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Aliases for YWHAQ Gene

Aliases for YWHAQ Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta 2 3 5
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Theta Polypeptide 2 3
  • 14-3-3 Protein T-Cell 3 4
  • 14-3-3 Protein Tau 3 4
  • Protein, Theta 2 3
  • 14-3-3 Protein Theta 3
  • Protein Tau 2
  • Protein HS1 4
  • 14-3-3 3
  • HS1 3
  • 1C5 3

External Ids for YWHAQ Gene

Previous GeneCards Identifiers for YWHAQ Gene

  • GC02M009507
  • GC02M009775
  • GC02M009745
  • GC02M009674
  • GC02M009724

Summaries for YWHAQ Gene

Entrez Gene Summary for YWHAQ Gene

  • This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for YWHAQ Gene

YWHAQ (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta) is a Protein Coding gene. Diseases associated with YWHAQ include Lateral Sclerosis and Ideomotor Apraxia. Among its related pathways are NFAT and Cardiac Hypertrophy and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein N-terminus binding. An important paralog of this gene is YWHAB.

UniProtKB/Swiss-Prot for YWHAQ Gene

  • Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1.

Tocris Summary for YWHAQ Gene

  • 14.3.3 proteins are a group of highly conserved proteins that are involved in many vital cellular processes such as metabolism, protein trafficking, signal transduction, apoptosis and cell cycle regulation. 14.3.3 proteins are phospho-serine/-threonine binding proteins.

Gene Wiki entry for YWHAQ Gene

Additional gene information for YWHAQ Gene

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

Genomics for YWHAQ Gene

GeneHancer (GH) Regulatory Elements for YWHAQ Gene

Promoters and enhancers for YWHAQ Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I009627 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556 +0.6 551 5.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT MLX ARID4B NEUROD1 SIN3A DMAP1 YWHAQ LOC101929882 ENSG00000239300 CPSF3 RNU4-73P ENSG00000240960 KLF11 TAF1B IAH1 ENSG00000207086
GH02I009653 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -25.5 -25477 6 PKNOX1 FOXA2 ARID4B SIN3A IRF4 ZNF48 TCF12 GTF3C2 ATF7 FOS YWHAQ RNU4-73P ENSG00000240960 ADAM17 LOC105373419 LOC101926982 LOC105373418
GH02I010429 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -801.8 -801805 5.8 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 FEZF1 ZBTB7B TAF1B LOC101929882 KLF11 NOL10 C2orf48 ENSG00000217258 YWHAQ ENSG00000239300 CYS1 ENSG00000233502
GH02I009565 Enhancer 1 Ensembl ENCODE dbSUPER 11.7 +65.3 65345 1.4 ZNF362 JUN RFX5 SP1 FOSL1 JUND POLR2A FOS FOSL2 SP7 LOC101929643 YWHAQ IAH1 GC02P009616
GH02I009752 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.4 -122.5 -122506 2.5 HDGF PKNOX1 ATF1 ARNT SIN3A IRF4 TCF12 ATF7 FOS RUNX3 LOC105373420 ADAM17 LOC100996549 YWHAQ IAH1 KLF11 GRHL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around YWHAQ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the YWHAQ gene promoter:

Genomic Locations for YWHAQ Gene

Genomic Locations for YWHAQ Gene
47,089 bases
Minus strand

Genomic View for YWHAQ Gene

Genes around YWHAQ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for YWHAQ Gene

Proteins for YWHAQ Gene

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

    Protein Symbol:
    Recommended name:
    14-3-3 protein theta
    Protein Accession:
    Secondary Accessions:
    • D6W4Z5
    • Q567U5
    • Q5TZU8
    • Q9UP48

    Protein attributes for YWHAQ Gene

    245 amino acids
    Molecular mass:
    27764 Da
    Quaternary structure:
    • Homodimer. Interacts with CDK16 (By similarity). Interacts with RGS7 (phosphorylated form) (PubMed:10862767). Interacts with SSH1. Interacts with CDKN1B (Thr-198 phosphorylated form); the interaction translocates CDKN1B to the cytoplasm. Interacts with GAB2. Interacts with the Ser-241 phosphorylated form of PDPK1. Interacts with the Thr-369 phosphorylated form of DAPK2 (PubMed:26047703). Interacts with PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). Interacts with SLITRK1 (PubMed:19640509). Interacts with RIPOR2 isoform 2 (PubMed:25588844). Interacts with INAVA; the interaction increases upon PRR (pattern recognition receptor) stimulation and is required for cellular signaling pathway activation and cytokine secretion (PubMed:28436939).

