GCGR (glucagon receptor)

Gene

• Entrez ID: 2642
• Gene name: Glucagon receptor
• Gene symbol: GCGR
• Synonyms: GGR, GL-R, MVAH
• 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]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Transcription factors

Transcription factor	Regulation	Reference
ECD	Repression	22908259

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004967	Function	Glucagon receptor activity	IBA	21873635
GO:0004967	Function	Glucagon receptor activity	IDA	9287038, 28514451
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	9287038
GO:0005887	Component	Integral component of plasma membrane	IMP	28514451
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7773293
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IMP	9287038
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
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:0008528	Function	G protein-coupled peptide receptor activity	IBA	21873635
GO:0009267	Process	Cellular response to starvation	ISS
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016021	Component	Integral component of membrane	TAS	8144028
GO:0017046	Function	Peptide hormone binding	IBA	21873635
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042594	Process	Response to starvation	ISS
GO:0050790	Process	Regulation of catalytic activity	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	TAS

Other IDs

• MIM: 138033
• HGNC: 4192
• e!Ensembl: ENSG00000215644

Protein

• UniProt ID: 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

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Glucagon signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261

Unknown
Disease name	Disease term	dbSNP ID	References
Cushing`s syndrome	Acth-Independent Macronodular Adrenal Hyperplasia		20529775
Glucagonoma	Glucagonoma
Hyperglucagonemia	GCGR-related hyperglucagonemia	rs1202703638
Pancreatic neoplasm	Pancreatic Neoplasm