YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) - Rat Genome Database
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Gene: YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) Homo sapiens
Analyze
Symbol: YWHAG
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
RGD ID: 736065
HGNC Page HGNC
Description: Exhibits identical protein binding activity; insulin-like growth factor receptor binding activity; and protein kinase C binding activity. Involved in regulation of neuron differentiation and regulation of synaptic plasticity. Localizes to extracellular exosome; focal adhesion; and membrane. Implicated in early infantile epileptic encephalopathy 56.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 14-3-3 gamma; 14-3-3 protein gamma; 14-3-3GAMMA; DEE56; EIEE56; KCIP-1; PPP1R170; protein kinase C inhibitor protein 1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl776,326,799 - 76,358,991 (-)EnsemblGRCh38hg38GRCh38
GRCh38776,326,799 - 76,358,991 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37775,956,108 - 75,988,342 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,794,052 - 75,826,252 (-)NCBINCBI36hg18NCBI36
Build 34775,600,767 - 75,632,967NCBI
Celera770,824,607 - 70,856,862 (-)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,042,455 - 71,074,829 (-)NCBIHuRef
CHM1_1775,886,202 - 75,918,463 (-)NCBICHM1_1
CRA_TCAGchr7v2775,289,172 - 75,321,406 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (EXP,ISO)
casticin  (ISO)
chromium(6+)  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
dichlorine  (ISO)
dioxygen  (ISO)
enniatin  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumagillin  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
glutathione  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
mercury dichloride  (ISO)
microcystin RR  (EXP)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
prostaglandin F2alpha  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
Triptolide  (ISO)
tunicamycin  (EXP)
valproic acid  (ISO)

References

Additional References at PubMed
PMID:7790358   PMID:7829101   PMID:7939645   PMID:8037685   PMID:8702721   PMID:8930394   PMID:9524113   PMID:10433554   PMID:10486217   PMID:10559254   PMID:10620507   PMID:10785390  
PMID:10880354   PMID:11076968   PMID:11237865   PMID:11504882   PMID:11531413   PMID:11697890   PMID:11824616   PMID:11886850   PMID:11996670   PMID:12154078   PMID:12176984   PMID:12221128  
PMID:12364343   PMID:12383250   PMID:12433946   PMID:12438239   PMID:12477932   PMID:12482592   PMID:12506198   PMID:12507503   PMID:12665801   PMID:12819209   PMID:12852856   PMID:12853948  
PMID:14505491   PMID:14702039   PMID:14743216   PMID:15057270   PMID:15116094   PMID:15142377   PMID:15159416   PMID:15265780   PMID:15324659   PMID:15324660   PMID:15489334   PMID:15598710  
PMID:15696159   PMID:15708996   PMID:15778465   PMID:15791647   PMID:15883043   PMID:16027165   PMID:16041367   PMID:16045749   PMID:16093354   PMID:16189514   PMID:16223726   PMID:16246723  
PMID:16462731   PMID:16511560   PMID:16511572   PMID:16516142   PMID:16581770   PMID:16672277   PMID:16888623   PMID:16959763   PMID:17085597   PMID:17109079   PMID:17159145   PMID:17284169  
PMID:17353931   PMID:17394238   PMID:17500595   PMID:17611984   PMID:17620599   PMID:17720156   PMID:17979178   PMID:18045992   PMID:18054924   PMID:18160415   PMID:18426801   PMID:18458160  
PMID:18771726   PMID:18779327   PMID:18812399   PMID:18843201   PMID:18951085   PMID:19034380   PMID:19056867   PMID:19172738   PMID:19173300   PMID:19199708   PMID:19322201   PMID:19380743  
PMID:19558434   PMID:19640509   PMID:19738201   PMID:19772960   PMID:19801645   PMID:19860830   PMID:19933256   PMID:19946888   PMID:20012529   PMID:20146355   PMID:20381070   PMID:20388496  
PMID:20451386   PMID:20458337   PMID:20478393   PMID:20508983   PMID:20618440   PMID:20639859   PMID:20642453   PMID:20870266   PMID:20936779   PMID:21044950   PMID:21081666   PMID:21109226  
PMID:21118956   PMID:21145461   PMID:21145499   PMID:21148311   PMID:21152872   PMID:21319273   PMID:21416292   PMID:21420405   PMID:21423176   PMID:21654844   PMID:21706016   PMID:21867493  
PMID:21903422   PMID:21988832   PMID:22190034   PMID:22222486   PMID:22268729   PMID:22304920   PMID:22366688   PMID:22537031   PMID:22556425   PMID:22623428   PMID:22653443   PMID:22658674  
PMID:22658894   PMID:22856523   PMID:22863883   PMID:22952844   PMID:23075850   PMID:23115241   PMID:23151878   PMID:23166591   PMID:23189152   PMID:23383273   PMID:23428871   PMID:23438482  
PMID:23444366   PMID:23500129   PMID:23572552   PMID:23622247   PMID:23695676   PMID:23752268   PMID:23824909   PMID:23851690   PMID:23938468   PMID:23977325   PMID:24055376   PMID:24101513  
PMID:24190973   PMID:24255178   PMID:24269678   PMID:24282540   PMID:24284060   PMID:24366813   PMID:24711643   PMID:24870749   PMID:24947669   PMID:24947832   PMID:24985705   PMID:25036637  
PMID:25047048   PMID:25147182   PMID:25154416   PMID:25224486   PMID:25330109   PMID:25384678   PMID:25416956   PMID:25658096   PMID:25665578   PMID:25737280   PMID:25796446   PMID:25798074  
PMID:25852190   PMID:25900982   PMID:25921289   PMID:25947081   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26217791   PMID:26260846   PMID:26344197   PMID:26427597   PMID:26485645  
PMID:26496610   PMID:26549023   PMID:26618866   PMID:26638075   PMID:26673895   PMID:26760575   PMID:27034005   PMID:27100507   PMID:27102539   PMID:27142060   PMID:27212225   PMID:27248496  
PMID:27253419   PMID:27288018   PMID:27432908   PMID:27545878   PMID:27609421   PMID:27637333   PMID:27684187   PMID:27705803   PMID:27880917   PMID:27894843   PMID:28126486   PMID:28202711  
PMID:28205554   PMID:28330616   PMID:28412242   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28581483   PMID:28675297   PMID:28712289   PMID:28745316   PMID:28777935  
PMID:28835500   PMID:28883622   PMID:29089450   PMID:29128334   PMID:29160310   PMID:29229926   PMID:29253567   PMID:29357390   PMID:29382566   PMID:29395067   PMID:29449217   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29523541   PMID:29568061   PMID:29649512   PMID:29669786   PMID:29678907   PMID:29771442   PMID:29772231   PMID:29777862   PMID:29845934   PMID:29848704  
PMID:30021884   PMID:30196744   PMID:30209976   PMID:30240640   PMID:30570871   PMID:30575818   PMID:30653408   PMID:30690837   PMID:30830684   PMID:30833792   PMID:30890647   PMID:31040226  
PMID:31091453   PMID:31180055   PMID:31180492   PMID:31300519   PMID:31405213   PMID:31519766   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31822558   PMID:31980649  
PMID:32296183   PMID:32814053   PMID:32873725   PMID:32877691  


