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MTNR1A Gene

protein-coding   GIFtS: 63
GCID: GC04M187454

Melatonin Receptor 1A

  See MTNR1A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Melatonin Receptor 1A1 2
Mel1a Receptor2 3
MEL-1A-R2
MT12
Melatonin Receptor Type 1A2
Mel-1A-R3

External Ids:    HGNC: 74631   Entrez Gene: 45432   Ensembl: ENSG000001684127   OMIM: 6006655   UniProtKB: P480393   

Export aliases for MTNR1A gene to outside databases

Previous GC identifers: GC04M188488 GC04M188133 GC04M188149 GC04M187829 GC04M187691 GC04M187347 GC04M183202


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTNR1A Gene:
This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the
pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin
effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an
integral membrane protein that is readily detectable and localized to two specific regions of the brain. The
hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars
tuberalis may be responsible for the reproductive effects of melatonin. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTNR1A Gene:
MTNR1A (melatonin receptor 1A) is a protein-coding gene. Diseases associated with MTNR1A include sleep disorder. GO annotations related to this gene include organic cyclic compound binding and hormone binding. An important paralog of this gene is MTNR1B.

UniProtKB/Swiss-Prot: MTR1A_HUMAN, P48039
Function: High affinity receptor for melatonin. Likely to mediates 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

summary for MTNR1A Gene:
Melatonin receptors are a group of high affinity Gi/Go protein-coupled receptors, which are split into two
subtypes; MT1 and MT2. A third melatonin receptor, MT3, was proposed to exist but it has since been shown to
be the hamster homolog of human quinone reductase 2 and is therefore not considered within this GPCR
classification. MT1 and MT2 receptors are widely distributed with high concentrations found in the brain
(especially in the suprachiasmatic nucleus) and in the retina. Lower expression levels are seen in the
kidney, heart, lung and liver. Melatonin receptors regulate a variety of physiological and neuroendrocrine
functions including control of the endogenous circadian rhythm, thermoregulation and prolactin expression.
The human genes encoding MT1 and MT2 receptors are located on chromosome 4q35.1 and chromosome 11q21-22
respectively.

Gene Wiki entry for MTNR1A (Melatonin receptor 1A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTNR1A gene promoter:
         STAT5B   C/EBPbeta   HTF   STAT5A   C/EBPalpha   E47   RORalpha2   GATA-1   TGIF   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTNR1A promoter sequence
   Search Chromatin IP Primers for MTNR1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTNR1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35

MTNR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTNR1A gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M187454:  view genomic region     (about GC identifiers)

Start:
187,454,809 bp from pter      End:
187,476,721 bp from pter
Size:
21,913 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MTR1A_HUMAN, P48039 (See protein sequence)
Recommended Name: Melatonin receptor type 1A  
Size: 350 amino acids; 39375 Da
Secondary accessions: A0AVC5 B0M0L2

Explore the universe of human proteins at neXtProt for MTNR1A: NX_P48039

Explore proteomics data for MTNR1A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn4, Asn10

  • See MTNR1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005949.1  
    ENSEMBL proteins: 
     ENSP00000302811  
    Reactome Protein details: P48039

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MTNR: GPCR / Class A : Melatonin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: MT1 receptor
    Melatonin receptors

    4 InterPro protein domains:
     IPR002278 Mel_1A_rcpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000025 Melatonin_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P48039

    ProtoNet protein and cluster: P48039

    2 Blocks protein domains:
    IPB000025 Melatonin receptor signature
    IPB002278 Melatonin 1A receptor signature


    UniProtKB/Swiss-Prot: MTR1A_HUMAN, P48039
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Find genes that share domains with MTNR1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTR1A_HUMAN, P48039
    Function: High affinity receptor for melatonin. Likely to mediates 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

         Genatlas biochemistry entry for MTNR1A:
    melatonin receptor 1A,disorders with varients R54W and A157V more prominent in a Japanese population,putatively
    involved in subjects with Circadian rhythm sleep disorders,G protein coupled receptor superfamily

