REEP5

receptor accessory protein 5, the group of Receptor accessory proteins

Basic information

Region (hg38): 5:112876384-112922289

Previous symbols: [ "C5orf18" ]

Links

ENSG00000129625 ∙ NCBI:7905 ∙ OMIM:125265 ∙ HGNC:30077 ∙ Uniprot:Q00765 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the REEP5 gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REEP5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4	1	1	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	1

Variants in REEP5

This is a list of pathogenic ClinVar variants found in the REEP5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-112887090-C-T			Benign (Jan 01, 2023)
5-112902448-C-T		not specified	Uncertain significance (Apr 07, 2023)
5-112902472-G-T		not specified	Uncertain significance (Jan 06, 2023)
5-112902495-T-A		not specified	Uncertain significance (Mar 07, 2024)
5-112921221-C-A		not specified	Uncertain significance (Jul 15, 2021)
5-112921222-G-C		not specified	Uncertain significance (Jan 24, 2024)
5-112921242-C-G		not specified	Likely benign (Sep 21, 2021)
5-112922129-T-C		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REEP5	protein_coding	protein_coding	ENST00000379638	5	46153

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000697	0.766	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0760	100	102	0.979	0.00000491	1241
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000371	0.000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000116	0.000109
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.0000802	0.0000791
Middle Eastern	0.000116	0.000109
South Asian	0.0000995	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May promote functional cell surface expression of olfactory receptors.
• Pathway: Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.627
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.282
• hipred: N
• hipred_score: 0.336
• ghis: 0.636

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.508

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Reep5
• Phenotype: normal phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: integral component of membrane;endoplasmic reticulum tubular network
• Molecular function: molecular_function;protein binding