GPR21

G protein-coupled receptor 21, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 9:123033666-123035665

Links

ENSG00000188394 ∙ NCBI:2844 ∙ OMIM:601909 ∙ HGNC:4476 ∙ Uniprot:Q99679 ∙ 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 GPR21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR21 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in GPR21

This is a list of pathogenic ClinVar variants found in the GPR21 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-123034637-C-G		not specified	Uncertain significance (Jan 19, 2024)
9-123034712-T-C		not specified	Uncertain significance (Oct 03, 2022)
9-123034756-A-G		not specified	Uncertain significance (Sep 27, 2022)
9-123034846-C-T		not specified	Uncertain significance (Oct 12, 2021)
9-123034934-T-C		not specified	Uncertain significance (Aug 30, 2021)
9-123034973-C-T		not specified	Uncertain significance (Dec 18, 2023)
9-123034976-A-G		not specified	Uncertain significance (Apr 18, 2023)
9-123034978-A-G		not specified	Uncertain significance (Dec 08, 2023)
9-123035003-T-A		not specified	Uncertain significance (Jun 22, 2024)
9-123035071-G-T		not specified	Uncertain significance (Jan 19, 2024)
9-123035117-C-T		not specified	Uncertain significance (Nov 08, 2022)
9-123035204-A-T		not specified	Uncertain significance (Jan 26, 2022)
9-123035207-T-C		not specified	Uncertain significance (Mar 18, 2024)
9-123035213-G-A		not specified	Uncertain significance (Aug 23, 2021)
9-123035245-G-A		not specified	Likely benign (Oct 26, 2022)
9-123035303-C-G		not specified	Uncertain significance (Jul 12, 2023)
9-123035339-C-G		not specified	Uncertain significance (May 05, 2023)
9-123035407-A-C		not specified	Uncertain significance (Oct 12, 2022)
9-123035443-G-A		not specified	Uncertain significance (Jun 16, 2024)
9-123035533-T-C		not specified	Uncertain significance (Jun 21, 2023)
9-123035566-G-A		not specified	Uncertain significance (Jun 22, 2021)
9-123035591-G-T		not specified	Uncertain significance (Oct 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR21	protein_coding	protein_coding	ENST00000373642	1	1170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.113	0.862	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.416	174	190	0.915	0.0000101	2308
Missense in Polyphen		58	79.568	0.72893		975
Synonymous	-0.926	84	73.9	1.14	0.00000398	690
Loss of Function	1.92	3	9.34	0.321	4.67e-7	118

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: GPCRs, Class A Rhodopsin-like;Vesicle-mediated transport;TBC/RABGAPs;Membrane Trafficking;Rab regulation of trafficking (Consensus)

Intolerance Scores

• loftool: 0.583
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.448
• hipred: N
• hipred_score: 0.219
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr21
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;positive regulation of multicellular organism growth;glucose homeostasis;negative regulation of insulin receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity