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, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin se... See more...

Aliases for YWHAZ Gene

Aliases for YWHAZ Gene

  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta 2 3 5
  • KCIP-1 2 3 4
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Delta Polypeptide 2 3
  • Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Zeta Polypeptide 2 3
  • 14-3-3 Protein Zeta/Delta 3 4
  • 14-3-3 Delta 2 3
  • 14-3-3 Zeta 2 3
  • 14-3-3-Zeta 2 3
  • Tyrosine 3/Tryptophan 5 -Monooxygenase Activation Protein, Zeta Polypeptide 3
  • 14-3-3 Protein/Cytosolic Phospholipase A2 3
  • Protein Kinase C Inhibitor Protein-1 3
  • Protein Kinase C Inhibitor Protein 1 4
  • Epididymis Secretory Protein Li 93 3
  • Epididymis Secretory Protein Li 3 3
  • Epididymis Luminal Protein 4 3
  • Phospholipase A2 3
  • HEL-S-93 3
  • HEL-S-3 3
  • POPCHAS 3
  • YWHAD 3
  • YWHAZ 5
  • HEL4 3

External Ids for YWHAZ Gene

Previous HGNC Symbols for YWHAZ Gene

  • YWHAD

Previous GeneCards Identifiers for YWHAZ Gene

  • GC08M100936
  • GC08M101999
  • GC08M101599
  • GC08M101887
  • GC08M102000
  • GC08M101930
  • GC08M097128

Summaries for YWHAZ Gene

Entrez Gene Summary for YWHAZ 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, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for YWHAZ Gene

YWHAZ (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta) is a Protein Coding gene. Diseases associated with YWHAZ include Epilepsy, Idiopathic Generalized 11 and Ophthalmia Nodosa. Among its related pathways are DNA Double-Strand Break Repair and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is YWHAB.

UniProtKB/Swiss-Prot Summary for YWHAZ 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. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (PubMed:16959763). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity).

Tocris Summary for YWHAZ 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 YWHAZ Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YWHAZ Gene

Genomics for YWHAZ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for YWHAZ 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
GH08J100947 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 297.7 +2.8 2843 7.8 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 ZNF580 ZNF592 ATF2 POLR2A YWHAZ PABPC1 RNF19A ENSG00000260368 lnc-YWHAZ-3 lnc-PABPC1-4
GH08J100955 Enhancer 0.5 ENCODE dbSUPER 250.7 -1.7 -1740 0.2 FEZF1 L3MBTL2 YWHAZ piR-35564-141 ZNF706
GH08J100985 Enhancer 1 Ensembl ENCODE 46 -32.5 -32521 2 ZNF592 BHLHE40 MNT ARNT TAF9B NBN RELA JUND ZNF318 SMARCA4 YWHAZ RN7SL685P RNF19A PABPC1 HSALNG0067325 HSALNG0067326 lnc-YWHAZ-4 ZNF706
GH08J100922 Enhancer 0.6 dbSUPER 60.9 +28.6 28600 5.8 POLR2A MAFF RXRA ZNF316 SMARCA5 MAFK BHLHE40 MAFG IKZF1 IKZF2 HSALNG0067321 YWHAZ RN7SL685P ENSG00000260368 lnc-PABPC1-3 PABPC1
GH08J100905 Promoter/Enhancer 1.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.3 +46.4 46358 4 IKZF1 ATF2 CEBPA BRCA1 POLR2A ZIC2 YY1 ZNF217 REST CEBPB lnc-GRHL2-19 YWHAZ ANKRD46 FLJ42969 ZNF706 PABPC1 HSALNG0067315 HSALNG0067318
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around YWHAZ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YWHAZ

Top Transcription factor binding sites by QIAGEN in the YWHAZ gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for YWHAZ Gene

Latest Assembly
chr8:100,916,523-100,954,068
(GRCh38/hg38)
Size:
37,546 bases
Orientation:
Minus strand

Previous Assembly
chr8:101,928,751-101,965,610
(GRCh37/hg19 by Entrez Gene)
Size:
36,860 bases
Orientation:
Minus strand

chr8:101,928,753-101,965,616
(GRCh37/hg19 by Ensembl)
Size:
36,864 bases
Orientation:
Minus strand

Genomic View for YWHAZ Gene

Genes around YWHAZ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for YWHAZ Gene

