TACR2

protein-coding

tachykinin receptor 2, the group of Tachykinin receptors

Gene 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 neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]

Previous symbols:

TAC2R
NKNAR

MANE transcript

NM_001057.3

Inheritance

—

ClinVar variants

U:54B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr10:69,403,903-69,416,918

External References & Databases

Ensembl (ENSG00000075073)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TACR2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001057.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			53 clinvar	3 clinvar	3 clinvar	59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	54	4	4	62

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001057.3	RefSeq	NP_001048.2	5	MANE Select
ENST00000373306.5	Ensembl	ENSP00000362403.4	5	MANE Select
ENST00000373307.5	Ensembl	ENSP00000362404.1	3	Standard
ENST00000373307.6	Ensembl	ENSP00000362404.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Calcium signaling pathway - Homo sapiens (human)
Neuroactive ligand-receptor interaction - Homo sapiens (human)
Peptide GPCRs
Signaling by GPCR
Signal Transduction

Biological Process

muscle contraction
G protein-coupled receptor signaling pathway
tachykinin receptor signaling pathway
excretion
positive regulation of acetylcholine secretion, neurotransmission

Molecular Function

tachykinin receptor activity
protein binding
substance K receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
sperm flagellum
sperm head
sperm midpiece

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000373306
Coding exons: 5
Length: 12965
Individuals with no LoFs: 125637
Homozygous LoFs: 0
Heterozygous LoFs: 110
Defined: 125747
p: 0.000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.434	220	239	0.921	0.0000133	2583
Missense (PolyPhen)		57	64.093	0.88933		756
Synonymous	0.214	98	101	0.973	0.00000619	824
Loss of Function	1.17	8	12.5	0.641	5.33e-7	137

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00052	0.00052	rare
Ashkenazi Jewish	0.0019	0.0019	notable
East Asian	0.00093	0.00092	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00069	0.00069	rare
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). 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: substance K > neuromedin-K > substance P. {ECO:0000269|PubMed:1659297}.;

Recessive Scores

pRec: 0.151

Intolerance Scores

LoFtool: 0.814
RVIS EVS: 2.09
RVIS percentile EVS: 97.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.784

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium