MTNR1B (melatonin receptor 1B)

Gene

• Entrez ID: 4544
• Gene name: Melatonin receptor 1B
• Gene symbol: MTNR1B
• Synonyms: FGQTL2, MEL-1B-R, MT2
• Chromosome: 11
• Chromosome location: 11q14.3
• Summary: This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141804752	T>A,G	Risk-factor	Coding sequence variant, genic upstream transcript variant, missense variant
rs182349376	C>A,T	Risk-factor	Missense variant, coding sequence variant
rs184917682	A>C,G	Risk-factor	Missense variant, coding sequence variant
rs387906779	G>C	Risk-factor	Missense variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2575265	hsa-miR-1254	CLIP-seq
MIRT2575266	hsa-miR-214	CLIP-seq
MIRT2575267	hsa-miR-3116	CLIP-seq
MIRT2575268	hsa-miR-3136-3p	CLIP-seq
MIRT2575269	hsa-miR-3619-5p	CLIP-seq
MIRT2575270	hsa-miR-3663-5p	CLIP-seq
MIRT2575271	hsa-miR-4530	CLIP-seq
MIRT2575272	hsa-miR-4690-5p	CLIP-seq
MIRT2575273	hsa-miR-644	CLIP-seq
MIRT2575274	hsa-miR-661	CLIP-seq
MIRT2575275	hsa-miR-663b	CLIP-seq
MIRT2575276	hsa-miR-761	CLIP-seq
MIRT2575265	hsa-miR-1254	CLIP-seq
MIRT2575266	hsa-miR-214	CLIP-seq
MIRT2575267	hsa-miR-3116	CLIP-seq
MIRT2575268	hsa-miR-3136-3p	CLIP-seq
MIRT2575269	hsa-miR-3619-5p	CLIP-seq
MIRT2685506	hsa-miR-362-5p	CLIP-seq
MIRT2575270	hsa-miR-3663-5p	CLIP-seq
MIRT2575271	hsa-miR-4530	CLIP-seq
MIRT2685507	hsa-miR-4639-5p	CLIP-seq
MIRT2575272	hsa-miR-4690-5p	CLIP-seq
MIRT2685508	hsa-miR-4753-3p	CLIP-seq
MIRT2685509	hsa-miR-4793-5p	CLIP-seq
MIRT2685510	hsa-miR-500b	CLIP-seq
MIRT2685511	hsa-miR-502-5p	CLIP-seq
MIRT2575273	hsa-miR-644	CLIP-seq
MIRT2575274	hsa-miR-661	CLIP-seq
MIRT2575275	hsa-miR-663b	CLIP-seq
MIRT2575276	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	20859254, 25770211, 26514267, 28827538
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	7568007
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7568007
GO:0007268	Process	Chemical synaptic transmission	TAS	7568007
GO:0008502	Function	Melatonin receptor activity	IEA
GO:0010754	Process	Negative regulation of cGMP-mediated signaling	IEA
GO:0042593	Process	Glucose homeostasis	IMP	20668700
GO:0043010	Process	Camera-type eye development	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045202	Component	Synapse	IEA
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	20668700
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0051970	Process	Negative regulation of transmission of nerve impulse	IEA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IEA
GO:0098908	Process	Regulation of neuronal action potential	IEA
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IEA

Other IDs

• MIM: 600804
• HGNC: 7464
• e!Ensembl: ENSG00000134640

Protein

• UniProt ID: P49286
• Protein name: Melatonin receptor type 1B (Mel-1B-R) (Mel1b receptor)
• Protein function: High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity.
• PDB: 6ME6, 6ME7, 6ME8, 6ME9, 7VH0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	57 → 308	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MSENGSFANCCEAGGWAVRPGWSGAGSARPSRTPRPPWVAPALSAVLIVTTAVDVVGNLL
  VILSVLRNRKLRNAGNLFLVSLALADLVVAFYPYPLILVAIFYDGWALGEEHCKASAFVM
  GLSVIGSVFNITAIAINRYCYICHSMAYHRIYRRWHTPLHICLIWLLTVVALLPNFFVGS
  LEYDPRIYSCTFIQTASTQYTAAVVVIHFLLPIAVVSFCYLRIWVLVLQARRKAKPESRL
  CLKPSDLRSFLTMFVVFVIFAICWAPLNCIGLAVAINPQEMAPQIPEGLFVTSYLLAYFN
  SCLNAIVYGLLNQNFRREYKRILLALWNPRHCIQDASKGSHAEGLQSPAPPIIGVQHQAD
  AL

• Sequence length: 362

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Circadian entrainment

Reactome:

Class A/1 (Rhodopsin-like receptors)
G alpha (i) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20657642
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	19060907, 30595370, 22286214, 28869590, 28254843, 19060909, 26551672, 22885922, 24509480, 30054458, 19060908

Unknown
Disease name	Disease term	dbSNP ID	References
Sclerocystic ovaries	Sclerocystic Ovaries		20207350
Polycystic ovary syndrome	Polycystic Ovary Syndrome		20207350