TACR3 (tachykinin receptor 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6870
Gene name Gene Name - the full gene name approved by the HGNC.
Tachykinin receptor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TACR3
Synonyms (NCBI Gene) Gene synonyms aliases
HH11, NK-3R, NK3, NK3R, NKR, TAC3R, TAC3RL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q24
Summary Summary of gene provided in NCBI Entrez 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 an
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
162332 11528 ENSG00000169836
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia rs760022956, rs121918124, rs121918125, rs144292455, rs397515483, rs727505375, rs764659822 N/A
autism spectrum disorder Autism spectrum disorder rs764659822 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadism Hypogonadism N/A N/A GWAS
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism N/A N/A GenCC
Kallmann Syndrome Kallmann syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease 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