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 n... See more...

Aliases for TACR3 Gene

Aliases for TACR3 Gene

  • Tachykinin Receptor 3 2 3 4 5
  • Neuromedin-K Receptor 2 3 4
  • Neurokinin B Receptor 2 3 4
  • TAC3R 2 3 4
  • NK3R 2 3 4
  • NKR 2 3 4
  • Neurokinin Beta Receptor 2 3
  • NK-3 Receptor 3 4
  • NK3 Receptor 2 3
  • NK-3R 3 4
  • TAC3RL 3
  • TACR3 5
  • HH11 3
  • NK3 3

External Ids for TACR3 Gene

Previous GeneCards Identifiers for TACR3 Gene

  • GC04M104909
  • GC04M104969
  • GC04M104868
  • GC04M104730
  • GC04M104507
  • GC04M100245

Summaries for TACR3 Gene

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 Hypogonadotropic Hypogonadism 11 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and tachykinin receptor activity. An important paralog of this gene is TACR1.

UniProtKB/Swiss-Prot Summary for TACR3 Gene

  • 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.

Tocris Summary for TACR3 Gene

  • The neurokinin 3 (NK3) 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 (including the hippocampus, hypothalamus and substantia nigra).

Gene Wiki entry for TACR3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TACR3 Gene

Genomics for TACR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TACR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J103718 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 260.4 +0.4 352 2.2 CTCF GATA2 EZH2 TACR3 piR-37097-079 CENPE
GH04J103754 Enhancer 0.8 Ensembl ENCODE 11.9 -35.3 -35326 1.8 CEBPB MAX EP300 NFE2 MAFK CTCF NFE2L2 MAFF SP7 NFIL3 TACR3 HSALNG0036136 piR-55657-192 CXXC4
GH04J103773 Enhancer 0.2 Ensembl 5.6 -54.1 -54116 0.6 TACR3 HSALNG0036136 HSALNG0036137 CXXC4
GH04J103778 Enhancer 0.5 Ensembl 0.2 -58.7 -58716 0.6 ZNF217 FOXA1 NCOA3 POU5F1 NANOG EP300 POLR2A HSALNG0036137 HSALNG0036136 TACR3 CXXC4
GH04J103425 Promoter/Enhancer 1.2 EPDnew Ensembl 0.1 +294.8 294784 1.2 CEBPA ATF3 YY1 CEBPB FOXA1 KLF11 HOMEZ ZNF217 EP300 THAP11 LINC02428 piR-36588-320 HSALNG0036126 CENPE TACR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TACR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TACR3

Top Transcription factor binding sites by QIAGEN in the TACR3 gene promoter:
  • FOXC1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Nkx2-2
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU6F1 (c2)

Genomic Locations for TACR3 Gene

Latest Assembly
chr4:103,586,031-103,719,985
(GRCh38/hg38)
Size:
133,955 bases
Orientation:
Minus strand

Previous Assembly
chr4:104,507,188-104,641,142
(GRCh37/hg19 by Entrez Gene)
Size:
133,955 bases
Orientation:
Minus strand

chr4:104,507,188-104,640,973
(GRCh37/hg19 by Ensembl)
Size:
133,786 bases
Orientation:
Minus strand

Genomic View for TACR3 Gene

Genes around TACR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TACR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TACR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TACR3 Gene

Proteins for TACR3 Gene

  • Protein details for TACR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29371-NK3R_HUMAN
    Recommended name:
    Neuromedin-K receptor
    Protein Accession:
    P29371
    Secondary Accessions:
    • Q0P510

    Protein attributes for TACR3 Gene

    Size:
    465 amino acids
    Molecular mass:
    52202 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TACR3 Gene

Post-translational modifications for TACR3 Gene

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

Other Protein References for TACR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TACR3 Gene

Domains & Families for TACR3 Gene

Gene Families for TACR3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for TACR3 Gene

InterPro:
Blocks:
  • Neurokinin receptor signature
  • Neurokinin NK3 receptor signature

Suggested Antigen Peptide Sequences for TACR3 Gene

GenScript: Design optimal peptide antigens:
  • Tachykinin receptor 3 (NK3R_HUMAN)
  • Tachykinin receptor 3 (Q0IIN4_HUMAN)
  • TACR3 protein (Q4VBL9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29371

UniProtKB/Swiss-Prot:

NK3R_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with TACR3: view

Function for TACR3 Gene

Molecular function for TACR3 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TACR3 Gene

Gene Ontology (GO) - Molecular Function for TACR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004995 tachykinin receptor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 12716968
genes like me logo Genes that share ontologies with TACR3: view
genes like me logo Genes that share phenotypes with TACR3: view

Human Phenotype Ontology for TACR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TACR3 Gene

MGI Knock Outs for TACR3:

Animal Models for research

  • Taconic Biosciences Mouse Models for TACR3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACR3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TACR3 Gene

Localization for TACR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TACR3 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TACR3 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TACR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1374246
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TACR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TACR3 Gene

Pathways & Interactions for TACR3 Gene

genes like me logo Genes that share pathways with TACR3: view

SIGNOR curated interactions for TACR3 Gene

Gene Ontology (GO) - Biological Process for TACR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007217 tachykinin receptor signaling pathway TAS 8990205
GO:0007568 aging IEA --
GO:0010460 positive regulation of heart rate IEA --
genes like me logo Genes that share ontologies with TACR3: view

Drugs & Compounds for TACR3 Gene

(60) Drugs for TACR3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fosaprepitant Approved Pharma Neurokinin-1 antagonist 150
Talnetant Investigational Pharma Antagonist, Target NK3 receptor antagonist,potent and selective 0
Osanetant Investigational Pharma Antagonist, Target 0
Saredutant Investigational Pharma Antagonist 0
Pavinetant Investigational Pharma Target, antagonist 0

(12) Additional Compounds for TACR3 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SB 223412
Antagonist 174636-32-9
[<sup>3</sup>H]senktide
[<sup>3</sup>H]SR142,801
Antagonist
PD 157672
Antagonist

(5) Tocris Compounds for TACR3 Gene

Compound Action Cas Number
SB 218795 Potent, selective non-peptide NK3 antagonist 174635-53-1
SB 222200 Potent, selective non-peptide NK3 antagonist. Brain penetrant 174635-69-9
SB 223412 Potent, selective non-peptide NK3 antagonist. Brain penetrant 174636-32-9
Senktide Tachykinin NK3 agonist 106128-89-6
SSR 146977 hydrochloride Potent and selective NK3 antagonist 264618-38-4

(13) ApexBio Compounds for TACR3 Gene

Compound Action Cas Number
Antagonist G 115150-59-9
Eledoisin-Related Peptide 2990-43-4
Fosaprepitant Neurokinin-1 antagonist 172673-20-0
Fosaprepitant dimeglumine salt Neurokinin-1 antagonist 265121-04-8
Locustatachykinin I 126985-97-5
Neurokinin A (porcine) 86933-74-6
Neurokinin B (human, porcine) 86933-75-7
SB 218795 174635-53-1
SB-222200 Human NK-3 receptor antagonist 174635-69-9
Senktide 106128-89-6
SSR 146977 hydrochloride 264618-38-4
Substance P 33507-63-0
Talnetant NK3 receptor antagonist,potent and selective 174636-32-9
genes like me logo Genes that share compounds with TACR3: view

Drug products for research

Transcripts for TACR3 Gene

mRNA/cDNA for TACR3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACR3

Alternative Splicing Database (ASD) splice patterns (SP) for TACR3 Gene

No ASD Table

Relevant External Links for TACR3 Gene

GeneLoc Exon Structure for
TACR3

Expression for TACR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TACR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TACR3 Gene

This gene is overexpressed in Bladder (x12.0), Brain - Hypothalamus (x10.9), Brain - Amygdala (x6.7), and Brain - Spinal cord (cervical c-1) (x6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TACR3 Gene



Protein tissue co-expression partners for TACR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TACR3

SOURCE GeneReport for Unigene cluster for TACR3 Gene:

Hs.942

Evidence on tissue expression from TISSUES for TACR3 Gene

  • Nervous system(4.6)
  • Muscle(2.4)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TACR3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TACR3: view

Primer products for research

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TACR3 Gene

Orthologs for TACR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TACR3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TACR3 29 30
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TACR3 29 30
  • 88.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TACR3 29 30
  • 88.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 72 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tacr3 29 16 30
  • 85.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tacr3 29
  • 85.62 (n)
Oppossum
(Monodelphis domestica)
Mammalia TACR3 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TACR3 29 30
  • 78.68 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tacr3 29
  • 74.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii tacr3l 29 30
  • 66.05 (n)
OneToMany
tacr3a 30
  • 65 (a)
OneToMany
TACR3 (2 of 3) 30
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Takr99D 29 30 31
  • 53.12 (n)
ManyToMany
NepYr 31
  • 34 (a)
CG10626 31
  • 31 (a)
Takr86C 30 31
  • 26 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRTAK2 29
  • 52.92 (n)
Worm
(Caenorhabditis elegans)
Secernentea C49A9.7 29 31
  • 47.83 (n)
tkr-2 30
  • 32 (a)
ManyToMany
Y59H11AL.1 31
  • 30 (a)
tkr-1 30 31
  • 29 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for TACR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TACR3 Gene

