Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23432
Gene name	G protein-coupled receptor 161
Gene symbol	GPR161
Synonyms (NCBI Gene)	RE2
Chromosome	1
Chromosome location	1q24.2
Summary	The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. This gene is overexpressed in triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, thi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200635937	A>T	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022199	hsa-miR-124-3p	Microarray	18668037
MIRT1030851	hsa-miR-101	CLIP-seq
MIRT1030852	hsa-miR-1183	CLIP-seq
MIRT1030853	hsa-miR-1269	CLIP-seq
MIRT1030854	hsa-miR-1269b	CLIP-seq
MIRT1030855	hsa-miR-127-5p	CLIP-seq
MIRT1030856	hsa-miR-128	CLIP-seq
MIRT1030857	hsa-miR-1288	CLIP-seq
MIRT1030858	hsa-miR-1910	CLIP-seq
MIRT1030859	hsa-miR-203	CLIP-seq
MIRT1030860	hsa-miR-205	CLIP-seq
MIRT1030861	hsa-miR-2355-3p	CLIP-seq
MIRT1030862	hsa-miR-27a	CLIP-seq
MIRT1030863	hsa-miR-27b	CLIP-seq
MIRT1030864	hsa-miR-3133	CLIP-seq
MIRT1030865	hsa-miR-3138	CLIP-seq
MIRT1030866	hsa-miR-4456	CLIP-seq
MIRT1030867	hsa-miR-4511	CLIP-seq
MIRT1030868	hsa-miR-4515	CLIP-seq
MIRT1030869	hsa-miR-455-3p	CLIP-seq
MIRT1030870	hsa-miR-4728-3p	CLIP-seq
MIRT1030871	hsa-miR-4740-5p	CLIP-seq
MIRT1030872	hsa-miR-4793-5p	CLIP-seq
MIRT1030873	hsa-miR-4800-5p	CLIP-seq
MIRT1030874	hsa-miR-513a-5p	CLIP-seq
MIRT1030875	hsa-miR-592	CLIP-seq
MIRT1030876	hsa-miR-597	CLIP-seq
MIRT1030877	hsa-miR-604	CLIP-seq
MIRT1030878	hsa-miR-647	CLIP-seq
MIRT1030879	hsa-miR-676	CLIP-seq
MIRT1030872	hsa-miR-4793-5p	CLIP-seq
MIRT2542430	hsa-miR-1184	CLIP-seq
MIRT2542431	hsa-miR-1266	CLIP-seq
MIRT2542432	hsa-miR-3155	CLIP-seq
MIRT2542433	hsa-miR-3155b	CLIP-seq
MIRT2542434	hsa-miR-3194-5p	CLIP-seq
MIRT2542435	hsa-miR-3664-3p	CLIP-seq
MIRT2542436	hsa-miR-4518	CLIP-seq
MIRT2542437	hsa-miR-4640-5p	CLIP-seq
MIRT2542438	hsa-miR-4726-5p	CLIP-seq
MIRT2542439	hsa-miR-484	CLIP-seq
MIRT2542430	hsa-miR-1184	CLIP-seq
MIRT2542431	hsa-miR-1266	CLIP-seq
MIRT2542432	hsa-miR-3155	CLIP-seq
MIRT2542433	hsa-miR-3155b	CLIP-seq
MIRT2542434	hsa-miR-3194-5p	CLIP-seq
MIRT2542435	hsa-miR-3664-3p	CLIP-seq
MIRT2542436	hsa-miR-4518	CLIP-seq
MIRT2542437	hsa-miR-4640-5p	CLIP-seq
MIRT2542438	hsa-miR-4726-5p	CLIP-seq
MIRT2542439	hsa-miR-484	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0042995	Component	Cell projection	IEA
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	ISS
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:1901621	Process	Negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	ISS

MIM	HGNC	e!Ensembl
612250	23694	ENSG00000143147

Q8N6U8

Protein name

G-protein coupled receptor 161 (G-protein coupled receptor RE2)

Protein function

Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression mac

PDB

8KH4 , 8SMV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	44 → 324	7 transmembrane receptor (rhodopsin family)	Family

Sequence

MSLNSSLSCRKELSNLTEEEGGEGGVIITQFIAIIVITIFVCLGNLVIVVTLYKKSYLLT
LSNKFVFSLTLSNFLLSVLVLPFVVTSSIRREWIFGVVWCNFSALLYLLISSASMLTLGV
IAIDRYYAVLYPMVYPMKITGNRAVMALVYIWLHSLIGCLPPLFGWSSVEFDEFKWMCVA
AWHREPGYTAFWQIWCALFPFLVMLVCYGFIFRVARVKARKVHCGTVVIVEEDAQRTGRK
NSSTSTSSSGSRRNAFQGVVYSANQCKALITILVVLGAFMVTWGPYMVVIASEALWGKSS
VSPSLETWATWLSFASAVCHPLIYGLWNKTVRKELLGMCFGDRYYREPFVQRQRTSRLFS
ISNRITDLGLSPHLTALMAGGQPLGHSSSTGDTGFSCSQDSGTDMMLLEDYTSDDNPPSH
CTCPPKRRSSVTFEDEVEQIKEAAKNSILHVKAEVHKSLDSYAASLAKAIEAEAKINLFG
EEALPGVLVTARTVPGGGFGGRRGSRTLVSQRLQLQSIEEGDVLAAEQR

Sequence length

529

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway		Hedgehog 'off' state Hedgehog 'on' state

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Medulloblastoma	Pathogenic	rs147891461	RCV002291250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPR161-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Predisposition to medulloblastoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	29386106, 31609649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	36961676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24599592		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24599592, 8662988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29386106, 31609649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32898862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24599592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	13679043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24599592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29386106, 31609649		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	Pubtator	31609649, 32056145, 36961676	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	29386106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	30256984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	25322266		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	GENOMICS_ENGLAND_DG	25322266		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	ORPHANET_DG	25322266		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	30256984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24599592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24599592	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GPR161 (G protein-coupled receptor 161)