    Three dimensional structures from OCA and Proteopedia for YWHAQ Gene

neXtProt entry for YWHAQ Gene

Post-translational modifications for YWHAQ Gene

  • Ser-232 is probably phosphorylated by CK1.
  • Ubiquitination at isoforms=3, isoforms=9, isoforms=27, posLast=4949, posLast=7474, and posLast=139139
  • Modification sites at PhosphoSitePlus

Other Protein References for YWHAQ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for YWHAQ Gene

Domains & Families for YWHAQ Gene

Gene Families for YWHAQ Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for YWHAQ Gene

Suggested Antigen Peptide Sequences for YWHAQ Gene

Graphical View of Domain Structure for InterPro Entry



1433T_HUMAN :
  • Belongs to the 14-3-3 family.
  • Belongs to the 14-3-3 family.
genes like me logo Genes that share domains with YWHAQ: view

Function for YWHAQ Gene

Molecular function for YWHAQ Gene

GENATLAS Biochemistry:
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein,theta polypeptide stratifin,with likely several forms,one expressed in the cytoplasmic of keratinocyte,another in T cells,multifunctional regulator involved in cell-cyle control (checkpoint) and signal transduction,inhibitor of apoptosis through inhibiting the activation of p38 MAP kinase
UniProtKB/Swiss-Prot Function:
Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1.

Phenotypes From GWAS Catalog for YWHAQ Gene

Gene Ontology (GO) - Molecular Function for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7760835
GO:0008022 protein C-terminus binding IEA --
GO:0019904 protein domain specific binding IEA --
GO:0042802 identical protein binding IPI 17085597
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with YWHAQ: view
genes like me logo Genes that share phenotypes with YWHAQ: view

Animal Model Products

miRNA for YWHAQ Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for YWHAQ Gene

Localization for YWHAQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for YWHAQ Gene

Cytoplasm. Note=In neurons, axonally transported to the nerve terminals.

Subcellular locations from

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 YWHAQ gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
cytoskeleton 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 15163635
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA,HDA 21423176
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with YWHAQ: view

Pathways & Interactions for YWHAQ Gene

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

Pathways by source for YWHAQ Gene

SIGNOR curated interactions for YWHAQ Gene


Gene Ontology (GO) - Biological Process for YWHAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0021762 substantia nigra development HEP,IEP 22926577
GO:0034766 negative regulation of ion transmembrane transport IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 15163635
genes like me logo Genes that share ontologies with YWHAQ: view

Drugs & Compounds for YWHAQ Gene

(2) Drugs for YWHAQ Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenethyl isothiocyanate Investigational Pharma Target 12
R18 Pharma 14.3.3 proteins Antagonist, Inhibitor of 14.3.3 proteins 0

(1) Additional Compounds for YWHAQ Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for YWHAQ Gene

Compound Action Cas Number
Difopein High affinity inhibitor of 14.3.3 proteins; induces apoptosis 396834-58-5
R18 Inhibitor of 14.3.3 proteins 211364-78-2

(1) ApexBio Compounds for YWHAQ Gene

Compound Action Cas Number
R18 14.3.3 proteins Antagonist 211364-78-2
genes like me logo Genes that share compounds with YWHAQ: view

Drug Products

Transcripts for YWHAQ Gene

Unigene Clusters for YWHAQ Gene

Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
SP1: - -
SP2: - - -
SP3: - - - - -
SP4: -
SP5: -

Relevant External Links for YWHAQ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for YWHAQ Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for YWHAQ Gene

Protein tissue co-expression partners for YWHAQ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of YWHAQ Gene:


SOURCE GeneReport for Unigene cluster for YWHAQ Gene:


mRNA Expression by UniProt/SwissProt for YWHAQ Gene:

Tissue specificity: Abundantly expressed in brain, heart and pancreas, and at lower levels in kidney and placenta. Up-regulated in the lumbar spinal cord from patients with sporadic amyotrophic lateral sclerosis (ALS) compared with controls, with highest levels of expression in individuals with predominant lower motor neuron involvement.

