TACR3 tachykinin receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TACR3provided by HGNC
Official Full Name: tachykinin receptor 3provided by HGNC
Primary source: HGNC:HGNC:11528
See related: Ensembl:ENSG00000169836 MIM:162332; AllianceGenome:HGNC:11528
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NK3; NKR; HH11; NK3R; NK-3R; TAC3R; TAC3RL
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 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q24

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (103586031..103719985, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (106897954..107031922, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (104507188..104641142, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function.
Title: The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function.
Neurokinin receptors in drug and alcohol addiction.
Title: Neurokinin receptors in drug and alcohol addiction.
Identified a newly discovered stopgain mutation in tachykinin receptor 3 (TACR3) in nonobstructive azoospermia paitents.
Title: A novel stopgain mutation c.G992A (p.W331X) in TACR3 gene was identified in nonobstructive azoospermia by targeted next-generation sequencing.
Three Single-nucleotide polymorphisms (on chromosomes 3 and 11) were associated with vasomotor menopause symptoms in the African American group. However, 14 Single-nucleotide polymorphisms, all located on chromosome 4 in the tachykinin receptor 3 (TACR3) locus, had similar effect sizes across studies/participants' ancestry. Genetic variation in TACR3 may contribute to the risk of vasomotor menopause symptoms.
Title: Association of genetic variation in the tachykinin receptor 3 locus with hot flashes and night sweats in the Women's Health Initiative Study.
observations of interspecies variation in the neurokinin 3 receptor brain localization with more extensive distribution in guinea pig than in primate brain; in the human brain, specific binding to the neurokinin 3 receptor was highest in the amygdala and in the hypothalamus and very low in other regions examined
Title: Neurokinin-3 Receptor Binding in Guinea Pig, Monkey, and Human Brain: In Vitro and in Vivo Imaging Using the Novel Radioligand, [18F]Lu AF10628.
High NK-3R expression is associated with Oral Squamous Cell Carcinoma.
Title: Role of Neurokinin 3 Receptor Signaling in Oral Squamous Cell Carcinoma.
reduced to an almost undetectable level in polycystic ovary syndrome granulosa cells
Title: Neurokinin B Exerts Direct Effects on the Ovary to Stimulate Estradiol Production.
Neuropeptide derivatives to regulate the reproductive axis: Kisspeptin receptor (KISS1R) ligands and neurokinin-3 receptor (NK3R) ligands.
Title: Neuropeptide derivatives to regulate the reproductive axis: Kisspeptin receptor (KISS1R) ligands and neurokinin-3 receptor (NK3R) ligands.
results suggest that peripheral sensory nerve-derived TAC3 may affect gingival oral squamous cell carcinoma cells through TACR3 in the bone matrix
Title: Tachykinin Receptor 3 Distribution in Human Oral Squamous Cell Carcinoma.
mutations in TAC and TACR3 are not a common cause for ICPP.
Title: Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 11 with or without anosmia MedGen: C3553844 OMIM: 614840 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	not available

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S2650 (e-PCR)
- UniSTS:61989

WI-9174 (e-PCR)
- UniSTS:58676

WI-18877 (e-PCR)
- UniSTS:48494

SHGC-23760 (e-PCR)
- UniSTS:23919

SHGC-23722 (e-PCR)
- UniSTS:70518

RH70865 (e-PCR)
- UniSTS:73596

SHGC-23736 (e-PCR)
- UniSTS:67974

AFMa070th5 (e-PCR)
- UniSTS:6796

SHGC-23745 (e-PCR)
- UniSTS:44702

SHGC-50614 (e-PCR)
- UniSTS:67248

SHGC-23748 (e-PCR)
- UniSTS:34497

G34495 (e-PCR)
- UniSTS:59886

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tachykinin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of uterine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of feeding behavior	IEA Inferred from Electronic Annotation more info
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in tachykinin receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in dendrite membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neuromedin-K receptor

Names: NK-3 receptor; NK3 receptor; neurokinin B receptor; neurokinin beta receptor

NP_001050.1

EC 2.7.11.14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023344.1 RefSeqGene

Range

5001..135349

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001059.3 → NP_001050.1 neuromedin-K receptor

See identical proteins and their annotated locations for NP_001050.1

Status: REVIEWED

Source sequence(s)

AC004065, AC105460, M89473

Consensus CDS

CCDS3664.1

UniProtKB/Swiss-Prot

P29371, Q0P510

UniProtKB/TrEMBL

A0A1B0RPQ1

Related

ENSP00000303325.2, ENST00000304883.3

Conserved Domains (1) summary

cd16003
Location:86 → 367

7tmA_NKR_NK3R; neuromedin-K receptor, member of the class A family of seven-transmembrane G protein-coupled receptors