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TACR3 Gene

protein-coding   GIFtS: 68
GCID: GC04M104507

Tachykinin Receptor 3

  See TACR3-related diseases
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
Tachykinin Receptor 31 2 3     NK-3 Receptor2 3
NK3R2 3 5     HH112 5
Neurokinin Beta Receptor1 2     TAC3RL2
Neurokinin B Receptor2 3     Neuromedin-K Receptor2
NK-3R2 3     TAC3R3
NKR2 3     

External Ids:    HGNC: 115281   Entrez Gene: 68702   Ensembl: ENSG000001698367   OMIM: 1623325   UniProtKB: P293713   

Export aliases for TACR3 gene to outside databases

Previous GC identifers: GC04M104909 GC04M104969 GC04M104868 GC04M104730 GC04M100245


(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 TACR3 Gene:
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are
specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized
by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the
tachykinin neurokinin 3, also referred to as neurokinin B. (provided by RefSeq, Jul 2008)

GeneCards Summary for TACR3 Gene:
TACR3 (tachykinin receptor 3) is a protein-coding gene. Diseases associated with TACR3 include isolated gonadotropin-releasing hormone deficiency, and hypogonadotropic hypogonadism 11 with or without anosmia. GO annotations related to this gene include tachykinin receptor activity. An important paralog of this gene is GPR83.

UniProtKB/Swiss-Prot: NK3R_HUMAN, P29371
Function: This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G
proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this
receptor to tachykinins is: neuromedin-K > substance K > substance P

summary for TACR3 Gene:
The neurokinin (NK) 3 receptor is a member of the tachykinin family of G-protein-coupled receptors which
also includes NK1 and NK2 receptors. The NK3 receptor is predominantly expressed in the CNS (hippocampus,
hypothalamus, substantia nigra, dorsal horn of the spinal cord) with limited expression in the periphery.
NK3 receptors are thought to mediate afferent neuron transmission and intestinal motility and secretion. The
receptor displays greater potency for the endogenous agonist neurokinin B than neurokinin A and substance P
(NKB > NKA > SP). The human gene encoding the NK3 receptor has been localized on chromosome 4 (4q25).

Gene Wiki entry for TACR3 (Tachykinin receptor 3) 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 TACR3 gene promoter:
         HOXA9B   HOXA9   Pbx1a   Nkx2-2   POU3F2 (N-Oct-5a)   POU6F1 (c2)   POU3F2   FOXC1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTACR3 promoter sequence
   Search Chromatin IP Primers for TACR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TACR3


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q25

TACR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TACR3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M104507:  view genomic region     (about GC identifiers)

Start:
104,507,188 bp from pter      End:
104,640,973 bp from pter
Size:
133,786 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NK3R_HUMAN, P29371 (See protein sequence)
Recommended Name: Neuromedin-K receptor  
Size: 465 amino acids; 52202 Da
Secondary accessions: Q0P510

Explore the universe of human proteins at neXtProt for TACR3: NX_P29371

Explore proteomics data for TACR3 at MOPED

Post-translational modifications: 

  • The anchoring of this receptor to the plasma membrane is probably mediated by the palmitoylation of a cysteine
    residue1
  • Glycosylation2 at Asn23, Asn50, Asn73
  • Modification sites at PhosphoSitePlus

  • See TACR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001050.1  
    ENSEMBL proteins: 
     ENSP00000303325  
    Reactome Protein details: P29371

    TACR3 Human Recombinant Protein Products:

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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:
    TACR: GPCR / Class A : Tachykinin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: NK3 receptor
    Tachykinin receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001681 Neurokn_rcpt
     IPR001013 NK3_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P29371

    ProtoNet protein and cluster: P29371

    2 Blocks protein domains:
    IPB001013 Neurokinin NK3 receptor signature
    IPB001681 Neurokinin receptor signature


    UniProtKB/Swiss-Prot: NK3R_HUMAN, P29371
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Find genes that share domains with TACR3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: NK3R_HUMAN, P29371
    Function: This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G
    proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this
    receptor to tachykinins is: neuromedin-K > substance K > substance P