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0005515protein binding IPI--
    GO:0008502melatonin receptor activity IEA--
    GO:0042562hormone binding IPI10531408
    GO:0097159organic cyclic compound binding IPI10531408
         
    Find genes that share ontologies with MTNR1A           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mtnr1a):
     behavior/neurological 

    Find genes that share phenotypes with MTNR1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mtnr1atm1Rep for MTNR1A

       genOway: Develop your customized and physiologically relevant rodent model for MTNR1A

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTR1A_HUMAN, P48039: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA10531408
    GO:0016021integral component of membrane ----
    GO:0043235receptor complex IDA10531408

    Find genes that share ontologies with MTNR1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MTNR1A About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    G alpha (i) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Sweet Taste Signaling
    Melatonin Signaling0.72
    4Circadian entrainment
    Circadian entrainment0.40
    5Eicosanoid ligand-binding receptors
    Small Ligand GPCRs0.31


    Find genes that share SuperPaths with MTNR1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MTNR1A
        Melatonin Signaling

    2 BioSystems Pathways for MTNR1A
        GPCRs, Class A Rhodopsin-like
    Small Ligand GPCRs

    2 Reactome Pathways for MTNR1A
        G alpha (i) signalling events
    Class A/1 (Rhodopsin-like receptors)


    2 Kegg Pathways  (Kegg details for MTNR1A):
        Neuroactive ligand-receptor interaction
    Circadian entrainment

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MTNR1A: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Circadian Rhythms in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MTNR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MTNR1A (P480391, 2, 3 ENSP000003028114) via UniProtKB, MINT, STRING, and/or I2D (see all 171)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGS20O760811, 2, 3, ENSP000002973134EBI-1188238,EBI-1052678 MINT-8087198 MINT-8087089 MINT-8087146 MINT-8087131 MINT-8087181 MINT-8087038 MINT-8087164 I2D: score=1 STRING: ENSP00000297313
    MTNR1BP492861, 2, 3, ENSP000002570684EBI-1188238,EBI-1188341 MINT-8087089 MINT-8087107 I2D: score=3 STRING: ENSP00000257068
    CALRP277973, ENSP000003208664I2D: score=2 STRING: ENSP00000320866
    GNB1P628733, ENSP000003678724I2D: score=2 STRING: ENSP00000367872
    GNB4Q9HAV03, ENSP000002325644I2D: score=2 STRING: ENSP00000232564
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS9645677
    GO:0007617mating behavior TAS7946354
    GO:0007623circadian rhythm TAS9645677
    GO:0030828positive regulation of cGMP biosynthetic process IDA10531408

    Find genes that share ontologies with MTNR1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for MTNR1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    4-P-PDOTMT2 antagonist[134865-74-0]
    LuzindoleCompetitive melatonin MT1/MT2 antagonist[117946-91-5]
    MelatoninEndogenous hormone; agonist at MT1 and MT2[73-31-4]
    2-IodomelatoninHigh affinity melatonin agonist[93515-00-5]
    Prazosin hydrochloridealpha1 and alpha2B antagonist. MT3 antagonist[19237-84-4]

    3 DrugBank Compounds for MTNR1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ramelteon-- 196597-26-9targetmultitarget19568703 19228178 17015817 16730121 16432265 17389558 15695169 11752352 17803013 19768947 15869323 16173650 17157111
    MelatoninMEL (see all 4)73-31-4targetagonist15992934 19463840 20674373 11752352 19449447 20827520 19966183
    AgomelatineS-20098 (see all 2)138112-76-2target--15289999

