TAC1

tachykinin precursor 1, the group of Tachykinin precursors

Basic information

Region (hg38): 7:97732083-97740472

Previous symbols: [ "TAC2", "NKNA" ]

Links

ENSG00000006128 ∙ NCBI:6863 ∙ OMIM:162320 ∙ HGNC:11517 ∙ Uniprot:P20366 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAC1 gene.

• not provided (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAC1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	1	1

Variants in TAC1

This is a list of pathogenic ClinVar variants found in the TAC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-97732624-C-G			Benign (Dec 31, 2019)
7-97733792-T-C		not specified	Uncertain significance (Oct 12, 2022)
7-97736303-T-C			Likely benign (Aug 15, 2018)
7-97736331-G-A		not specified	Uncertain significance (Jul 09, 2021)
7-97739896-G-A		not specified	Uncertain significance (Oct 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAC1	protein_coding	protein_coding	ENST00000319273	6	8565

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.746	0.252	125735	0	2	125737	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.889	46	66.4	0.693	0.00000305	843
Missense in Polyphen		17	25.927	0.6557		298
Synonymous	0.0471	23	23.3	0.988	0.00000102	227
Loss of Function	2.45	1	8.86	0.113	3.75e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles.
• Pathway: Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Tachykinin receptors bind tachykinins;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.240

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.259
• hipred: Y
• hipred_score: 0.711
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tac1
• Phenotype: renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of acute inflammatory response;inflammatory response;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;tachykinin receptor signaling pathway;neuropeptide signaling pathway;cell-cell signaling;chemical synaptic transmission;insemination;long-term memory;regulation of blood pressure;associative learning;detection of abiotic stimulus;response to hormone;negative regulation of heart rate;positive regulation of epithelial cell migration;sensory perception of pain;positive regulation of synaptic transmission, cholinergic;positive regulation of synaptic transmission, GABAergic;response to lipopolysaccharide;positive regulation of renal sodium excretion;response to morphine;positive regulation of action potential;positive regulation of ossification;positive regulation of saliva secretion;response to pain;positive regulation of lymphocyte proliferation;positive regulation of stress fiber assembly;cellular response to nerve growth factor stimulus;positive regulation of corticosterone secretion
• Cellular component: extracellular region;extracellular space;plasma membrane;axon;neuronal cell body
• Molecular function: substance P receptor binding