MTNR1B (melatonin receptor 1B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4544
Gene name Melatonin receptor 1B
Gene symbol MTNR1B
Synonyms (NCBI Gene)
FGQTL2MEL-1B-RMT2
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 information provided by dbSNP.
4
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.
30
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity TAS 7568007
GO:0005515 Function Protein binding IPI 20859254, 25770211, 26514267, 28827538
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600804 7464 ENSG00000134640
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency BEFREE 12050213
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 11298796
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 17632395, 21228692, 21308753, 21480980, 21691901, 25257530, 25898821, 26431121, 27314307, 27840943
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 31815152 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36658621 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 20657642
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 20657642
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
beta Thalassemia Beta thalassemia Pubtator 35733780 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 26991397
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 11270423
★★★★★
★☆☆☆☆
Found in Text Mining only