GPR180

protein-coding

G protein-coupled receptor 180, the group of 7TM uncharacterized proteins

Gene summary

This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]

MANE transcript

NM_180989.6

Inheritance

—

ClinVar variants

U:43B:9

Top phenotype

GPR180-related disorder

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr13:94,601,857-94,634,661

External References & Databases

Ensembl (ENSG00000152749)

Transcript & Mutation Effects

hg38 • Region Span ~32.8 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 GPR180 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 41

GPR180-related disorderTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_180989.6. 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			3 clinvar	3 clinvar	1 clinvar	7
missense			40 clinvar	2 clinvar	3 clinvar	45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	5	4	52

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_180989.6	RefSeq	NP_851320.1	9	MANE Select
ENST00000376958.5	Ensembl	ENSP00000366157.4	9	MANE Select
ENST00000884206.1	Ensembl	ENSP00000554265.1	7	Standard
ENST00000884206.2	Ensembl	ENSP00000554265.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

G protein-coupled receptor signaling pathway
response to pheromone

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376958
Coding exons: 9
Length: 32743
Individuals with no LoFs: 125686
Homozygous LoFs: 0
Heterozygous LoFs: 49
Defined: 125735
p: 0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.763	188	220	0.855	0.0000102	2876
Missense (PolyPhen)		59	66.369	0.88897		872
Synonymous	0.349	79	83.0	0.951	0.00000415	823
Loss of Function	1.18	16	21.9	0.729	9.32e-7	273

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00049	0.00049	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00017	0.00017	rare
South Asian	0.00020	0.00020	rare
Other	0.00051	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.191

Intolerance Scores

LoFtool: 0.865
RVIS EVS: -0.01
RVIS percentile EVS: 53.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.409

Gene Damage Prediction

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