REEP5

protein-coding

receptor accessory protein 5, the group of Receptor accessory proteins

Gene summary

Predicted to be involved in endoplasmic reticulum membrane organization. Located in endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C5orf18

MANE transcript

NM_005669.5

Inheritance

—

ClinVar variants

U:21B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.65

Max pathogenic AF

—

Genomic locus

chr5:112,876,385-112,922,289

External References & Databases

Ensembl (ENSG00000129625)

Transcript & Mutation Effects

hg38 • Region Span ~45.9 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 REEP5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 18

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005669.5. 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			17 clinvar	2 clinvar	1 clinvar	20
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	21	2	1	24

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005669.5	RefSeq	NP_005660.4	5	MANE Select
ENST00000379638.9	Ensembl	ENSP00000368959.4	5	MANE Select
ENST00000261482.8	Ensembl	ENSP00000261482.4	5	Standard
ENST00000504247.1	Ensembl	ENSP00000421881.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
Olfactory Signaling Pathway
G alpha (s) signalling events
GPCR downstream signalling

Biological Process

biological_process

Molecular Function

molecular_function
protein binding

Cellular Component

integral component of membrane
endoplasmic reticulum tubular network

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379638
Coding exons: 5
Length: 46153
Individuals with no LoFs: 125724
Homozygous LoFs: 0
Heterozygous LoFs: 24
Defined: 125748
p: 0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0760	100	102	0.979	0.00000491	1241
Missense (PolyPhen)		34	34.725	0.97912		454
Synonymous	-0.824	47	40.3	1.17	0.00000203	351
Loss of Function	0.999	6	9.29	0.646	4.02e-7	111

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00012	0.00011	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000099	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May promote functional cell surface expression of olfactory receptors.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.627
RVIS EVS: -0.1
RVIS percentile EVS: 46.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

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