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Aliases for TAC3 Gene

Aliases for TAC3 Gene

  • Tachykinin 3 2 3 5
  • Neuromedin K 2 3
  • ZNEUROK1 3 4
  • NKNB 3 4
  • Gamma Tachykinin 3 3
  • Preprotachykinin B 3
  • Preprotachykinin-B 2
  • Neurokinin Beta 2
  • Neurokinin B 3
  • Tachykinin-3 3
  • PRO1155 3
  • HH10 3
  • NKB 3

External Ids for TAC3 Gene

Previous HGNC Symbols for TAC3 Gene

  • NKNB

Previous GeneCards Identifiers for TAC3 Gene

  • GC12M057378
  • GC12M057628
  • GC12M057120
  • GC12M055690
  • GC12M057403
  • GC12M054443

Summaries for TAC3 Gene

Entrez Gene Summary for TAC3 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 as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

GeneCards Summary for TAC3 Gene

TAC3 (Tachykinin 3) is a Protein Coding gene. Diseases associated with TAC3 include Hypogonadotropic Hypogonadism 10 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding.

UniProtKB/Swiss-Prot for TAC3 Gene

  • 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 function.

Tocris Summary for TAC3 Gene

  • The tachykinin peptides constitute one of the largest peptide families. To date, more than 40 tachykinins have been identified from invertebrate and vertebrate species. In mammals, three prototypical tachykinins have been isolated from neuronal tissue: substance P, neurokinin A and neurokinin B. Recently hemokinin-1 has been isolated from murine blood cells and identified as a new endogenous tachykinin. Three main tachykinin receptor types have been identified: NK1, NK2 and NK3 receptors.

Gene Wiki entry for TAC3 Gene

Additional gene information for TAC3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAC3 Gene

Genomics for TAC3 Gene

GeneHancer (GH) Regulatory Elements for TAC3 Gene

Promoters and enhancers for TAC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057016 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 650.4 +12.2 12199 1 PKNOX1 POLR2A TAC3 MYO1A ZBTB39
GH12J057026 Enhancer 0.9 ENCODE dbSUPER 650.7 +1.6 1647 0.7 HDAC1 MEIS2 TEAD4 TAL1 MAX TCF12 NCOR1 EGR1 CBFA2T2 CREM TAC3 MYO1A ZBTB39
GH12J057031 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.7 -2.6 -2585 0.8 CTCF TFAP4 NFIB RAD21 ZNF335 ZNF366 SCRT2 ZNF416 PRDM10 TCF7L2 BAZ2A NEMP1 MBD6 RN7SL809P RNU6-343P CDK4 EEF1AKMT3 CTDSP2 ZC3H10 OS9
GH12J057046 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 0.3 -20.1 -20124 5.5 IRF2 SAP130 ARID4B ERF EBF1 ZNF644 ZSCAN9 ZNF7 ZKSCAN1 POLR2A MYO1A TAC3
GH12J057008 Enhancer 1.1 Ensembl ENCODE 0.4 +19.9 19911 1.5 ELF3 PKNOX1 FOXA2 ZBTB40 RAD21 ZNF366 ZNF143 FOS ATF7 MIXL1 NEMP1 ZBTB39 TAC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAC3 gene promoter:
  • Meis-1b
  • Meis-1a
  • Meis-1
  • TGIF
  • SEF-1 (1)
  • C/EBPalpha
  • CHOP-10
  • HSF1short
  • HSF1 (long)
  • HNF-4alpha1

Genomic Locations for TAC3 Gene

Genomic Locations for TAC3 Gene
chr12:57,009,997-57,028,883
(GRCh38/hg38)
Size:
18,887 bases
Orientation:
Minus strand
chr12:57,403,781-57,422,667
(GRCh37/hg19)
Size:
18,887 bases
Orientation:
Minus strand

Genomic View for TAC3 Gene

Genes around TAC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAC3 Gene

Proteins for TAC3 Gene

  • Protein details for TAC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHF0-TKNK_HUMAN
    Recommended name:
    Tachykinin-3
    Protein Accession:
    Q9UHF0
    Secondary Accessions:
    • Q6IAG2
    • Q71BC6
    • Q71BC9

    Protein attributes for TAC3 Gene

    Size:
    121 amino acids
    Molecular mass:
    13438 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TAC3 Gene

    Alternative splice isoforms for TAC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAC3 Gene

Post-translational modifications for TAC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TAC3 Gene

Domains & Families for TAC3 Gene

Gene Families for TAC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for TAC3 Gene

Suggested Antigen Peptide Sequences for TAC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHF0

UniProtKB/Swiss-Prot:

TKNK_HUMAN :
  • Belongs to the tachykinin family.
Family:
  • Belongs to the tachykinin family.
genes like me logo Genes that share domains with TAC3: view

Function for TAC3 Gene

Molecular function for TAC3 Gene

UniProtKB/Swiss-Prot 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 function.
GENATLAS Biochemistry:
tachykinin 3,neurokinin B (neuromedin K)

Gene Ontology (GO) - Molecular Function for TAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 10866201
genes like me logo Genes that share ontologies with TAC3: view
genes like me logo Genes that share phenotypes with TAC3: view

Human Phenotype Ontology for TAC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAC3 Gene

MGI Knock Outs for TAC3:

miRNA for TAC3 Gene

miRTarBase miRNAs that target TAC3

Clone Products

  • Addgene plasmids for TAC3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for TAC3 Gene

Localization for TAC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAC3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAC3 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 10866201
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with TAC3: view

