RTP5

receptor transporter protein 5 (putative), the group of Receptor transporter proteins|Zinc fingers 3CxxC-type

Basic information

Region (hg38): 2:241869600-241873823

Previous symbols: [ "C2orf85", "CXXC11" ]

Links

ENSG00000188011 ∙ NCBI:285093 ∙ ∙ HGNC:26585 ∙ Uniprot:Q14D33 ∙ 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 RTP5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RTP5 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				1		1
missense			33	7	1	41
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	8	1

Variants in RTP5

This is a list of pathogenic ClinVar variants found in the RTP5 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-241869806-T-C		not specified	Uncertain significance (Aug 20, 2023)
2-241869829-G-A		not specified	Uncertain significance (Feb 06, 2023)
2-241869829-G-T		not specified	Uncertain significance (Apr 25, 2022)
2-241869877-G-A		not specified	Likely benign (Jan 02, 2024)
2-241869878-G-A		not specified	Uncertain significance (Oct 03, 2022)
2-241869907-C-A		not specified	Uncertain significance (Feb 02, 2024)
2-241871734-C-T			Benign (Feb 26, 2018)
2-241871745-G-A		not specified	Uncertain significance (Jun 29, 2022)
2-241871750-G-A			Likely benign (Apr 01, 2023)
2-241871800-G-A		not specified	Uncertain significance (Apr 04, 2024)
2-241871817-C-A		not specified	Uncertain significance (Jul 06, 2022)
2-241871832-C-G		not specified	Uncertain significance (Mar 30, 2024)
2-241871873-G-T		not specified	Likely benign (Jun 17, 2024)
2-241871878-C-T		not specified	Likely benign (Nov 09, 2021)
2-241871883-G-A		not specified	Uncertain significance (May 20, 2024)
2-241871937-G-A		not specified	Uncertain significance (Dec 27, 2023)
2-241871956-G-A		not specified	Likely benign (Jun 24, 2022)
2-241871962-C-G		not specified	Uncertain significance (Nov 07, 2022)
2-241872027-C-G		not specified	Uncertain significance (Mar 04, 2024)
2-241872051-G-A		not specified	Likely benign (May 05, 2023)
2-241872076-C-T		not specified	Uncertain significance (Mar 23, 2022)
2-241872084-G-T		not specified	Uncertain significance (Jun 10, 2024)
2-241872115-C-T		not specified	Uncertain significance (May 07, 2024)
2-241872137-C-A		not specified	Uncertain significance (Aug 21, 2023)
2-241872210-G-A		not specified	Uncertain significance (Feb 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RTP5	protein_coding	protein_coding	ENST00000343216	2	4224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0163	0.486	102071	0	3	102074	0.0000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.172	331	340	0.974	0.0000210	3651
Missense in Polyphen		38	57.612	0.65958		732
Synonymous	-0.757	171	159	1.08	0.0000116	1224
Loss of Function	-0.579	2	1.29	1.55	5.54e-8	16

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000205	0.000205
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000205	0.000205
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• rvis_EVS: 0.74
• rvis_percentile_EVS: 86.33

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.444

Essentials

• essential_gene_gene_trap: N

Gene ontology

• Biological process: detection of chemical stimulus involved in sensory perception of bitter taste;protein targeting to membrane;protein insertion into membrane
• Cellular component: cell surface;integral component of membrane
• Molecular function: protein binding;olfactory receptor binding