ADGRF2P

adhesion G protein-coupled receptor F2, pseudogene, the group of Adhesion G protein-coupled receptors, subfamily F

Basic information

Region (hg38): 6:47673420-47693719

Previous symbols: [ "GPR111", "ADGRF2" ]

Links

ENSG00000164393 ∙ NCBI:222611 ∙ ∙ HGNC:18991 ∙ Uniprot:Q8IZF7 ∙ 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 ADGRF2P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRF2P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			49	1		50
Total	0	0	49	1	0

Variants in ADGRF2P

This is a list of pathogenic ClinVar variants found in the ADGRF2P region.

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

Position	Type	Phenotype	Significance	ClinVar
6-47679055-T-A		not specified	Uncertain significance (Jan 29, 2024)
6-47679055-T-C		not specified	Uncertain significance (Aug 08, 2022)
6-47679070-G-T		not specified	Uncertain significance (Sep 16, 2021)
6-47679135-G-A		Autism	Uncertain significance (-)
6-47680080-C-T		not specified	Uncertain significance (Oct 03, 2024)
6-47680122-T-C		not specified	Uncertain significance (May 10, 2024)
6-47680162-A-G		not specified	Uncertain significance (Feb 07, 2025)
6-47680191-A-G		not specified	Uncertain significance (Dec 20, 2023)
6-47680240-T-C		not specified	Uncertain significance (May 26, 2024)
6-47680257-A-C		not specified	Uncertain significance (Feb 11, 2022)
6-47680260-A-C		not specified	Uncertain significance (Dec 11, 2024)
6-47680261-T-A		not specified	Uncertain significance (Mar 29, 2023)
6-47680281-G-A		not specified	Uncertain significance (Feb 27, 2023)
6-47681273-C-A		not specified	Uncertain significance (Aug 02, 2021)
6-47681278-T-C		not specified	Uncertain significance (Aug 04, 2024)
6-47681383-G-A		not specified	Likely benign (Dec 16, 2024)
6-47681392-T-C		not specified	Uncertain significance (Dec 04, 2023)
6-47681418-G-C		not specified	Uncertain significance (Jun 21, 2022)
6-47681420-T-G		not specified	Uncertain significance (Nov 11, 2024)
6-47681460-A-C		not specified	Uncertain significance (Feb 06, 2023)
6-47681494-T-G		not specified	Uncertain significance (Dec 02, 2024)
6-47681501-T-A		not specified	Uncertain significance (Nov 13, 2024)
6-47681512-A-G		not specified	Uncertain significance (Jun 26, 2024)
6-47681563-C-T		not specified	Uncertain significance (Sep 28, 2021)
6-47681644-A-G		not specified	Uncertain significance (Sep 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRF2P	protein_coding	protein_coding	ENST00000296862	6	41362

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.51e-24	0.0000164	124360	2	440	124802	0.00177

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.589	394	362	1.09	0.0000170	4632
Missense in Polyphen		145	130.64	1.1099		1720
Synonymous	-1.16	150	133	1.13	0.00000621	1424
Loss of Function	-1.68	31	22.4	1.38	0.00000114	279

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00340	0.00340
Ashkenazi Jewish	0.00228	0.00229
East Asian	0.00870	0.00866
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000726	0.000724
Middle Eastern	0.00870	0.00866
South Asian	0.00337	0.00337
Other	0.00116	0.00115

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Recessive Scores

• pRec: 0.0764

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.123
• ghis: 0.403

Mouse Genome Informatics

• Gene name: Adgrf2

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway
• Cellular component: integral component of membrane
• Molecular function: G protein-coupled receptor activity