1. Gene
  2. YWHAG - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Gene

YWHAG - tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Gene

Homo sapiens

Also known as DEE56; EIEE56; PPP1R170; 14-3-3GAMMA

Gene ID: 7532 | Gene type: protein coding

About YWHAG

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:76,326,799-76,358,991 (from NCBI)

This gene has 1 transcript (splice variant), 279 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 260.6), fat (RPKM 131.1) and 22 other tissues.

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 the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]

YWHAG Products(1)

mRNA Protein Name
NM_012479.4 NP_036611.2 2014/3/3 protein gamma

YWHAG Protein Structure

14-3-3

14-3-3: 14-3-3 protein (4 - 240)

  • 0
  • 100
  • 200
  • 247 a.a.
Protein Preferred Names Protein Names

14-3-3 protein gamma

KCIP-1

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 56

DEE56

Epileptic Encephalopathy, Early Infantile, 56

Eiee56

Developmental And Epileptic Encephalopathy, 56

Early Infantile Epileptic Encephalopathy 56

Constipation
Spasticity
Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Hypotonia
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris YWHAG VGNC VGNC:48509
Rattus norvegicus YWHAG RGD RGD:62002
Bos taurus YWHAG VGNC VGNC:37046
Mus musculus YWHAG MGD MGI:108109
Macaca mulatta YWHAG VGNC VGNC:78820
Felis catus YWHAG VGNC VGNC:67155