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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2642
Gene name	Glucagon receptor
Gene symbol	GCGR
Synonyms (NCBI Gene)	GGRGL-RMVAH
Chromosome	17
Chromosome location	17q25.3
Summary	The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801483	G>A	Pathogenic, benign	Coding sequence variant, missense variant, 5 prime UTR variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
MIRT1014614	hsa-miR-1268	CLIP-seq
MIRT1014615	hsa-miR-1268b	CLIP-seq
MIRT1014616	hsa-miR-145	CLIP-seq
MIRT1014617	hsa-miR-198	CLIP-seq
MIRT1014618	hsa-miR-323b-5p	CLIP-seq
MIRT1014619	hsa-miR-3940-5p	CLIP-seq
MIRT1014620	hsa-miR-4277	CLIP-seq
MIRT1014621	hsa-miR-4314	CLIP-seq
MIRT1014622	hsa-miR-4447	CLIP-seq
MIRT1014623	hsa-miR-4472	CLIP-seq
MIRT1014624	hsa-miR-4488	CLIP-seq
MIRT1014625	hsa-miR-4507	CLIP-seq
MIRT1014626	hsa-miR-4651	CLIP-seq
MIRT1014627	hsa-miR-4697-5p	CLIP-seq
MIRT1014628	hsa-miR-585	CLIP-seq
MIRT1014629	hsa-miR-608	CLIP-seq
MIRT2233942	hsa-miR-3943	CLIP-seq
MIRT2233943	hsa-miR-4286	CLIP-seq
MIRT2388396	hsa-miR-361-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
ECD	Repression	22908259

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004967	Function	Glucagon receptor activity	IBA
GO:0004967	Function	Glucagon receptor activity	IDA	9287038, 28514451
GO:0004967	Function	Glucagon receptor activity	IEA
GO:0004967	Function	Glucagon receptor activity	TAS	8144028
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9287038
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	28514451
GO:0005886	Component	Plasma membrane	TAS	8144028
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7773293
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IMP	9287038
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	8144028
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	28514451
GO:0007584	Process	Response to nutrient	TAS	7773293
GO:0008217	Process	Regulation of blood pressure	TAS	8563746
GO:0009267	Process	Cellular response to starvation	IEA
GO:0009267	Process	Cellular response to starvation	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8144028
GO:0017046	Function	Peptide hormone binding	IBA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042594	Process	Response to starvation	IEA
GO:0042594	Process	Response to starvation	ISS
GO:0070873	Process	Regulation of glycogen metabolic process	IEA
GO:0070873	Process	Regulation of glycogen metabolic process	ISS
GO:0071377	Process	Cellular response to glucagon stimulus	IDA	9287038
GO:0071377	Process	Cellular response to glucagon stimulus	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	TAS

MIM	HGNC	e!Ensembl
138033	4192	ENSG00000215644

P47871

Protein name

Glucagon receptor (GL-R)

Protein function

G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an

PDB

2A83 , 3CZF , 4ERS , 4L6R , 4LF3 , 5EE7 , 5XEZ , 6LMK , 6LML , 6WHC , 6WPW , 7V35 , 8FU6 , 8JIQ , 8JIT , 8JIU , 8JRU , 8JRV , 8WG8 , 8YW5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02793	HRM	55 → 124	Hormone receptor domain	Family
PF00002	7tm_2	138 → 396	7 transmembrane receptor (Secretin family)	Family

Sequence

MPPCQPQRPLLLLLLLLACQPQVPSAQVMDFLFEKWKLYGDQCHHNLSLLPPPTELVCNR
TFDKYSCWPDTPANTTANISCPWYLPWHHKVQHRFVFKRCGPDGQWVRGPRGQPWRDASQ
CQMDGEEIEVQKEVAKMYSSFQVMYTVGYSLSLGALLLALAILGGLSKLHCTRNAIHANL
FASFVLKASSVLVIDGLLRTRYSQKIGDDLSVSTWLSDGAVAGCRVAAVFMQYGIVANYC
WLLVEGLYLHNLLGLATLPERSFFSLYLGIGWGAPMLFVVPWAVVKCLFENVQCWTSNDN
MGFWWILRFPVFLAILINFFIFVRIVQLLVAKLRARQMHHTDYKFRLAKSTLTLIPLLGV
HEVVFAFVTDEHAQGTLRSAKLFFDLFLSSFQGLLVAVLYCFLNKEVQSELRRRWHRWRL
GKVLWEERNTSNHRASSSPGHGPPSKELQFGRGGGSQDSSAETPLAGGLPRLAESPF

Sequence length

477

Interactions

View interactions

	KEGG
	Neuroactive ligand-receptor interaction Hormone signaling Glucagon signaling pathway

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GCGR-related hyperglucagonemia	Pathogenic	rs2143128666, rs1598239171, rs1296378838, rs2509907102	RCV001374855 RCV001374860 RCV003994539 RCV003994540

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GCGR-related disorder	Benign; Likely benign	rs5386, rs5384, rs771987875, rs13306383, rs373969028, rs372925021, rs1333839810, rs1034721681, rs980081455, rs368849606	RCV003971173 RCV003978873 RCV003943758 RCV003961180 RCV003961289 RCV003966457 RCV003929328 RCV003919689 RCV003949449 RCV003952301
Type 2 diabetes mellitus	Benign; Likely benign	rs1801483	RCV000017542
Uterine carcinosarcoma	Benign	rs548342505	RCV005930344

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Islet Cell	Associate	19657311
Anxiety	Associate	22908259
Carcinoma Pancreatic Ductal	Associate	19657311
Carcinoma Renal Cell	Associate	26831905
Diabetes Mellitus	Associate	35381520
Diabetes Mellitus Type 2	Associate	25521597, 33097629
Glucagonoma	Associate	19657311
Insulinoma	Associate	29851790
Neoplasms Adipose Tissue	Associate	11707539
Sarcoma Endometrial Stromal	Associate	23178314

GCGR (glucagon receptor)