RERGL

protein-coding

RERG like, the group of RAS type GTPase family

Gene summary

Predicted to enable G protein activity and GTP binding activity. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001286201.2

Inheritance

—

ClinVar variants

U:33B:2

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 1.11

Max pathogenic AF

—

Genomic locus

chr12:18,080,869-18,320,107

External References & Databases

Ensembl (ENSG00000111404)

Transcript & Mutation Effects

hg38 • Region Span ~239.2 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 RERGL variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 1

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001286201.2. 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				1 clinvar		1
missense			33 clinvar			33
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	1	1	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001286201.2	RefSeq	NP_001273130.1	5	MANE Select
ENST00000538724.6	Ensembl	ENSP00000437814.1	5	MANE Select
NM_024730.4	RefSeq	NP_079006.1	5	Standard
ENST00000229002.6	Ensembl	ENSP00000229002.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

signal transduction

Molecular Function

GTPase activity
GTP binding

Cellular Component

membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000229002
Coding exons: 5
Length: 239239
Individuals with no LoFs: 125142
Homozygous LoFs: 2
Heterozygous LoFs: 602
Defined: 125746
p: 0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.250	110	103	1.07	0.00000499	1340
Missense (PolyPhen)		40	33.493	1.1943		391
Synonymous	0.217	35	36.7	0.954	0.00000166	380
Loss of Function	-0.348	14	12.7	1.11	8.89e-7	131

Population LoF Frequency

Population	CAF	p-value	Status
African	0.012	0.012	notable
Latino/Admixed American	0.0010	0.00095	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00027	0.00027	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0026	0.0025	notable
South Asian	0.0025	0.0024	notable
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds GDP/GTP and may possess intrinsic GTPase activity. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.733
RVIS EVS: 0.28
RVIS percentile EVS: 71.41

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.307

Gene Damage Prediction

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