GPR180 G protein-coupled receptor 180 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPR180provided by HGNC
Official Full Name: G protein-coupled receptor 180provided by HGNC
Primary source: HGNC:HGNC:28899
See related: Ensembl:ENSG00000152749 MIM:607787; AllianceGenome:HGNC:28899
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ITR
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]
Expression: Ubiquitous expression in fat (RPKM 4.6), thyroid (RPKM 2.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (94601857..94634661)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (93805369..93838171)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (95254111..95286915)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling.
Title: Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling.
GPR180 is a component of TGFbeta signalling that promotes thermogenic adipocyte function and mediates the metabolic effects of the adipocyte-secreted factor CTHRC1.
Title: GPR180 is a component of TGFβ signalling that promotes thermogenic adipocyte function and mediates the metabolic effects of the adipocyte-secreted factor CTHRC1.
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.
Title: Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.
A null GPR180 mutation segregates over two generations with iridocorneal angle dysgenesis, consistent with the view that deletions of this gene are the cause of MCOR.
Title: Submicroscopic deletions at 13q32.1 cause congenital microcoria.
22 SNPs were isolated from the ITR locus by systematically screening genomic DNA from 48 healthy Japanese individuals
Title: High-density SNP map of human ITR, a gene associated with vascular remodeling.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S655E (e-PCR)
- UniSTS:153186

ITR__6484 (e-PCR)
- UniSTS:464000

A008J34 (e-PCR)
- UniSTS:151

WI-14300 (e-PCR)
- UniSTS:62180

WI-18634 (e-PCR)
- UniSTS:3569

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in response to pheromone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: integral membrane protein GPR180

Names: intimal thickness-related receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.