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Gene Gene information from NCBI Gene database.
Entrez ID 7532
Gene name Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Gene symbol YWHAG
Synonyms (NCBI Gene)
14-3-3GAMMADEE56EIEE56PPP1R170
Chromosome 7
Chromosome location 7q11.23
Summary 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 100% identical to t
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1389455796 C>A,T Pathogenic Stop gained, missense variant, coding sequence variant
rs1554616627 T>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs1554616628 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1554616630 G>C Likely-pathogenic Coding sequence variant, missense variant
rs1583981615 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1332 Show/Hide all (1332)
miRTarBase ID miRNA Experiments Reference
MIRT006730 hsa-miR-141-3p Luciferase reporter assayqRT-PCRWestern blot 22537031
MIRT027922 hsa-miR-96-5p Sequencing 20371350
MIRT051462 hsa-let-7e-5p CLASH 23622248
MIRT046644 hsa-miR-222-3p CLASH 23622248
MIRT038650 hsa-miR-132-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59 Show/Hide all (59)
GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0002841 Process Negative regulation of T cell mediated immune response to tumor cell IDA 38377992
GO:0002842 Process Positive regulation of T cell mediated immune response to tumor cell IDA 30487606, 33109719
GO:0002842 Process Positive regulation of T cell mediated immune response to tumor cell IDA 38377992
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605356 12852 ENSG00000170027
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61981
Protein name 14-3-3 protein gamma (Protein kinase C inhibitor protein 1) (KCIP-1) [Cleaved into: 14-3-3 protein gamma, N-terminally processed]
Protein function Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binds to a large number of partners, usually by recognition of a phosphoseri
PDB 2B05 , 3UZD , 4E2E , 4J6S , 4O46 , 5D3E , 6A5S , 6BYJ , 6BYL , 6BZD , 6FEL , 6GKF , 6GKG , 6S9K , 6SAD , 6Y4K , 6Y6B , 6ZBT , 6ZC9 , 7A6R , 7A6Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00244 14-03-2003 10 → 234 14-3-3 protein Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, skeletal muscle, and heart. {ECO:0000269|PubMed:10486217}.
Sequence
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Cell cycle Activation of BAD and translocation to mitochondria
Oocyte meiosis Regulation of PLK1 Activity at G2/M Transition
PI3K-Akt signaling pathway Loss of Nlp from mitotic centrosomes
Hippo signaling pathway Recruitment of mitotic centrosome proteins and complexes
Hepatitis C Loss of proteins required for interphase microtubule organization from the centrosome
Viral carcinogenesis Recruitment of NuMA to mitotic centrosomes
  Anchoring of the basal body to the plasma membrane
  RHO GTPases activate PKNs
  TP53 Regulates Metabolic Genes
  Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
  AURKA Activation by TPX2
  Regulation of localization of FOXO transcription factors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral tonic-clonic seizure Pathogenic rs2115589275 RCV001537638
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 56 Likely pathogenic; Pathogenic rs1803513587, rs2115589045, rs2115589147, rs2536180575, rs1554616628, rs1554616630, rs1583981736, rs1389455796 RCV001328674
RCV001836655
RCV004762264
RCV003335807
RCV000505695
View all (3 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Specific learning disability Pathogenic rs2115589275 RCV001537638
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
YWHAG-related disorder Likely pathogenic; Pathogenic rs1554616628, rs1583981736 RCV003392338
RCV003892747
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 — Disgenet, HPO
Disgenet, HPO
—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS — GWAS catalog 21654844
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY — Disgenet, Orphanet
Disgenet, Orphanet
28777935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 30285260
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (71)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16369491
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30578620 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 23756441 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36673982 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 21867493 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27437776 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only