RERG

protein-coding

RAS like estrogen regulated growth inhibitor, the group of RAS type GTPase family

Gene summary

RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]

MANE transcript

NM_032918.3

Inheritance

—

ClinVar variants

U:27B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr12:15,107,783-15,348,675

External References & Databases

Ensembl (ENSG00000134533)

Transcript & Mutation Effects

hg38 • Region Span ~240.9 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 RERG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 23

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032918.3. 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			1 clinvar		2 clinvar	3
missense			26 clinvar			26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	27	0	2	29

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032918.3	RefSeq	NP_116307.1	4	MANE Select
ENST00000256953.6	Ensembl	ENSP00000256953.2	4	MANE Select
NM_001190726.2	RefSeq	NP_001177655.1	3	Standard
ENST00000393736.3	Ensembl	ENSP00000440887.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

small GTPase mediated signal transduction
negative regulation of cell population proliferation
response to hormone
negative regulation of cell growth

Molecular Function

GTPase activity
GTP binding
GDP binding
estrogen receptor binding

Cellular Component

nucleus
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256953
Coding exons: 4
Length: 240893
Individuals with no LoFs: 125732
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125748
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.347	108	119	0.910	0.00000687	1294
Missense (PolyPhen)		25	30.037	0.83231		367
Synonymous	1.13	33	42.3	0.780	0.00000240	387
Loss of Function	0.858	9	12.2	0.735	9.16e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000035	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential. {ECO:0000269|PubMed:11533059}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.876
RVIS EVS: -0.27
RVIS percentile EVS: 33.97

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.377

Gene Damage Prediction

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