Pathways & Interactions for TAC3 Gene

genes like me logo Genes that share pathways with TAC3: view

Gene Ontology (GO) - Biological Process for TAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007217 tachykinin receptor signaling pathway IEA,TAS --
GO:0007218 neuropeptide signaling pathway IEA --
GO:0007565 female pregnancy TAS 10866201
genes like me logo Genes that share ontologies with TAC3: view

No data available for SIGNOR curated interactions for TAC3 Gene

Drugs & Compounds for TAC3 Gene

(34) Drugs for TAC3 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Fosaprepitant Approved Pharma Neurokinin-1 antagonist 160
Substance P Investigational Pharma Full agonist, Agonist 256
Senktide Pharma Full agonist, Agonist Tachykinin NK3 agonist 0
Antagonist G Pharma 0

(4) Additional Compounds for TAC3 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SB 223412
Antagonist 174636-32-9

(5) Tocris Compounds for TAC3 Gene

Compound Action Cas Number
SB 218795 Potent, selective non-peptide NK3 antagonist 174635-53-1
SB 222200 Potent, selective non-peptide NK3 antagonist. Brain penetrant 174635-69-9
SB 223412 Potent, selective non-peptide NK3 antagonist. Brain penetrant 174636-32-9
Senktide Tachykinin NK3 agonist 106128-89-6
SSR 146977 hydrochloride Potent and selective NK3 antagonist 264618-38-4
genes like me logo Genes that share compounds with TAC3: view

Transcripts for TAC3 Gene

mRNA/cDNA for TAC3 Gene

Unigene Clusters for TAC3 Gene

Tachykinin 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for TAC3

Alternative Splicing Database (ASD) splice patterns (SP) for TAC3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - - - -
SP8: - - - -
SP9: - - - - -
SP10:

Relevant External Links for TAC3 Gene

GeneLoc Exon Structure for
TAC3
ECgene alternative splicing isoforms for
TAC3

Expression for TAC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAC3 Gene

mRNA differential expression in normal tissues according to GTEx for TAC3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.4), Brain - Caudate (basal ganglia) (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.8), Brain - Hypothalamus (x4.8), Stomach (x4.4), Brain - Frontal Cortex (BA9) (x4.3), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for TAC3 Gene

This gene is overexpressed in Placenta (45.5), Vitreous humor (15.6), and Platelet (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TAC3 Gene



Protein tissue co-expression partners for TAC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TAC3 Gene:

TAC3

SOURCE GeneReport for Unigene cluster for TAC3 Gene:

Hs.9730

Evidence on tissue expression from TISSUES for TAC3 Gene

  • Nervous system(4.6)
  • Muscle(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TAC3: view

No data available for mRNA Expression by UniProt/SwissProt for TAC3 Gene

Orthologs for TAC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TAC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAC3 34 33
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TAC3 34 33
  • 81.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TAC3 34 33
  • 79.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tac2 16 34 33
  • 76.58 (n)
rat
(Rattus norvegicus)
Mammalia Tac3 33
  • 75.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAC3 34
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TAC3 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TAC3 34
  • 37 (a)
OneToOne
Species where no ortholog for TAC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TAC3 Gene

ENSEMBL:
Gene Tree for TAC3 (if available)
TreeFam:
Gene Tree for TAC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TAC3: view image

Paralogs for TAC3 Gene

No data available for Paralogs for TAC3 Gene

Variants for TAC3 Gene

Sequence variations from dbSNP and Humsavar for TAC3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs121918123 pathogenic, not-provided, Hypogonadotropic hypogonadism 10 without anosmia, not provided, Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839] 57,012,845(-) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs143862988 likely-pathogenic, Delayed puberty 57,012,866(-) T/C/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs398122393 pathogenic, Hypogonadotropic hypogonadism 10 with or without anosmia 57,015,737(-) CCCC/CCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs727505372 likely-pathogenic, Hypogonadotrophic hypogonadism, Delayed puberty, Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839] 57,013,359(-) G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057521962 likely-benign, not specified 57,010,288(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TAC3 Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789
nsv559022 CNV loss 21841781
nsv820171 CNV loss 19587683
nsv832428 CNV gain 17160897

Variation tolerance for TAC3 Gene

Residual Variation Intolerance Score: 65.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAC3 Gene

Human Gene Mutation Database (HGMD)
TAC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAC3 Gene

Disorders for TAC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TAC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 10 with or without anosmia
  • hh10
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
eclampsia
  • eclampsia in puerperium
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search TAC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TKNK_HUMAN
  • Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:19079066, ECO:0000269 PubMed:23643382}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TAC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TAC3: view

No data available for Genatlas for TAC3 Gene

Publications for TAC3 Gene

  1. Excessive placental secretion of neurokinin B during the third trimester causes pre-eclampsia. (PMID: 10866201) Page NM … Lowry PJ (Nature 2000) 2 3 4 22 58
  2. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. (PMID: 19079066) Topaloglu AK … Semple RK (Nature genetics 2009) 3 4 22 58
  3. The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis. (PMID: 17175032) Cunningham S … Vandenbroeck K (Journal of neuroimmunology 2007) 3 22 44 58
  4. Common variants of the neuropeptide expressing tachykinin genes and susceptibility to asthma: a case-control study. (PMID: 20580442) Klassert TE … Hernández M (Journal of neuroimmunology 2010) 3 44 58
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58

Products for TAC3 Gene

  • Addgene plasmids for TAC3

Sources for TAC3 Gene

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