REEP4

receptor accessory protein 4, the group of Receptor accessory proteins

Basic information

Region (hg38): 8:22138020-22141951

Previous symbols: [ "C8orf20" ]

Links

ENSG00000168476 ∙ NCBI:80346 ∙ OMIM:609349 ∙ HGNC:26176 ∙ Uniprot:Q9H6H4 ∙ 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 REEP4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REEP4 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			33	5		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	5	0

Variants in REEP4

This is a list of pathogenic ClinVar variants found in the REEP4 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-22138491-C-T		not specified	Uncertain significance (Mar 20, 2024)
8-22138498-C-T		not specified	Likely benign (Jan 09, 2024)
8-22138545-G-A		not specified	Uncertain significance (Sep 04, 2024)
8-22138643-C-T		not specified	Uncertain significance (Jul 31, 2023)
8-22138649-G-A		not specified	Likely benign (Oct 05, 2023)
8-22138655-T-G		not specified	Uncertain significance (Feb 19, 2025)
8-22138670-C-G		not specified	Uncertain significance (Feb 07, 2025)
8-22138671-G-A		not specified	Uncertain significance (Jan 26, 2023)
8-22138685-C-T		not specified	Uncertain significance (Apr 06, 2023)
8-22138703-C-T		not specified	Uncertain significance (Mar 07, 2025)
8-22138710-G-A		not specified	Uncertain significance (Jul 11, 2023)
8-22138713-C-A		not specified	Uncertain significance (Feb 17, 2024)
8-22138713-C-G		not specified	Uncertain significance (Jan 18, 2022)
8-22138713-C-T		not specified	Uncertain significance (Jun 28, 2024)
8-22138758-C-T		not specified	Uncertain significance (Jan 23, 2025)
8-22138764-C-T		not specified	Uncertain significance (Mar 02, 2023)
8-22138787-C-T		not specified	Likely benign (Feb 27, 2024)
8-22138956-C-T		not specified	Uncertain significance (Oct 13, 2023)
8-22138968-G-A		not specified	Uncertain significance (Feb 07, 2025)
8-22138995-C-T		not specified	Likely benign (May 13, 2024)
8-22139004-T-A		not specified	Uncertain significance (Oct 29, 2021)
8-22139006-G-A		not specified	Uncertain significance (Feb 23, 2023)
8-22139037-G-T		not specified	Uncertain significance (Nov 25, 2024)
8-22139043-C-A		not specified	Uncertain significance (May 03, 2023)
8-22139043-C-T		not specified	Uncertain significance (Jan 29, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REEP4	protein_coding	protein_coding	ENST00000306306	8	3932

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0275	0.962	125722	0	13	125735	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.448	157	174	0.904	0.0000121	1630
Missense in Polyphen		27	39.973	0.67546		417
Synonymous	-0.300	73	69.8	1.05	0.00000491	511
Loss of Function	2.24	5	14.1	0.355	6.83e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000155	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000499	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000440
Middle Eastern	0.000499	0.000217
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes. {ECO:0000269|PubMed:23911198}.
• Pathway: Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.190
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.45

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.283
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.295

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Reep4

Gene ontology

• Biological process: nuclear envelope organization;mitotic nuclear envelope reassembly;cell division
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;microtubule;integral component of membrane
• Molecular function: microtubule binding