TAC3 (tachykinin precursor 3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6866
Gene name Gene Name - the full gene name approved by the HGNC.
Tachykinin precursor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAC3
Synonyms (NCBI Gene) Gene synonyms aliases
HH10, LncZBTB39, NK3, NKB, NKNB, PRO1155, ZNEUROK1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
ESR1 Activation 14592957
REST Unknown 19539370
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
162330 11521 ENSG00000166863
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 10 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia rs398122393, rs727505372 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism N/A N/A GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease 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