GPR173

protein-coding

G protein-coupled receptor 173, the group of G protein-coupled receptors, Class A orphans

Gene summary

This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 2009]

MANE transcript

NM_018969.6

Inheritance

—

ClinVar variants

U:34B:1

Top phenotype

Congenital portosystemic shunt

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:53,048,789-53,080,615

External References & Databases

Ensembl (ENSG00000184194)

Transcript & Mutation Effects

hg38 • Region Span ~31.8 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 GPR173 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 1

Congenital portosystemic shuntTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018969.6. 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			33 clinvar	1 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	1	0	35

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018969.6	RefSeq	NP_061842.1	1	MANE Select
ENST00000332582.5	Ensembl	ENSP00000331600.5	1	MANE Select
ENST00000375466.2	Ensembl	ENSP00000364615.2	1	Standard
ENST00000895512.1	Ensembl	ENSP00000565571.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like

Biological Process

signal transduction
G protein-coupled receptor signaling pathway
cellular response to gonadotropin-releasing hormone
negative regulation of neuron migration

Molecular Function

G protein-coupled receptor activity
gonadotropin-releasing hormone receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000332582
Coding exons: 1
Length: 31525
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.26	95	181	0.526	0.0000160	2424
Missense (PolyPhen)		10	37.733	0.26502		506
Synonymous	0.678	69	76.5	0.901	0.00000726	797
Loss of Function	2.41	0	6.77	0.00	5.02e-7	101

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Recessive Scores

pRec: 0.118

Intolerance Scores

RVIS EVS: -0.49
RVIS percentile EVS: 22.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.128

Gene Damage Prediction

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