RAB21

RAB21, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 12:71754863-71800286

Links

ENSG00000080371 ∙ NCBI:23011 ∙ OMIM:612398 ∙ HGNC:18263 ∙ Uniprot:Q9UL25 ∙ 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 RAB21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB21 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	2
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	1

Variants in RAB21

This is a list of pathogenic ClinVar variants found in the RAB21 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-71755163-G-A		not specified	Uncertain significance (Dec 16, 2023)
12-71755163-G-C		not specified	Uncertain significance (Jan 19, 2025)
12-71755178-G-A		not specified	Uncertain significance (Nov 28, 2024)
12-71755228-G-C			Likely benign (Jul 16, 2018)
12-71773990-T-C		not specified	Uncertain significance (Apr 19, 2023)
12-71782039-A-T		not specified	Uncertain significance (Jul 19, 2023)
12-71782596-A-T		not specified	Uncertain significance (Sep 20, 2022)
12-71782599-A-G		not specified	Uncertain significance (Dec 19, 2022)
12-71785594-C-A		not specified	Uncertain significance (Dec 31, 2024)
12-71785631-T-C			Benign (Jul 16, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAB21	protein_coding	protein_coding	ENST00000261263	7	36046

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.111	0.883	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	72	109	0.662	0.00000529	1440
Missense in Polyphen		10	36.826	0.27154		476
Synonymous	1.11	30	38.8	0.773	0.00000197	420
Loss of Function	2.42	4	13.6	0.293	7.63e-7	169

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	0.0000467	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general. As a result, may regulate cell adhesion and migration (By similarity). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis. Involved in neurite growth (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q6AXT5, ECO:0000269|PubMed:18804435}.
• Pathway: Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.395
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.197
• hipred: Y
• hipred_score: 0.783
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.581

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rab21
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: intracellular protein transport;anterograde axonal transport;regulation of exocytosis;regulation of axon extension;Rab protein signal transduction;positive regulation of receptor-mediated endocytosis;positive regulation of dendrite morphogenesis;positive regulation of early endosome to late endosome transport
• Cellular component: endosome;early endosome;endoplasmic reticulum membrane;trans-Golgi network;cytosol;focal adhesion;cytoplasmic side of plasma membrane;vesicle membrane;cytoplasmic vesicle membrane;early endosome membrane;cleavage furrow;Golgi cisterna membrane;synapse;extracellular exosome;cytoplasmic side of early endosome membrane;axon cytoplasm
• Molecular function: GTPase activity;protein binding;GTP binding;GDP binding