RABL2B

protein-coding

RAB, member of RAS oncogene family like 2B, the group of RAB like GTPases

Gene summary

The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

MANE transcript

NM_001130919.3

Inheritance

—

ClinVar variants

U:36B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr22:50,767,501-50,783,667

External References & Databases

Ensembl (ENSG00000079974)

Transcript & Mutation Effects

hg38 • Region Span ~16.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RABL2B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 40

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001130919.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			36 clinvar			36
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	1	0	37

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 243 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001130919.3	RefSeq	NP_001124391.1	8	MANE Select
ENST00000691320.1	Ensembl	ENSP00000509250.1	8	MANE Select
NM_001003789.3	RefSeq	NP_001003789.1	8	Standard
NM_001130920.3	RefSeq	NP_001124392.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intracellular protein transport
Rab protein signal transduction
intraciliary transport
cilium assembly

Molecular Function

GTPase activity
protein binding
GTP binding

Cellular Component

pericentriolar material
cytoplasm
centriole
ciliary basal body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000395593
Coding exons: 8
Length: 16163
Individuals with no LoFs: 125699
Homozygous LoFs: 0
Heterozygous LoFs: 49
Defined: 125748
p: 0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0204	129	128	1.01	0.00000706	1596
Missense (PolyPhen)		32	35.707	0.89619		448
Synonymous	-0.0181	51	50.8	1.00	0.00000327	407
Loss of Function	0.340	10	11.2	0.890	5.14e-7	139

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.00049	0.00049	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00046	0.00046	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre- docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28625565, PubMed:28428259). {ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.829
RVIS EVS: 0.37
RVIS percentile EVS: 75.12

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.669

Gene Damage Prediction

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