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004995tachykinin receptor activity IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with TACR3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TACR3:
     Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tacr3):
     behavior/neurological  growth/size/body 

    Find genes that share phenotypes with TACR3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TACR3: Tacr3tm1Jasi Tacr3tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TACR3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TACR3

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    miRTarBase miRNAs that target TACR3:
    hsa-mir-335-5p (MIRT017215)

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    1 qRT-PCR Assays for microRNA that regulate TACR3:
    hsa-miR-22
    SwitchGear 3'UTR luciferase reporter plasmidTACR3 3' UTR sequence
    Inhib. RNA
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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
    NK3R_HUMAN, P29371: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1374246
    GO:0016020membrane ----

    Find genes that share ontologies with TACR3           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 TACR3 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Neuroactive ligand-receptor interaction0.36
    GPCR ligand binding0.71
    Tachykinin receptors bind tachykinins0.00
    Peptide ligand-binding receptors0.60
    2Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46
    3Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    4Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    5Calcium signaling pathway
    Calcium signaling pathway


    Find genes that share SuperPaths with TACR3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TACR3
        Peptide GPCRs

    2 Reactome Pathways for TACR3
        Tachykinin receptors bind tachykinins
    G alpha (q) signalling events


    2 Kegg Pathways  (Kegg details for TACR3):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TACR3: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TACR3

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

    Selected Interacting proteins for TACR3 (P293711, 3 ENSP000003033254) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPRASP1Q5JY773, ENSP000003551464I2D: score=1 STRING: ENSP00000355146
    TAC4Q86UU93, ENSP000003340424I2D: score=1 STRING: ENSP00000334042
    TAC1P203663, ENSP000003211064I2D: score=2 STRING: ENSP00000321106
    TAC3Q9UHF01, ENSP000003001084EBI-6655576,EBI-6655626 STRING: ENSP00000300108
    APPENSP000002849814STRING: ENSP00000284981
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007217tachykinin receptor signaling pathway TAS8990205
    GO:0007568aging IEA--
    GO:0010460positive regulation of heart rate IEA--
    GO:0032355response to estradiol IEA--

    Find genes that share ontologies with TACR3           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TACR3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SSR 146977 hydrochloridePotent and selective NK3 antagonist[264618-44-2]
    SB 222200 Potent, selective non-peptide NK3 antagonist. Brain penetrant [174635-69-9]
    SB 218795 Potent, selective non-peptide NK3 antagonist [174635-53-1]
    SenktideTachykinin NK3 agonist[106128-89-6]

    1 HMDB Compound for TACR3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected IUPHAR Ligands for TACR3 (NK3 receptor) (see all 31)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]SR142,801
    AntagonistAntagonist9.9--
    SSR 146977
    AntagonistAntagonist9.612056557 1205655
    SCH 206272
    AntagonistAntagonist9.512206858
    neurokinin B
    AgonistFull agonist7.7 - 9.29190866 11226387
    hemokinin 1
    AgonistFull agonist8.6 - 9.111226387
    talnetant
    AntagonistAntagonist99190866
    GSK 256471
    AntagonistAntagonist919117759
    SB 223412
    AntagonistAntagonist7.4 - 98691422 9190866 15265501 11226387
    [Phe(Me)7]neurokinin B
    AgonistFull agonist8.92176308 7476898
    SB 235375
    AntagonistAntagonist8.711752131

    Selected Novoseek inferred chemical compound relationships for TACR3 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    senktide 96.5 58 8751080 (3), 7530208 (2), 8990205 (2), 15145080 (2) (see all 37)
    sr 142801 89.7 10 7616392 (3), 14718265 (1), 11602685 (1), 9723948 (1) (see all 7)
    talnetant 86.5 6 17728699 (3), 18822303 (1), 15023866 (1)
    sr48968 86.4 6 8117304 (1), 14718265 (1), 7616392 (1), 9831720 (1) (see all 5)
    gr 73632 85.2 1 16077032 (1)
    eledoisin 83.1 3 16127708 (1), 7824047 (1)
    septide 81.8 2 8583573 (1), 9846636 (1)
    gr 82334 76.2 1 12906840 (1)
    atropine 65.6 2 7516254 (1), 11691869 (1)
    capsaicin 64.5 9 10807884 (2), 10543438 (1), 16328494 (1), 12906840 (1) (see all 7)