    Selected IUPHAR Ligands for MTNR1A (MT1 receptor) (see all 22)    About this table
    LigandTypeActionAffinityPubmed IDs
    2-iodo-melatonin
    AgonistFull agonist10.2 - 1112764576 9089668
    ramelteon
    AgonistFull agonist10.915695169
    2-[125I]MLT
    AgonistFull agonist9.9 - 10.712764576 9089668
    agomelatine
    AgonistFull agonist10 - 10.412764576 9618428
    LY 156735
    AgonistFull agonist10.115302228
    [3H]melatonin
    AgonistFull agonist9.4 - 9.910696085
    GR 196429
    AgonistFull agonist9.4 - 9.910696085 9618428
    melatonin
    AgonistFull agonist9.1 - 9.712764576 9089668
    S26131
    AntagonistAntagonist8.4 - 9.312764576
    S26284
    AgonistPartial agonist8.5 - 9.212764576

    2 Novoseek inferred chemical compound relationships for MTNR1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2[125i]iodomelatonin 88.8 5 9247069 (2), 9089668 (2), 7568007 (1)
    melatonin 84.7 47 9141494 (3), 11841602 (2), 12973153 (2), 11408347 (2) (see all 25)



    Find genes that share compounds with MTNR1A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MTNR1A gene: 
    NM_005958.3  

    Unigene Cluster for MTNR1A:

    Melatonin receptor 1A
    Hs.243467  [show with all ESTs]
    Unigene Representative Sequence: BC126297
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307161(uc003izd.1)
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    Additional mRNA sequence: 

    AF435588.1 BC074946.2 BC074947.2 BC113816.1 BC126297.1 BC126299.1 EU432127.1 U14108.1 

    1 DOTS entry:

    DT.91748277 

    23 AceView cDNA sequences:

    AL703888 BC074947 BC074946 BC034307 BX112166 BI520221 BU567547 AI001834 
    AF435588 AI138290 CB155561 BC038717 CB122088 AI126472 NM_005958 U14108 
    AI204202 AI208101 BI520849 AI221202 BU194998 BI459826 BG719069 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTNR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTATTTCA
    MTNR1A Expression
    About this image


    MTNR1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
    MTNR1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTNR1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.243467

    UniProtKB/Swiss-Prot: MTR1A_HUMAN, P48039
    Tissue specificity: Expressed in hypophyseal pars tuberalis and hypothalamic suprachiasmatic nuclei (SCN).
    Hippocampus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MTNR1A: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Circadian Rhythms in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MTNR1A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtnr1a1 , 5 melatonin receptor 1A1, 5 81.62(n)1
    84.86(a)1
      8 (24.95 cM)5
    177731  NM_008639.21  NP_032665.11 
     450691375 
    chicken
    (Gallus gallus)
    Aves MTNR1A1 melatonin receptor 1A 74.48(n)
    80(a)
      396319  NM_205362.1  NP_990693.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTNR1A6
    melatonin receptor 1A
    82(a)
    1 ↔ 1
    5(111605694-111606563)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978082 Mel-1c receptor subtype 73.72(n)    U67881.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mel1ar2 melatonin receptor type 1A z1.7 76.87(n)   30667  AY166824.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG303406
    --
    17(a)
    1 → many
    2R(5487414-5488716)
    worm
    (Caenorhabditis elegans)
    Secernentea npr-356
    Protein C50F7.1, isoform b
    19(a)
    1 → many
    IV(7743906-7746074) WBGene00016842


    ENSEMBL Gene Tree for MTNR1A (if available)
    TreeFam Gene Tree for MTNR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTNR1A gene
    MTNR1B2  GPR502  
    3 SIMAP similar genes for MTNR1A using alignment to 3 protein entries:     MTR1A_HUMAN (see all proteins):
    MTNR1B    GPR50    CHRM2

    Find genes that share paralogs with MTNR1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTNR1A (see all 667)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs591701351,2
    C--183207660(+) AAAAA-/AAAA  
      
    /AAAAA
    GGCCA
    1 -- int11NA 2
    rs1836999751,2
    --187454314(+) TAACTC/TTGCCA 1 -- ds50010--------
    rs1150850731,2
    C,F--187454539(+) TACCCC/ATTTTG 1 -- ds50011Minor allele frequency- A:0.01WA 118
    rs21656681,2
    C,F,A,H--187454701(+) TATAAC/TGCTGA 1 -- ds500114Minor allele frequency- T:0.08NS NA WA CSA EA 624
    rs1886206301,2
    --187454705(+) ATGCTG/TACAGC 1 -- ds50010--------
    rs2012700751,2
    C--187454796(+) AAGAGC/TGAGGC 1 -- ds50010--------
    rs1128575121,2
    C--187454812(+) GCAGCG/ATGTCC 1 -- ut312Minor allele frequency- A:0.02CSA WA 120
    rs3759821641,2
    C--187454854(+) GGAGTC/TACCTT 2 N D mis10--------
    rs2001926311,2
    C--187454863(+) CTTTAC/TTACAT 2 I V mis11Minor allele frequency- T:0.00EU 1323
    rs1923707641,2
    C--187454891(+) GGAGAC/TGGTTT 2 P syn10--------

    HapMap Linkage Disequilibrium report for MTNR1A (187454809 - 187476721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MTNR1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728949CNV Deletion23290073
    esv2728948CNV Deletion23290073
    esv1214111CNV Deletion17803354
    esv1667505CNV Insertion17803354
    nsv4646CNV Insertion18451855
    nsv289366CNV Insertion16902084
    nsv525719CNV Gain19592680

    Human Gene Mutation Database (HGMD): MTNR1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTNR1A
    DNA2.0 Custom Variant and Variant Library Synthesis for MTNR1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600665    OMIM disorders: --

    1 disease for MTNR1A:    
    About MalaCards
    sleep disorder


    Find genes that share disorders with MTNR1A           About GenesLikeMe

    1 Novoseek inferred disease relationship for MTNR1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 21.7 2 11841602 (1), 17316165 (1)

    Genetic Association Database (GAD): MTNR1A
    Human Genome Epidemiology (HuGE) Navigator: MTNR1A (13 documents)

    Export disorders for MTNR1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTNR1A gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with MTNR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). (PubMed id 7558006)1, 3, 9 Slaugenhaupt S.A....Reppert S.M. (Genomics 1995)
    2. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. (PubMed id 12973153)1, 4, 9 Morcuende J.A....Sheffield V. (Spine 2003)
    3. Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. (PubMed id 10471411)1, 2, 9 Ebisawa T.... Yamauchi T. (Biochem. Biophys. Res. Commun. 1999)
    4. Lack of association between the promoter polymorphism of the MTNR1A gene and adolescent idiopathic scoliosis. (PubMed id 18794763)1, 4, 9 Qiu X.S....Qiu Y. (Spine 2008)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Examination of association of genes in the serotonin system to autism. (PubMed id 19184136)1, 4 Anderson B.M....Haines J.L. (Neurogenetics 2009)
    7. [Effect of genetic polymorphism of MTNR1A gene on adolescent idiopathic scoliosis]. (PubMed id 18067741)1, 4 Qiu X.S....Cheng C.Y. (Zhonghua Wai Ke Za Zhi 2007)
    8. Positive relationship between melatonin receptor type 1B polymorphism and rheumatoid factor in rheumatoid arthritis patients in the Korean population. (PubMed id 16098099)1, 4 Ha E....Hong S.J. (J. Pineal Res. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Cloning and characterization of a mammalian melatonin receptor that mediates reproductive and circadian responses. (PubMed id 7946354)1, 2 Reppert S.M.... Ebisawa T. (Neuron 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4543 HGNC: 7463 AceView: MTNR1A Ensembl:ENSG00000168412 euGenes: HUgn4543
    ECgene: MTNR1A Kegg: 4543 H-InvDB: MTNR1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTNR1A Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Melatonin_receptor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTNR1A gene:
    Search GeneIP for patents involving MTNR1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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