RASA4B

protein-coding

RAS p21 protein activator 4B, the group of Pleckstrin homology domain containing|C2 and RasGAP domain containing

Gene summary

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of intracellular signal transduction. Predicted to be located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001367767.2

Inheritance

—

ClinVar variants

B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr7:102,479,976-102,517,777

External References & Databases

Ensembl (ENSG00000170667)

NCBI Gene (100271927)

Transcript & Mutation Effects

hg38 • Region Span ~37.8 kb

Loading mutation effect viewer...

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 RASA4B variants in ClinVar

1 Conditions Cataloged

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367767.2. 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				3 clinvar		3
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	3	0	3

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367767.2	RefSeq	NP_001354696.1	21	MANE Select
ENST00000465829.6	Ensembl	ENSP00000417895.1	21	MANE Select
NM_001277335.2	RefSeq	NP_001264264.1	20	Standard
ENST00000306682.6	Ensembl	ENSP00000303968.6	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ras signaling pathway - Homo sapiens (human)
Ras Signaling

Biological Process

intracellular signal transduction
positive regulation of GTPase activity
negative regulation of Ras protein signal transduction
cellular response to calcium ion

Molecular Function

GTPase activator activity
phospholipid binding
metal ion binding

Cellular Component

cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000541662
Coding exons: 20
Length: 35337
Individuals with no LoFs: 106747
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 106750
p: 0.0000141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	29	49.1	0.591	0.00000265	4790
Missense (PolyPhen)		10	21.381	0.4677		1898
Synonymous	2.55	7	22.3	0.313	0.00000120	1511
Loss of Function	0.894	3	5.20	0.577	2.21e-7	431

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000078	0.000078	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000074	0.000074	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Ca(2+)-dependent Ras GTPase-activating protein, that may play a role in the Ras-MAPK pathway. {ECO:0000250|UniProtKB:O43374}.;

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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