ADGRF5

adhesion G protein-coupled receptor F5, the group of I-set domain containing|Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily F

Basic information

Region (hg38): 6:46852522-46954943

Previous symbols: [ "GPR116" ]

Links

ENSG00000069122 ∙ NCBI:221395 ∙ ∙ HGNC:19030 ∙ Uniprot:Q8IZF2 ∙ 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 ADGRF5 gene.

• not_specified (164 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRF5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001098518.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			151	13		164
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	151	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRF5	protein_coding	protein_coding	ENST00000283296	20	102432

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0240	0.976	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.635	677	725	0.934	0.0000370	8882
Missense in Polyphen		167	233.49	0.71524		3005
Synonymous	-0.517	292	281	1.04	0.0000160	2588
Loss of Function	5.22	15	57.8	0.260	0.00000257	714

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.0000544	0.0000544
South Asian	0.000167	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function. {ECO:0000250|UniProtKB:G5E8Q8}.
• Pathway: GPCRs, Other (Consensus)

Recessive Scores

• pRec: 0.0966

Intolerance Scores

• rvis_EVS: -0.74
• rvis_percentile_EVS: 13.8

Haploinsufficiency Scores

• pHI: 0.0200
• hipred: N
• hipred_score: 0.273
• ghis: 0.496

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrf5
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; growth/size/body region phenotype; vision/eye phenotype; limbs/digits/tail phenotype; skeleton phenotype; immune system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: glomerular filtration;energy reserve metabolic process;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;glucose homeostasis;negative regulation of macrophage activation;surfactant homeostasis;fat cell differentiation;erythrocyte development;pharyngeal arch artery morphogenesis;positive regulation of phospholipid biosynthetic process
• Cellular component: plasma membrane;cell surface;integral component of membrane;cytoplasmic vesicle;apical part of cell
• Molecular function: G protein-coupled receptor activity