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FLASH GENE

Symbol

MTNR1B

contributors: mct - updated : 22-11-2012

HGNC name	melatonin receptor 1B
HGNC id	7464

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	13.16 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005959 2 - 1662 NP_005950 - 362 - 2009 19340560

EXPRESSION

Rna function	islets pancreatic
Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Homo sapiens Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Visual ganglion cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor
	C-terminal domain involved in internalization processes

HOMOLOGY

Homologene

FAMILY

G-protein coupled receptor 1 family

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the modulation of circadian rhythms
	may indeed be involved in transmitting melatonin's effects in the retina
	implicated in the regulation of fasting glucose levels and predisposition to type 2 diabetes
	role of melatonin receptors (MTNR1B) in pancreatic beta-cell function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

circadian

PATHWAY

metabolism

signaling

hormonal

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Alzheimer disease

Susceptibility

to type 2 diabetes (T2D) to gestational diabetes mellitus (GDM) to autism spectrum disorders

Variant & Polymorphism other	SNP that augment expression and/or activity of islet melatonin receptors, increasing risk of type 2 diabetes
	mutations were found in upstream regulatory regions in autism spectrum disorders
	association of GDM with the rs10830963 (C/G) variant i

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     blocking the melatonin ligand-receptor system could be a therapeutic avenue in T2D

ANIMAL & CELL MODELS