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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RALGAPB
Ral GTPase activating protein non-catalytic subunit beta
Chromosome 20 Β· 20q11.23
NCBI Gene: 57148Ensembl: ENSG00000170471.16HGNC: HGNC:29221UniProt: Q86X10
48PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein heterodimerization activityprotein bindingRal protein signal transductionGTPase activator activityneurodegenerative diseaseIntellectual disabilityseptooptic dysplasiaSepto-optic dysplasia
✦AI Summary

RALGAPB encodes the non-catalytic beta subunit of RalGAP complexes, which function as GTPase-activating proteins for Ral small GTPases (RALA and RALB) 1. As a scaffolding component, RALGAPB is essential for complex assembly and stability; loss of RalGAPB protein levels occurs when its catalytic partner RalGAPA1 is deficient, indicating interdependence of complex subunits 1. The RalGAP tetrameric architecture, stabilized by RALGAPB's unique domains, is required for in vivo function and acts as a tumor suppressor by negating oncogenic Ras signaling 2. Clinically, RALGAPB mutations are associated with neurodevelopmental disorders, particularly autism spectrum disorder and developmental delay. A genome-wide significant excess of de novo loss-of-function variants in RALGAPB has been identified in ASD and related conditions 3. RALGAPB disruption has also been implicated in infantile spasms and macrocephaly 45. Dysregulation of RalA signaling through RALGAPB deficiency affects neuronal function and brain development, potentially through alterations in cell-surface lipid raft components and anchorage-dependent cell signaling 1. Additionally, microexons within RALGAPB are required for correct timing of autism-linked gene expression during neurogenesis 6. RALGAPB represents an emerging component of the RALopathy disease spectrum, warranting consideration in clinical genetic diagnosis of neurodevelopmental disorders.

Sources cited
1
RALGAPB is a non-catalytic scaffolding subunit of RalGAP complexes and its loss leads to RalA pathway dysregulation affecting neuronal function and brain development
PMID: 32004447
2
RalGAP tetrameric architecture stabilized by RALGAPB is essential for in vivo function and acts as tumor suppressor complex
PMID: 40738882
3
Genome-wide significant excess of RALGAPB de novo loss-of-function variants in autism spectrum disorder and neurodevelopmental disorders
PMID: 32853829
4
RALGAPB variants identified as suggestive candidates in infantile spasms cohort requiring further confirmation
PMID: 35830182
5
RALGAPB identified as candidate gene for macrocephaly based on functional roles in brain development
PMID: 36553552
6
Microexons in RALGAPB are required for correct timing of autism-linked gene expression during neurogenesis
PMID: 41633977
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.52Moderate
Intellectual disabilityOpen Targets
0.34Weak
Septo-optic dysplasiaOpen Targets
0.27Weak
septooptic dysplasiaOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.20Weak
fibula fractureOpen Targets
0.20Weak
tibia fractureOpen Targets
0.19Weak
jaw diseaseOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.17Weak
ovarian dysfunctionOpen Targets
0.13Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
nephrotic syndromeOpen Targets
0.06Suggestive
paraneoplastic pemphigusOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.04Suggestive
Pathogenic Variants2
NM_020336.4(RALGAPB):c.4142+1G>APathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2022
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)Likely pathogenic
Septo-optic dysplasia sequence
β˜…β˜†β˜†β˜†2016β†’ Residue 775
View on ClinVar β†—
Related Genes
RALAProtein interaction89%RALGAPA2Protein interaction77%RALGAPA1Protein interaction77%AKT2Protein interaction75%RNF111Protein interaction74%DIP2BProtein interaction72%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
73%
Heart
70%
Lung
66%
Ovary
63%
Liver
42%
Gene Interaction Network
Click a node to explore
RALGAPBRALARALGAPA2RALGAPA1AKT2RNF111DIP2B
PROTEIN STRUCTURE
Preparing viewer…
PDB9QWP Β· 3.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.10–0.20]
RankingsWhere RALGAPB stands among ~20K protein-coding genes
  • #9,116of 20,598
    Most Researched48
  • #4,443of 5,498
    Most Pathogenic Variants2
  • #461of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedRALGAPB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
PMID: 30564305
Mol Autism Β· 2018
1.00
2
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
PMID: 32004447
Am J Hum Genet Β· 2020
0.90
3
Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.
PMID: 36553552
Genes (Basel) Β· 2022
0.80
4
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
PMID: 35830182
Dev Med Child Neurol Β· 2022
0.70
5
An Improved Deep Semi-supervised JNMF Method for Biomarker Extraction of Alzheimer's Disease.
PMID: 41343129
J Mol Neurosci Β· 2025
0.60