MTNR1B (melatonin receptor 1B)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4544
Gene name Gene Name - the full gene name approved by the HGNC.
Melatonin receptor 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTNR1B
Synonyms (NCBI Gene) Gene synonyms aliases
FGQTL2, MEL-1B-R, MT2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(30)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600804 7464 ENSG00000134640
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Expressed in retina and less in brain and hippocampus. {ECO:0000269|PubMed:7568007}.
Sequence
Sequence length 362
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Circadian entrainment 		  Class A/1 (Rhodopsin-like receptors)
G alpha (i) signalling events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)		 20657642
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 19060907, 30595370, 22286214, 28869590, 28254843, 19060909, 26551672, 22885922, 24509480, 30054458, 19060908
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Neuroticism Neuroticism GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (66)
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 37395040
Arthritis Associate 31815152
Atherosclerosis Associate 36658621
beta Thalassemia Associate 35733780
Breast Neoplasms Inhibit 22138747
Breast Neoplasms Associate 22138747, 30454048, 35467761, 36705562
Carcinoma Renal Cell Associate 32788609
Cardiovascular Diseases Associate 37511203
Cognitive Dysfunction Associate 20398260
Colorectal Neoplasms Associate 34608882, 34629798