Proteins for YWHAZ Gene

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

    Protein Symbol:
    P63104-1433Z_HUMAN
    Recommended name:
    14-3-3 protein zeta/delta
    Protein Accession:
    P63104
    Secondary Accessions:
    • A8K1N0
    • B7Z465
    • P29213
    • P29312
    • Q32P43
    • Q5XJ08
    • Q6GPI2
    • Q6IN74
    • Q6NUR9
    • Q6P3U9
    • Q86V33

    Protein attributes for YWHAZ Gene

    Size:
    245 amino acids
    Molecular mass:
    27745 Da
    Quaternary structure:
    • Interacts with CDK16 and BSPRY (By similarity). Interacts with WEE1 (C-terminal). Interacts with SAMSN1 (By similarity). Interacts with MLF1 (phosphorylated form); the interaction retains it in the cytoplasm (By similarity). Interacts with Thr-phosphorylated ITGB2 (By similarity). Interacts with BCL2L11 (By similarity). Homodimer. Heterodimerizes with YWHAE. Homo- and heterodimerization is inhibited by phosphorylation on Ser-58. Interacts with FOXO4, NOXA1, SSH1 and ARHGEF2. Interacts with Pseudomonas aeruginosa exoS (unphosphorylated form). Interacts with BAX; the interaction occurs in the cytoplasm. Under stress conditions, MAPK8-mediated phosphorylation releases BAX to mitochondria. Interacts with phosphorylated RAF1; the interaction is inhibited when YWHAZ is phosphorylated on Thr-232 (PubMed:31024343). Interacts with BRAF (PubMed:31024343). Interacts with TP53; the interaction enhances p53 transcriptional activity. The Ser-58 phosphorylated form inhibits this interaction and p53 transcriptional activity. Interacts with ABL1 (phosphorylated form); the interaction retains ABL1 in the cytoplasm. Interacts with PKA-phosphorylated AANAT; the interaction modulates AANAT enzymatic activity by increasing affinity for arylalkylamines and acetyl-CoA and protecting the enzyme from dephosphorylation and proteasomal degradation. It may also prevent thiol-dependent inactivation. Interacts with AKT1; the interaction phosphorylates YWHAZ and modulates dimerization. Interacts with GAB2 and TLK2. Interacts with the 'Thr-369' phosphorylated form of DAPK2 (PubMed:26047703). Interacts with PI4KB, TBC1D22A and TBC1D22B (PubMed:23572552). Interacts with ZFP36L1 (via phosphorylated form); this interaction occurs in a p38 MAPK- and AKT-signaling pathways (By similarity). Interacts with SLITRK1 (PubMed:19640509). Interacts with AK5, LDB1, MADD, MARK3, PDE1A and SMARCB1 (PubMed:16959763).
    SequenceCaution:
    • Sequence=AAH51814.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH73141.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for YWHAZ Gene

    Alternative splice isoforms for YWHAZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YWHAZ Gene

Post-translational modifications for YWHAZ Gene

  • The delta, brain-specific form differs from the zeta form in being phosphorylated (By similarity). Phosphorylation on Ser-184 by MAPK8; promotes dissociation of BAX and translocation of BAX to mitochondria. Phosphorylation on Thr-232; inhibits binding of RAF1. Phosphorylated on Ser-58 by PKA and protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. Phosphorylation on Ser-58 by PKA; disrupts homodimerization and heterodimerization with YHAE and TP53.
  • Ubiquitination at Lys3, Lys9, Lys11, Lys115, Lys138, Lys139, and Lys157
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for YWHAZ Gene

Domains & Families for YWHAZ Gene

Gene Families for YWHAZ Gene

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

Protein Domains for YWHAZ Gene

InterPro:
Blocks:
  • 14-3-3 protein

Suggested Antigen Peptide Sequences for YWHAZ Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase C inhibitor protein 1 (1433Z_HUMAN)
  • cDNA, FLJ79516, highly similar to 14-3-3 protein zeta/delta (B0AZS6_HUMAN)
  • cDNA FLJ50142, highly similar to 14-3-3 protein zeta/delta (Protein kinase Cinhibitor protein 1) (B7Z2E6_HUMAN)
  • Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta polypeptide (D0PNI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P63104

UniProtKB/Swiss-Prot:

