytosis;establishment of melanosome localization;melanosome transport;endocytic recycling;Rab protein signal transduction;transcytosis;filopodium assembly;regulation of dendrite development;regulation of filopodium assembly;regulation of synapse assembly;cilium assembly
Cellular component: endosome;early endosome;plasma membrane;basolateral plasma membrane;apical plasma membrane;endocytic vesicle;dendrite;melanosome;neuronal cell body;recycling endosome;recycling endosome membrane;extracellular exosome
Molecular function: GTPase activity;protein binding;GTP binding;GDP binding