GPR142

protein-coding

G protein-coupled receptor 142, the group of G protein-coupled receptors, Class A orphans

Gene summary

GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_001331076.1

Inheritance

—

ClinVar variants

U:74B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr17:74,367,458-74,372,600

External References & Databases

Ensembl (ENSG00000257008)

Transcript & Mutation Effects

hg38 • Region Span ~5.1 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 GPR142 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 76

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001331076.1. 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			5 clinvar	3 clinvar	1 clinvar	9
missense			69 clinvar	8 clinvar	1 clinvar	78
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	12	2	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001331076.1	RefSeq	NP_001318005.1	3	MANE Select
ENST00000582579.6	Ensembl	ENSP00000464632.2	3	MANE Select
NM_001331077.1	RefSeq	NP_001318006.1	3	Standard
NM_181790.1	RefSeq	NP_861455.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

cytosol
plasma membrane
integral component of membrane
cell junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000335666
Coding exons: 4
Length: 5216
Individuals with no LoFs: 125169
Homozygous LoFs: 2
Heterozygous LoFs: 576
Defined: 125747
p: 0.00230

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0875	283	287	0.985	0.0000178	2916
Missense (PolyPhen)		93	86.69	1.0728		956
Synonymous	0.952	110	123	0.891	0.00000779	1007
Loss of Function	0.0131	15	15.1	0.996	8.23e-7	145

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0011	notable
Latino/Admixed American	0.00053	0.00052	rare
Ashkenazi Jewish	0.00042	0.00040	rare
East Asian	0.00076	0.00076	rare
Finnish	0.00076	0.00074	rare
European (Non-Finnish)	0.0045	0.0043	notable
South Asian	0.00036	0.00033	rare
Other	0.00084	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Intolerance Scores

LoFtool: 0.819
RVIS EVS: -0.21
RVIS percentile EVS: 37.74

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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