TAC3 (tachykinin precursor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6866
Gene name Tachykinin precursor 3
Gene symbol TAC3
Synonyms (NCBI Gene)
HH10LncZBTB39NK3NKBNKNBPRO1155ZNEUROK1
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 information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ESR1 Activation 14592957
REST Unknown 19539370
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
162330 11521 ENSG00000166863
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction   Tachykinin receptors bind tachykinins
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Delayed puberty Likely pathogenic rs727505372 RCV000156960
Hypogonadotropic hypogonadism 10 with or without anosmia Pathogenic rs398122393 RCV000056318
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA Pathogenic rs121918123 RCV000030899
Hypogonadotropic hypogonadism 7 with or without anosmia Likely pathogenic rs727505372 RCV000156959
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism Conflicting classifications of pathogenicity rs146391497 RCV005254652
Infertility disorder Conflicting classifications of pathogenicity rs143862988 RCV001327940
TAC3-related disorder Uncertain significance rs374449725 RCV003408778
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Associate 26207952
Endometriosis Associate 30044155, 32811673
Eunuchoidism familial hypogonadotropic Associate 19079066, 22031817
Genu valgum st Helena familial Associate 23329188
Growth Disorders Associate 23329188
Hypogonadism Associate 19079066, 22031817, 23329188, 23341491, 24170109
Idiopathic Hypogonadotropic Hypogonadism Associate 22035731, 22766261
Infertility Female Associate 32811673
Kallmann Syndrome Associate 22031817, 22035731
Microphthalmia Isolated 1 Associate 26207952