TAC3 (tachykinin precursor 3)

Gene

• Entrez ID: 6866
• Gene name: Tachykinin precursor 3
• Gene symbol: TAC3
• Synonyms (NCBI Gene): HH10, LncZBTB39, NK3, NKB, NKNB, PRO1155, ZNEUROK1
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918123	A>G	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs143862988	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs398122393	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs727505372	G>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029228	hsa-miR-26b-5p	Microarray	19088304
MIRT1408252	hsa-miR-330-3p	CLIP-seq
MIRT1408253	hsa-miR-4434	CLIP-seq
MIRT1408254	hsa-miR-4516	CLIP-seq
MIRT1408255	hsa-miR-4531	CLIP-seq
MIRT1408256	hsa-miR-4534	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	14592957
REST	Unknown	19539370

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	TAS	10866201
GO:0005515	Function	Protein binding	IPI	23597562, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	17437961
GO:0005615	Component	Extracellular space	TAS	10866201
GO:0007217	Process	Tachykinin receptor signaling pathway	IEA
GO:0007217	Process	Tachykinin receptor signaling pathway	TAS	10866201
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007565	Process	Female pregnancy	TAS	10866201
GO:0031836	Function	Neuromedin K receptor binding	IPI	12716968
GO:0031837	Function	Substance K receptor binding	IPI	12716968
GO:0045777	Process	Positive regulation of blood pressure	IBA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IDA	17437961

Other IDs

• MIM: 162330
• HGNC: 11521
• e!Ensembl: ENSG00000166863

Protein

• UniProt ID: Q9UHF0
• Protein name: Tachykinin-3 (ZNEUROK1) [Cleaved into: Neurokinin-B (NKB) (Neuromedin-K)]
• Protein function: Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal fu
• PDB: 1P9F, 8JBG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03823	Neurokinin_B	1 → 54	Neurokinin B	Family

• Sequence:

  MRIMLLFTAILAFSLAQSFGAVCKEPQEEVVPGGGRSKRDPDLYQLLQRLFKSHSSLEGL
  LKALSQASTDPKESTSPEKRDMHDFFVGLMGKRSVQPDSPTDVNQENVPSFGILKYPPRA
  E

• Sequence length: 121

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Tachykinin receptors bind tachykinins
G alpha (q) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Delayed puberty	Likely pathogenic	rs727505372	RCV000156960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 10 with or without anosmia	Pathogenic	rs398122393	RCV000056318	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA	Pathogenic	rs121918123	RCV000030899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic	rs727505372	RCV000156959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Conflicting classifications of pathogenicity	ClinVar Disgenet Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAC3-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20580442, 28179442		★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	20194706		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	26207952	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	20194706		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	21664240		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28009489		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30311288		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	30311288		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	10866201, 16709596, 19433124, 20074343		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30044155, 32811673	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	23656837		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	10362512		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	19079066		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23329188	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10866201		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	19079066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	19079066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	19079066, 22031817, 23329188, 23341491, 24170109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	19079066		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	20395662		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	19079066, 19719764, 20389091, 28802064		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	19079066		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	19079066, 23643382		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	20332248		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	19079066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	20188792, 20389091, 20395662, 20816945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	22035731, 22766261	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility Female	Female infertility	Pubtator	32811673	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	22031817, 22035731	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Linear atrophy	Atrophy	BEFREE	31669432		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17175032		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	28009489		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1702738		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28009489		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28125591	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27983870, 30382469		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30382469	Inhibit	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	29303010		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	19079066		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27919954	Associate	★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	23656837		★☆☆☆☆ Found in Text Mining only