ENSEMBL:
Gene Tree for TACR3 (if available)
TreeFam:
Gene Tree for TACR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TACR3: view image
Alliance of Genome Resources:
Additional Orthologs for TACR3

Paralogs for TACR3 Gene

(11) SIMAP similar genes for TACR3 Gene using alignment to 3 proteins:

  • NK3R_HUMAN
  • Q0IIN4_HUMAN
  • Q4VBL9_HUMAN
genes like me logo Genes that share paralogs with TACR3: view

Variants for TACR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TACR3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
900359 Uncertain Significance: Hypogonadotropic hypogonadism 11 with or without anosmia 103,589,874(-) G/A
NM_001059.3(TACR3):c.1206C>T (p.Thr402=)
SYNONYMOUS
901512 Uncertain Significance: Hypogonadotropic hypogonadism 11 with or without anosmia 103,658,264(-) G/A
NM_001059.3(TACR3):c.688C>T (p.Arg230Cys)
MISSENSE
901513 Uncertain Significance: Hypogonadotropic hypogonadism 11 with or without anosmia 103,719,526(-) G/A
NM_001059.3(TACR3):c.150C>T (p.Asn50=)
SYNONYMOUS
902026 Uncertain Significance: Hypogonadotropic hypogonadism 11 with or without anosmia 103,589,539(-) C/T
NM_001059.3(TACR3):c.*143G>A
THREE_PRIME_UTR
902027 Uncertain Significance: Hypogonadotropic hypogonadism 11 with or without anosmia 103,589,544(-) C/T
NM_001059.3(TACR3):c.*138G>A
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TACR3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TACR3 Gene

Variant ID Type Subtype PubMed ID
esv2658453 CNV deletion 23128226
esv2665839 CNV deletion 23128226
esv27466 CNV loss 19812545
esv2763383 CNV gain 21179565
esv3569640 CNV loss 25503493
esv3601632 CNV loss 21293372
esv3601633 CNV gain 21293372
esv3601634 CNV loss 21293372
esv3601635 CNV loss 21293372
nsv1000196 CNV loss 25217958
nsv1015023 CNV gain 25217958
nsv1073363 CNV deletion 25765185
nsv1129730 CNV tandem duplication 24896259
nsv1142402 CNV tandem duplication 24896259
nsv594985 CNV loss 21841781
nsv830023 CNV loss 17160897
nsv956426 CNV deletion 24416366

Variation tolerance for TACR3 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TACR3 Gene

Human Gene Mutation Database (HGMD)
TACR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TACR3
Leiden Open Variation Database (LOVD)
TACR3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TACR3 Gene

Disorders for TACR3 Gene

MalaCards: The human disease database

(22) MalaCards diseases for TACR3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 11 with or without anosmia
  • hh11
kallmann syndrome
  • familial hypogonadism with anosmia
normosmic congenital hypogonadotropic hypogonadism
  • normosmic idiopathic hypogonadotropic hypogonadism
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search TACR3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NK3R_HUMAN
  • 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). {ECO:0000269 PubMed:19079066, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900}. Note=The disease is caused by variants 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). {ECO:0000269 PubMed:23643382}.

Additional Disease Information for TACR3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TACR3: view

No data available for Genatlas for TACR3 Gene

Publications for TACR3 Gene

  1. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. (PMID: 19079066) Topaloglu AK … Semple RK (Nature genetics 2009) 2 3 4 22 72
  2. An association study of tachykinin receptor 3 gene with schizophrenia in the Japanese population. (PMID: 18287949) Saito S … Ozaki N (Neuroreport 2008) 3 22 40
  3. The tachykinin receptor 3 is associated with alcohol and cocaine dependence. (PMID: 18422838) Foroud T … Edenberg HJ (Alcoholism, clinical and experimental research 2008) 3 22 40
  4. The primary structure and gene organization of human substance P and neuromedin K receptors. (PMID: 1312928) Takahashi K … Nakanishi S (European journal of biochemistry 1992) 3 4 22
  5. cDNA sequence and heterologous expression of the human neurokinin-3 receptor. (PMID: 1374246) Huang RR … Fong TM (Biochemical and biophysical research communications 1992) 2 3 4

Products for TACR3 Gene

  • Addgene plasmids for TACR3

Sources for TACR3 Gene