REM1

protein-coding

RRAD and GEM like GTPase 1, the group of RGK type GTPase family

Gene summary

The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]

Previous symbols:

MANE transcript

NM_014012.6

Inheritance

—

ClinVar variants

U:54B:3

Top phenotype

Long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.89

Max pathogenic AF

—

Genomic locus

chr20:31,475,288-31,484,895

External References & Databases

Ensembl (ENSG00000088320)

Transcript & Mutation Effects

hg38 • Region Span ~9.6 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 REM1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 49

not providedTotal: 1

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014012.6. 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			49 clinvar	2 clinvar	1 clinvar	52
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	54	2	1	57

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014012.6	RefSeq	NP_054731.2	4	MANE Select
ENST00000201979.3	Ensembl	ENSP00000201979.2	4	MANE Select
ENST00000898142.1	Ensembl	ENSP00000568201.1	4	Standard
ENST00000898142.2	Ensembl	ENSP00000568201.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

signal transduction
negative regulation of high voltage-gated calcium channel activity

Molecular Function

GTPase activity
calcium channel regulator activity
calmodulin binding
GTP binding

Cellular Component

plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000201979
Coding exons: 4
Length: 9613
Individuals with no LoFs: 125689
Homozygous LoFs: 1
Heterozygous LoFs: 57
Defined: 125747
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.672	169	195	0.865	0.0000134	1862
Missense (PolyPhen)		60	73.137	0.82038		654
Synonymous	0.413	73	77.6	0.940	0.00000465	660
Loss of Function	0.382	12	13.5	0.888	8.82e-7	119

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00049	0.00049	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00028	0.00027	rare
South Asian	0.00013	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling.;

Recessive Scores

pRec: 0.124

Intolerance Scores

LoFtool: 0.588
RVIS EVS: -0.16
RVIS percentile EVS: 41.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.758

Gene Damage Prediction

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