Evidence on tissue expression from TISSUES for YWHAQ Gene

  • Nervous system(5)
  • Blood(4.8)
  • Skin(4.8)
  • Liver(4.5)
  • Pancreas(4.2)
  • Lung(3.7)
  • Eye(3.6)
  • Intestine(3.3)
  • Kidney(2.9)
  • Stomach(2.5)
  • Bone(2.2)
  • Heart(2.1)
  • Muscle(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with YWHAQ: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for YWHAQ Gene

Orthologs for YWHAQ Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YWHAQ Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Ywhaq 34
  • 100 (a)
LOC102634437 33
  • 93.88 (n)
Ywhaq-ps3 16
(Pan troglodytes)
Mammalia YWHAQ 33 34
  • 99.86 (n)
(Canis familiaris)
Mammalia YWHAQ 33 34
  • 95.78 (n)
(Ornithorhynchus anatinus)
Mammalia YWHAQ 34
  • 95 (a)
(Bos Taurus)
Mammalia YWHAQ 33 34
  • 94.29 (n)
(Rattus norvegicus)
Mammalia Ywhaq 33
  • 94.29 (n)
(Monodelphis domestica)
Mammalia YWHAQ 34
  • 82 (a)
(Gallus gallus)
Aves YWHAQ 33 34
  • 88.03 (n)
(Anolis carolinensis)
Reptilia YWHAQ 34
  • 96 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ywhaq 33
  • 72.38 (n)
(Danio rerio)
Actinopterygii ywhaqa 34
  • 82 (a)
ywhaqb 33 34
  • 75.92 (n)
Dr.1068 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2365 33
fruit fly
(Drosophila melanogaster)
Insecta 14-3-3zgr 35
  • 77 (a)
14-3-3zeta 34
  • 76 (a)
(Caenorhabditis elegans)
Secernentea ftt-2 34
  • 75 (a)
par-5 34
  • 73 (a)
(Oryza sativa)
Liliopsida Os.2673 33
Species where no ortholog for YWHAQ 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)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for YWHAQ Gene

Gene Tree for YWHAQ (if available)
Gene Tree for YWHAQ (if available)

Paralogs for YWHAQ Gene

Variants for YWHAQ Gene

Sequence variations from dbSNP and Humsavar for YWHAQ Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000032984 -- 9,603,085(-) A/G intron_variant
rs1000070568 -- 9,605,368(-) C/A intron_variant
rs1000114407 -- 9,623,491(-) C/T intron_variant
rs1000156104 -- 9,608,691(-) G/A intron_variant
rs1000176511 -- 9,591,229(-) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1011802 CNV gain 25217958
nsv214045 CNV deletion 16902084
nsv580915 CNV gain 21841781
nsv963210 CNV duplication 23825009

Variation tolerance for YWHAQ Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YWHAQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for YWHAQ Gene

MalaCards: The human disease database

(2) MalaCards diseases for YWHAQ Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lateral sclerosis
  • motor neuron disease
ideomotor apraxia
  • classic apraxia [ambiguous]
- elite association - COSMIC cancer census association via MalaCards
Search YWHAQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for YWHAQ

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

No data available for UniProtKB/Swiss-Prot and Genatlas for YWHAQ Gene

Publications for YWHAQ Gene

  1. A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. (PMID: 11080204) Malaspina A … de Belleroche J (Journal of neurochemistry 2000) 2 3 4 58
  2. An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes. (PMID: 28436939) Yan J … Abraham C (The Journal of clinical investigation 2017) 3 4 58
  3. Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils. (PMID: 25588844) Gao K … Wu D (Journal of cell science 2015) 3 4 58
  4. ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding. (PMID: 23572552) Greninger AL … DeRisi JL (mBio 2013) 3 4 58
  5. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A … Carracedo A (Gynecologic oncology 2009) 3 44 58

Products for YWHAQ Gene

Sources for YWHAQ Gene

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