ADGRF4

protein-coding

adhesion G protein-coupled receptor F4, the group of Adhesion G protein-coupled receptors, subfamily F

Gene summary

Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]

Previous symbols:

GPR115

MANE transcript

NM_153838.5

Inheritance

—

ClinVar variants

U:99B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr6:47,685,864-47,722,021

External References & Databases

Ensembl (ENSG00000153294)

Transcript & Mutation Effects

hg38 • Region Span ~36.2 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 ADGRF4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 98

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153838.5. 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			99 clinvar	2 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	3	0	102

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153838.5	RefSeq	NP_722580.3	8	MANE Select
ENST00000283303.3	Ensembl	ENSP00000283303.2	8	MANE Select
NM_001347855.2	RefSeq	NP_001334784.1	8	Standard
ENST00000327753.7	Ensembl	ENSP00000328319.3	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glucocorticoid Receptor Pathway
Nuclear Receptors Meta-Pathway

Biological Process

cell surface receptor signaling pathway
G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000283303
Coding exons: 8
Length: 36158
Individuals with no LoFs: 125581
Homozygous LoFs: 0
Heterozygous LoFs: 164
Defined: 125745
p: 0.000652

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.568	404	373	1.08	0.0000190	4598
Missense (PolyPhen)		129	128.66	1.0026		1690
Synonymous	-1.18	152	135	1.13	0.00000703	1339
Loss of Function	0.650	23	26.6	0.864	0.00000135	327

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00069	0.00069	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00066	0.00065	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00044	0.00042	rare
South Asian	0.0024	0.0024	notable
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Recessive Scores

pRec: 0.0924

Intolerance Scores

RVIS EVS: 1.87
RVIS percentile EVS: 97.22