RALGAPB

protein-coding

Ral GTPase activating protein non-catalytic subunit beta, the group of Armadillo like helical domain containing|MicroRNA protein coding host genes

Gene summary

Enables protein heterodimerization activity. Predicted to be involved in Ral protein signal transduction and activation of GTPase activity. Predicted to act upstream of or within regulation of exocyst localization and regulation of protein localization. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1219

MANE transcript

NM_020336.4

Inheritance

AD, AR

ClinVar variants

P:2U:154B:11

Top phenotype

neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.04

Max pathogenic AF

—

Genomic locus

chr20:38,472,816-38,578,859

External References & Databases

Ensembl (ENSG00000170471)

Transcript & Mutation Effects

hg38 • Region Span ~106.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

complex neurodevelopmental disorderLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0100038

Submitter: Ambry Genetics

neurodevelopmental disorderSTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RALGAPB variants in ClinVar

10 Conditions Cataloged

not specifiedTotal: 124

RALGAPB-related disorderTotal: 15

not providedTotal: 9

Neurodevelopmental disorderTotal: 2

Marfanoid habitus and intellectual disabilityTotal: 1

High myopiaTotal: 1

Septo-optic dysplasia sequenceTotal: 1

Intellectual disabilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020336.4. 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			1 clinvar		4 clinvar	5
missense		1 clinvar	143 clinvar	2 clinvar	5 clinvar	151
nonsense			3 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)	1 clinvar		6 clinvar			7
Total	1	1	154	2	9	167

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020336.4	RefSeq	NP_065069.1	29	MANE Select
ENST00000262879.11	Ensembl	ENSP00000262879.6	29	MANE Select
NM_001282917.2	RefSeq	NP_001269846.1	29	Standard
NM_001282918.2	RefSeq	NP_001269847.1	29	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Translocation of GLUT4 to the plasma membrane

Biological Process

regulation of small GTPase mediated signal transduction
activation of GTPase activity

Molecular Function

GTPase activator activity
protein heterodimerization activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262879
Coding exons: 29
Length: 106046
Individuals with no LoFs: 125743
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125748
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.18	561	816	0.687	0.0000428	9807
Missense (PolyPhen)		193	337.38	0.57205		4025
Synonymous	-0.312	292	285	1.02	0.0000145	2923
Loss of Function	7.58	3	72.8	0.0412	0.00000374	891

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB. {ECO:0000250}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.00193
RVIS EVS: -0.95
RVIS percentile EVS: 9.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): K
Indispensability pred.: N
Indispensability score: 0.341

Gene Damage Prediction

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