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

Function for YWHAZ Gene

Molecular function for YWHAZ Gene

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. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (PubMed:16959763). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity).
GENATLAS Biochemistry:
tyrosine 3-monooxygenase/trytophan 5 monooxygenase activation protein,14-3-3

Phenotypes From GWAS Catalog for YWHAZ Gene

Gene Ontology (GO) - Molecular Function for YWHAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004497 monooxygenase activity IEA --
GO:0005515 protein binding IPI 7935795
GO:0008134 transcription factor binding IPI 16114898
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with YWHAZ: view
genes like me logo Genes that share phenotypes with YWHAZ: view

Animal Models for YWHAZ Gene

MGI Knock Outs for YWHAZ:
  • Ywhaz Ywhaz<tm1b(EUCOMM)Hmgu>

miRNA for YWHAZ Gene

miRTarBase miRNAs that target YWHAZ

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YWHAZ

Clone products for research

  • Addgene plasmids for YWHAZ

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

Localization for YWHAZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for YWHAZ Gene

Cytoplasm. Melanosome. Note=Located to stage I to stage IV melanosomes.

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 YWHAZ gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for YWHAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 16130169
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with YWHAZ: view

Pathways & Interactions for YWHAZ Gene

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

Pathways by source for YWHAZ Gene

2 Sino Biological pathways for YWHAZ Gene
5 GeneGo (Thomson Reuters) pathways for YWHAZ Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell cycle Role of 14-3-3 proteins in cell cycle regulation
  • Development IGF-1 receptor signaling
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
  • Immune response Function of MEF2 in T lymphocytes
18 Qiagen pathways for YWHAZ Gene
  • 14-3-3 and Cell Cycle Regulation
  • 14-3-3 and Regulation of BAD Activity
  • 14-3-3 Induced Apoptosis
  • 14-3-3 Induced Intracellular Signaling
  • Activation of cAMP-Dependent PKA
4 Cell Signaling Technology pathways for YWHAZ Gene
2 GeneTex pathways for YWHAZ Gene

SIGNOR curated interactions for YWHAZ Gene

Activates:
Inactivates:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for YWHAZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0003016 respiratory system process IEA --
GO:0006468 protein phosphorylation IMP 31024343
GO:0006605 protein targeting IEA --
GO:0007165 signal transduction TAS,IMP 31024343
genes like me logo Genes that share ontologies with YWHAZ: view

Drugs & Compounds for YWHAZ Gene

(4) Drugs for YWHAZ Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zolpidem Approved Pharma 128
Phenethyl isothiocyanate Investigational Pharma Target 12
Sepiapterin Investigational Pharma 0
R18 Pharma 14.3.3 proteins Antagonist, Inhibitor of 14.3.3 proteins 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Difopein
396834-58-5

(2) Tocris Compounds for YWHAZ 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 YWHAZ Gene

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

Drug products for research

Transcripts for YWHAZ Gene

mRNA/cDNA for YWHAZ Gene

6 REFSEQ mRNAs :
33 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YWHAZ

Clone products for research

  • Addgene plasmids for YWHAZ

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

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

Relevant External Links for YWHAZ Gene

GeneLoc Exon Structure for
YWHAZ

Expression for YWHAZ Gene

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

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



Protein tissue co-expression partners for YWHAZ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YWHAZ

SOURCE GeneReport for Unigene cluster for YWHAZ Gene:

Hs.492407

Evidence on tissue expression from TISSUES for YWHAZ Gene

  • Nervous system(5)
  • Intestine(4.9)
  • Skin(4.8)
  • Eye(4.8)
  • Blood(4.7)
  • Liver(4.7)
  • Bone marrow(4.6)
  • Lung(3.8)
  • Heart(3.5)
  • Kidney(3.4)
  • Pancreas(3.2)
  • Spleen(3.1)
  • Lymph node(3.1)
  • Muscle(2.9)
  • Stomach(2.9)
  • Thyroid gland(2.8)
  • Adrenal gland(2.7)
  • Gall bladder(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with YWHAZ: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for YWHAZ Gene

Orthologs for YWHAZ Gene

This gene was present in the common ancestor of animals.

