Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7532
Gene name Gene Name - the full gene name approved by the HGNC.
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
YWHAG
Synonyms (NCBI Gene) Gene synonyms aliases
14-3-3GAMMA, DEE56, EIEE56, PPP1R170
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE56
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez 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 100% identical to t
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006730 hsa-miR-141-3p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0003723 Function RNA binding HDA 22658674
GO:0005080 Function Protein kinase C binding IPI 10433554
GO:0005159 Function Insulin-like growth factor receptor binding IPI 12482592
GO:0005515 Function Protein binding IPI 11237865, 11504882, 11697890, 12364343, 14743216, 15696159, 15778465, 16511560, 16511572, 16516142, 16672277, 16959763, 17085597, 17159145, 18045992, 18458160, 18812399, 19172738, 19640509, 19860830, 19933256, 20451386, 20639859, 20642453, 20936779, 21044950, 21988832, 22653443, 230
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605356 12852 ENSG00000170027
Protein
UniProt ID 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   Reactome
  Cell cycle
Oocyte meiosis
PI3K-Akt signaling pathway
Hippo signaling pathway
Hepatitis C
Viral carcinogenesis
  Activation of BAD and translocation to mitochondria
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Developmental And Epileptic Encephalopathy developmental and epileptic encephalopathy, 56 GenCC
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 36705386
Adenocarcinoma of Lung Associate 35485284
Alzheimer Disease Associate 30578620
Autistic Disorder Associate 23756441
Breast Neoplasms Associate 36673982
Carcinogenesis Associate 21867493
Carcinoma Hepatocellular Associate 27437776
Carcinoma Non Small Cell Lung Stimulate 21867493
Carcinoma Non Small Cell Lung Associate 24870749
Cognition Disorders Associate 40164724