TACR3 (tachykinin receptor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6870
Gene name Tachykinin receptor 3
Gene symbol TACR3
Synonyms (NCBI Gene)
HH11NK-3RNK3NK3RNKRTAC3RTAC3RL
Chromosome 4
Chromosome location 4q24
Summary 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 an
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs121918124 C>G,T Not-provided, pathogenic Missense variant, coding sequence variant
rs121918125 G>A,C Not-provided, pathogenic Missense variant, coding sequence variant
rs144292455 C>T Pathogenic Stop gained, coding sequence variant
rs201195175 C>A,G Likely-pathogenic Coding sequence variant, missense variant
rs397515483 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
163
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (163)
miRTarBase ID miRNA Experiments Reference
MIRT017215 hsa-miR-335-5p Microarray 18185580
MIRT685149 hsa-miR-511-3p HITS-CLIP 23313552
MIRT685148 hsa-miR-130b-5p HITS-CLIP 23313552
MIRT685147 hsa-miR-6895-3p HITS-CLIP 23313552
MIRT685146 hsa-miR-593-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004995 Function Tachykinin receptor activity IBA
GO:0004995 Function Tachykinin receptor activity IEA
GO:0004995 Function Tachykinin receptor activity TAS 8990205
GO:0005515 Function Protein binding IPI 12716968, 23597562
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
162332 11528 ENSG00000169836
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.
P29371
Protein name Neuromedin-K receptor (NKR) (NK-3 receptor) (NK-3R) (Neurokinin B receptor) (Tachykinin receptor 3)
Protein 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:
PDB 8JBF , 8JBG , 8JBH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 102 → 356 7 transmembrane receptor (rhodopsin family) Family
Sequence 
MATLPAAETWIDGGGGVGADAVNLTASLAAGAATGAVETGWLQLLDQAGNLSSSPSALGL
PVASPAPSQPWANLTNQFVQPSWRIALWSLAYGVVVAVAVLGNLIVIWIILAHKRMRTVT
NYFLVNLAFSDASMAAFNTLVNFIYALHSEWYFGANYCRFQNFFPITAVFASIYSMTAIA
VDRYMAIIDPLKPRLSATATKIVIGSIWILAFLLAFPQCLYSKTKVMPGRTLCFVQWPEG
PKQHFTYHIIVIILVYCFPLLIMGITYTIVGITLWGGEIPGDTCDKYHEQLKAKRKVVKM
MIIVVMTFAICWLPYHIYFILTAIYQQLNRWKYIQQVYLASFWLAMSSTMYNPIIYCCLN
KRFRAGFKRAFRWCPFIKVSSYDELELKTTRFHPNRQSSMYTVTRMESMTVVFDPNDADT
TRSSRKKRATPRDPSFNGCSRRNSKSASATSSFISSPYTSVDEYS
Sequence length 465
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
  Calcium signaling pathway
Neuroactive ligand-receptor interaction 		  Tachykinin receptors bind tachykinins
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Absence of pubertal development Pathogenic rs121918125 RCV006272081
Autism spectrum disorder Likely pathogenic rs764659822 RCV003313942
Delayed puberty Likely pathogenic rs201195175 RCV000156946
Hypogonadotropic hypogonadism Pathogenic rs121918125, rs144292455 RCV006272081
RCV005646768
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance rs1374236686 RCV001849745
Isolated GnRH Deficiency Uncertain significance rs886058971, rs886058975 RCV000290573
RCV000355689
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 37700323
Alzheimer Disease Associate 33637690
Azoospermia Nonobstructive Associate 30390321
Depressive Disorder Associate 34865661
Endometrial Neoplasms Associate 30485833
Endometriosis Associate 32811673
Eunuchoidism familial hypogonadotropic Associate 19079066, 22031817
Genu valgum st Helena familial Associate 23329188
Growth Disorders Associate 23329188
Hot Flashes Associate 34865661