Orthologs for YWHAZ Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 100 (a)
OneToMany
-- 30
  • 95 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia YWHAZ 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia YWHAZ 29
  • 99.86 (n)
Dog
(Canis familiaris)
Mammalia YWHAZ 29 30
  • 97.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia YWHAZ 29 30
  • 97.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ywhaz 29 16 30
  • 92.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ywhaz 29
  • 92.93 (n)
Chicken
(Gallus gallus)
Aves YWHAZ 29 30
  • 91.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia YWHAZ 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ywhaz 29
  • 82.45 (n)
MGC75570 29
Zebrafish
(Danio rerio)
Actinopterygii ywhaz 30
  • 78 (a)
ManyToMany
ywhabl 29
  • 73.33 (n)
wufb33b01 29
Fruit Fly
(Drosophila melanogaster)
Insecta 14-3-3&zgr; 31
  • 81 (a)
14-3-3zeta 29 30
  • 70.75 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007643 29
  • 67.62 (n)
Worm
(Caenorhabditis elegans)
Secernentea par-5 30
  • 76 (a)
ManyToMany
ftt-2 29 30
  • 70.95 (n)
ManyToMany
Species where no ortholog for YWHAZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 YWHAZ Gene

ENSEMBL:
Gene Tree for YWHAZ (if available)
TreeFam:
Gene Tree for YWHAZ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YWHAZ: view image
Alliance of Genome Resources:
Additional Orthologs for YWHAZ

Paralogs for YWHAZ Gene

Paralogs for YWHAZ Gene

(9) SIMAP similar genes for YWHAZ Gene using alignment to 11 proteins:

  • 1433Z_HUMAN
  • B0AZS6_HUMAN
  • B7Z2E6_HUMAN
  • D0PNI1_HUMAN
  • E5RGE1_HUMAN
  • E5RIR4_HUMAN
  • E7ESK7_HUMAN
  • E7EVZ2_HUMAN
  • E7EX29_HUMAN
  • E9PD24_HUMAN
  • H0YB80_HUMAN
genes like me logo Genes that share paralogs with YWHAZ: view

Variants for YWHAZ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YWHAZ Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1240139298 Likely Benign: not provided 100,924,965(-) T/G
NM_145690.3(YWHAZ):c.369A>C (p.Gly123=)
SYNONYMOUS
rs1554612377 Conflicting Interpretations: Reclassified - variant of unknown significance; See cases; not specified; not provided 100,920,742(-) G/C
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
MISSENSE
rs1563665760 Uncertain Significance: Reclassified - variant of unknown significance 100,920,742(-) G/GAT
NM_145690.3(YWHAZ):c.687_688dup (p.Ser230fs)
FRAMESHIFT
rs1563691700 Uncertain Significance: Reclassified - variant of unknown significance 100,948,733(-) C/T
NM_145690.3(YWHAZ):c.157G>A (p.Gly53Arg)
MISSENSE
rs754522887 Uncertain Significance: Reclassified - variant of unknown significance 100,924,283(-) G/A
NM_145690.3(YWHAZ):c.434C>T (p.Ser145Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for YWHAZ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3618198 CNV loss 21293372
esv3891451 CNV gain 25118596
nsv1077061 CNV deletion 25765185
nsv508521 CNV deletion 20534489
nsv831409 CNV loss 17160897
nsv951460 CNV deletion 24416366
nsv971341 CNV duplication 23825009
nsv971342 CNV duplication 23825009

Variation tolerance for YWHAZ Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YWHAZ Gene

Human Gene Mutation Database (HGMD)
YWHAZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
YWHAZ
Leiden Open Variation Database (LOVD)
YWHAZ

SNP Genotyping and Copy Number Assays for research

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

Disorders for YWHAZ Gene

MalaCards: The human disease database

(4) MalaCards diseases for YWHAZ Gene - From: COP and GCD

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 11
  • epilepsy, idiopathic generalized, susceptibility to, 11
ophthalmia nodosa
williams-beuren syndrome
  • wbs
disease of mental health
  • mental health
- elite association - COSMIC cancer census association via MalaCards
Search YWHAZ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for YWHAZ

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with YWHAZ: view

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

Publications for YWHAZ Gene

  1. A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. (PMID: 31024343) Popov IK … Chang C (Frontiers in physiology 2019) 3 4
  2. 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
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Examination of association of genes in the serotonin system to autism. (PMID: 19184136) Anderson BM … Haines JL (Neurogenetics 2009) 3 40
  5. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 40

Products for YWHAZ Gene

  • Addgene plasmids for YWHAZ