MTNR1B: Polycystic Ovarian Syndrome Database

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MTNR1B

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

MTNR1B

Aliases

FGQTL2, MEL-1B-R, MT2

Entrez Gene ID

4544

Gene Name

Melatonin receptor 1B

Chromosomal Location

11q14.3

HGNC ID

HGNC:7464

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 in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_028160.1

RefSeq mRNA

NM_005959.3, NM_005959.5

e!Ensembl

Gene	ENSG00000134640
Transcript	ENST00000257068, ENST00000532482, ENST00000528076
Protein	ENSP00000257068, ENSP00000436101, ENSP00000433573

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs10830963	AGTGATGCTAAGAATTCACACCATCT	C/G	CTATCCAGAACCAGTAACTGCCTGG	Intron variant	20959387

Gene Ontology (GO)

Show/Hide all(9 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007187	Biological process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	7568007
GO:0007268	Biological process	Chemical synaptic transmission	TAS	7568007
GO:0042593	Biological process	Glucose homeostasis	IMP	20668700
GO:0050796	Biological process	Regulation of insulin secretion	IBA	21873635
GO:0050796	Biological process	Regulation of insulin secretion	IMP	20668700
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	7568007
GO:0004930	Molecular function	G protein-coupled receptor activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	20859254, 26514267, 28827538

Protein Information

Protein Name

Melatonin receptor type 1B, mel1b receptor, melatonin receptor 1B variant b, melatonin receptor MEL1B

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

Refseq Proteins

NP_005950.1

UniProt

P49286

Pfam

Pfam Accession	Pfam ID
PF00001	7tm_1

Pathways
	KEGG	Reactome
	Neuroactive ligand-receptor interaction Circadian entrainment	Class A/1 (Rhodopsin-like receptors) G alpha (i) signalling events

Interactions

STRING	MINT	IntAct
ENSP00000370129		P52895

View interactions

Associated Diseases

Show/Hide all(4 )

Disease group	Disease Name	References
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Meniere Disease	28787010
Endocrine System Diseases
	Diabetes Mellitus	22286214, 26551672, 19060908, 19060909, 19060907, 28869590, 24509480, 22885922, 28254843
	PCOS	20959387
Neoplasms
Neoplasms	Ovarian Cancer	20207350
Psychiatric/Brain disorders
	Autistic Disorder	20657642
	Schizophrenia	21526376

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
20959387			SNP, rs10830963 in MTNR1B	Rotterdam criteria	Related	526 patients with PCOS and 547 healthy Chinese Han women	SNP, rs10830963, in the MTNR1B gene is not only associated with susceptibility to PCOS, but also contributes to the PCOS phenotype
20207350		serum testosterone, glucose tolerance, insulin secretion		Rotterdam criteria	Related		MTNR1B mediating some functions of melatonin contributes to the phenotypic expression ofpolycystic ovary syndrome, which provide a new insight into the role of MTNR1B gene in the pathophysiology of the disease.

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