TAC4

tachykinin precursor 4, the group of Tachykinin precursors

Basic information

Region (hg38): 17:49838300-49848069

Links

ENSG00000176358 ∙ NCBI:255061 ∙ OMIM:607833 ∙ HGNC:16641 ∙ Uniprot:Q86UU9 ∙ 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 TAC4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAC4 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						0
missense			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2		1	3
Total	0	0	5	1	1

Variants in TAC4

This is a list of pathogenic ClinVar variants found in the TAC4 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-49838644-A-C			Benign (Jul 17, 2018)
17-49839882-C-G		not specified	Uncertain significance (Sep 11, 2024)
17-49841592-AAGG-A			Benign (Jul 06, 2018)
17-49844072-C-T		not specified	Likely benign (Oct 12, 2021)
17-49844103-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-49844111-G-A		not specified	Uncertain significance (Feb 13, 2025)
17-49844150-G-T		not specified	Uncertain significance (May 23, 2023)
17-49847079-G-A		not specified	Uncertain significance (Sep 21, 2021)
17-49847279-T-G		not specified	Uncertain significance (Oct 12, 2021)
17-49847919-C-A		not specified	Uncertain significance (Jan 24, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAC4	protein_coding	protein_coding	ENST00000334568	5	9709

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000361	0.384	120507	169	4118	124794	0.0173

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0665	58	59.4	0.976	0.00000303	716
Missense in Polyphen		19	17.776	1.0689		222
Synonymous	-0.109	27	26.3	1.03	0.00000153	225
Loss of Function	0.210	7	7.63	0.918	4.09e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0783	0.0783
Ashkenazi Jewish	0.00	0.00
East Asian	0.0673	0.0675
Finnish	0.0117	0.0117
European (Non-Finnish)	0.000744	0.000733
Middle Eastern	0.0673	0.0675
South Asian	0.00513	0.00511
Other	0.0139	0.0140

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. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin- C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility. {ECO:0000269|PubMed:12716968, ECO:0000269|PubMed:17101218, ECO:0000269|PubMed:17437961, ECO:0000269|PubMed:17655832}.
• Pathway: Peptide GPCRs (Consensus)

Recessive Scores

• pRec: 0.202

Intolerance Scores

• loftool: 0.557
• rvis_EVS: 0.21
• rvis_percentile_EVS: 67.72

Haploinsufficiency Scores

• pHI: 0.00451
• hipred: N
• hipred_score: 0.123
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0378

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tac4
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: inflammatory response;positive regulation of cytosolic calcium ion concentration;tachykinin receptor signaling pathway;regulation of blood pressure;positive regulation of flagellated sperm motility
• Cellular component: extracellular space;cell
• Molecular function: substance P receptor binding