    Find genes that share compounds with TACR3           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 TACR3 gene: 
    NM_001059.2  

    Unigene Cluster for TACR3:

    Tachykinin receptor 3
    Hs.942  [show with all ESTs]
    Unigene Representative Sequence: M89473
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000304883(uc003hxe.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat TACR3

    Additional mRNA sequence: 

    AY462099.1 BC095527.1 BC121806.1 BC122551.1 M89473.1 

    2 DOTS entries:

    DT.304094  DT.101980157 

    3 AceView cDNA sequences:

    NM_001059 AL700003 M89473 

    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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    TACR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGCCTCCA
    TACR3 Expression
    About this image


    TACR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neurons
             Type3a Off Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Type3a Off Cone Bipolar Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Myoblasts Mandibular Arch Muscles
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
    TACR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TACR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.942
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TACR3: 
              Neurotransmitter Receptors in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TACR3

    (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 TACR3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tacr31 , 5 tachykinin receptor 31, 5 85.62(n)1
    88.5(a)1
      3 (62.47 cM)5
    213381  NM_021382.61  NP_067357.11 
     1348290075 
    chicken
    (Gallus gallus)
    Aves TACR31 tachykinin receptor 3 78.68(n)
    83.82(a)
      768993  XM_001232173.2  XP_001232174.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tacr31 tachykinin receptor 3 74.94(n)
    79.54(a)
      100486525  XM_002934762.1  XP_002934808.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tacr3l1 tachykinin receptor 3-like 66.05(n)
    69.47(a)
      559201  NM_001256635.1  NP_001243564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Takr99D1 , 3 G-protein coupled receptor protein
    signaling pathway more3
    Tachykinin-like receptor at 99D1
    46(a)
    (best of 4)3
    53.12(n)1
    44.03(a)1
      435511  NM_001170301.11  NP_001163772.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tkr-13
    C49A9.71
    G protein coupled receptor3
    C49A9.71
    35(a)
    (best of 3)3
    47.83(n)1
    38.1(a)1
      III(9457359-9458961)3
    1835951  NM_068529.11  NP_500930.11 


    ENSEMBL Gene Tree for TACR3 (if available)
    TreeFam Gene Tree for TACR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TACR3 gene
    GPR832  HCRTR22  PRLHR2  NPFFR22  NPY5R2  NPY4R2  TACR12  NPY1R2  
    NPY2R2  NPFFR12  QRFPR2  HCRTR12  TACR22  
    11 SIMAP similar genes for TACR3 using alignment to 3 protein entries:     NK3R_HUMAN (see all proteins):
    TACR1    TACR2    hA2aR    GIR    CMKLR1    HTR5A
    CCR3    GPR83    PRLHR    GNRHR2    NPY2R

    Find genes that share paralogs with TACR3           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 TACR3 (see all 3149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219181251,2,,4
    CHypogonadotropic hypogonadism 11 with or without anosmia (HH11)4 pathogenic1104314803(-) ACAATC/TCCATC 2 P S mis10--------
    rs1219181241,2,,4
    CHypogonadotropic hypogonadism 11 with or without anosmia (HH11)4 pathogenic1104442795(-) GTATGA/C/GTGTGG 2 D G mis10--------
    VAR_0699634
    Hypogonadotropic hypogonadism 11 with or without anosmia (HH11)4--see VAR_0699632 R Q mis40--------
    rs352937181,2
    F--100255866(+) ATGGTG/CGATAA 1 -- int12Minor allele frequency- C:0.50NA 6
    rs744087131,2
    C--100255881(-) CAGCAC/TGTCAA 1 -- int12Minor allele frequency- T:0.00NA 8
    rs361085071,2
    C--100267698(+) TTTTTT/-AACAC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs2003365911,2
    C--100267700(-) AAAAAA/GAGGAA 1 -- int10--------
    rs353270881,2
    C--100296474(+) TTTTT-/TCACAT 1 -- int10--------
    rs131482291,2
    C,F,H--104312563(+) TTTTAT/CACAGA 1 -- ds500113Minor allele frequency- C:0.05NA EU NS EA WA 992
    rs1823621421,2
    --104312567(+) ATACAC/GATTTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TACR3 (104507188 - 104640973 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TACR3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665839CNV Deletion23128226
    esv2658453CNV Deletion23128226
    esv27466CNV Loss19812545
    nsv830023CNV Loss17160897
    nsv879688CNV Gain21882294

    Human Gene Mutation Database (HGMD): TACR3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TACR3
    DNA2.0 Custom Variant and Variant Library Synthesis for TACR3

    (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: 162332   
    OMIM disorders: 614840  
    UniProtKB/Swiss-Prot: NK3R_HUMAN, P29371
  • Hypogonadotropic hypogonadism 11 with or without anosmia (HH11) [MIM:614840]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic
    hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients
    carrying mutations in TACR3 as well as in other HH-associated genes including FGFR1, SPRY4 and KAL1
    (PubMed:23643382)

  • 6 diseases for TACR3:    
    About MalaCards
    isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 11 with or without anosmia    tacr3-related isolated gonadotropin-releasing hormone deficiency    hypogonadotropic hypogonadism 8 with or without anosmia
    hypogonadotropic hypogonadism 17 with or without anosmia    cowden disease

    2 diseases from the University of Copenhagen DISEASES database for TACR3:
    Klinefelter's syndrome     Hypogonadism

    Find genes that share disorders with TACR3           About GenesLikeMe

    5 Novoseek inferred disease relationships for TACR3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    astrocytoma 42.6 1 7679031 (1)
    motility disorder 17.5 1 15023866 (1)
    preeclampsia 12.9 3 12783571 (1), 19555951 (1), 16709596 (1)
    schizophrenia 7.64 5 18287949 (2), 20109143 (1), 16918327 (1)
    psychiatric disorder 0 2 17728699 (1)

    GeneTests: TACR3
    GeneReviews: TACR3
    Genetic Association Database (GAD): TACR3
    Human Genome Epidemiology (HuGE) Navigator: TACR3 (10 documents)

    Export disorders for TACR3 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 TACR3 gene, integrated from 10 sources (see all 224):
    (articles sorted by number of sources associating them with TACR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence and heterologous expression of the human neurokinin-3 receptor. (PubMed id 1374246)1, 2, 3 Huang R.-R.C.... Fong T.M. (Biochem. Biophys. Res. Commun. 1992)
    2. The primary structure and gene organization of human substance P and neuromedin K receptors. (PubMed id 1312928)1, 2, 9 Takahashi K.... Nakanishi S. (Eur. J. Biochem. 1992)
    3. The tachykinin receptor 3 is associated with alcohol and cocaine dependence. (PubMed id 18422838)1, 4, 9 Foroud T....Edenberg H.J. (Alcohol. Clin. Exp. Res. 2008)
    4. An association study of tachykinin receptor 3 gene with schizophrenia in the Japanese population. (PubMed id 18287949)1, 4, 9 Saito S....Ozaki N. (Neuroreport 2008)
    5. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. (PubMed id 19079066)1, 2, 9 Topaloglu A.K.... Semple R.K. (Nat. Genet. 2009)
    6. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    7. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    8. Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. (PubMed id 19258923)1, 4 Siezen C.L....Janssen R. (Pediatr. Infect. Dis. J. 2009)
    9. Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation. (PubMed id 17448763)1, 4 Garcia-Barcelo M....Tam P.K. (J. Pediatr. Surg. 2007)
    10. Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes. (PubMed id 17703412)1, 4 Janssen R....Hoebee B. (J. Infect. Dis. 2007)

    (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: 6870 HGNC: 11528 AceView: TACR3 Ensembl:ENSG00000169836 euGenes: HUgn6870
    ECgene: TACR3 Kegg: 6870 H-InvDB: TACR3

    (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 TACR3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TACR3 gene:
    Search GeneIP for patents involving TACR3

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



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