Genomics

Comparative Map Data
YWHAG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl776,326,799 - 76,358,991 (-)EnsemblGRCh38hg38GRCh38
GRCh38776,326,799 - 76,358,991 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37775,956,108 - 75,988,342 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,794,052 - 75,826,252 (-)NCBINCBI36hg18NCBI36
Build 34775,600,767 - 75,632,967NCBI
Celera770,824,607 - 70,856,862 (-)NCBI
Cytogenetic Map7q11.23NCBI
HuRef771,042,455 - 71,074,829 (-)NCBIHuRef
CHM1_1775,886,202 - 75,918,463 (-)NCBICHM1_1
CRA_TCAGchr7v2775,289,172 - 75,321,406 (-)NCBI
Ywhag
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,937,233 - 135,963,495 (-)NCBIGRCm39mm39
GRCm385135,908,379 - 135,934,641 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,908,409 - 135,934,616 (-)EnsemblGRCm38mm10GRCm38
MGSCv375136,384,249 - 136,410,511 (-)NCBIGRCm37mm9NCBIm37
MGSCv365136,193,036 - 136,219,151 (-)NCBImm8
Celera5132,916,950 - 132,946,032 (-)NCBICelera
Cytogenetic Map5G2NCBI
Ywhag
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01223,789,547 - 23,817,884 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1223,789,638 - 23,817,883 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,788,140 - 25,816,532 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41221,859,804 - 21,888,050 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11221,847,105 - 21,875,295 (+)NCBI
Celera1222,507,939 - 22,536,185 (+)NCBICelera
Cytogenetic Map12q12NCBI
RH 3.4 Map12300.5RGD
Ywhag
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,939,084 - 14,970,248 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,939,130 - 14,970,248 (-)NCBIChiLan1.0ChiLan1.0
YWHAG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1782,773,779 - 82,777,252 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0767,661,589 - 67,693,814 (+)NCBIMhudiblu_PPA_v0panPan3
YWHAG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl67,507,608 - 7,532,409 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.167,504,834 - 7,548,097 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ywhag
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365432,062,137 - 2,096,207 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
YWHAG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.139,994,802 - 10,023,296 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.239,882,655 - 9,911,118 (+)NCBISscrofa10.2Sscrofa10.2susScr3
YWHAG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12810,462,984 - 10,494,500 (-)NCBI
ChlSab1.1 Ensembl2810,462,859 - 10,494,457 (-)Ensembl
Ywhag
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474014,960,105 - 14,995,522 (-)NCBI

Position Markers
RH12457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,956,178 - 75,956,323UniSTSGRCh37
Build 36775,794,114 - 75,794,259RGDNCBI36
Celera770,824,677 - 70,824,822RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,042,525 - 71,042,670UniSTS
CRA_TCAGchr7v2775,289,242 - 75,289,387UniSTS
GeneMap99-GB4 RH Map7432.2UniSTS
NCBI RH Map7912.9UniSTS
D7S2057E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,956,784 - 75,956,945UniSTSGRCh37
Build 36775,794,720 - 75,794,881RGDNCBI36
Celera770,825,283 - 70,825,444RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,043,131 - 71,043,292UniSTS
CRA_TCAGchr7v2775,289,848 - 75,290,009UniSTS
D7S551E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,957,370 - 75,957,454UniSTSGRCh37
Build 36775,795,306 - 75,795,390RGDNCBI36
Celera770,825,869 - 70,825,953RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,043,716 - 71,043,800UniSTS
CRA_TCAGchr7v2775,290,434 - 75,290,518UniSTS
D7S1878E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,957,111 - 75,957,199UniSTSGRCh37
Build 36775,795,047 - 75,795,135RGDNCBI36
Celera770,825,610 - 70,825,698RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,043,457 - 71,043,545UniSTS
CRA_TCAGchr7v2775,290,175 - 75,290,263UniSTS
1138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,956,776 - 75,956,866UniSTSGRCh37
Build 36775,794,712 - 75,794,802RGDNCBI36
Celera770,825,275 - 70,825,365RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,043,123 - 71,043,213UniSTS
CRA_TCAGchr7v2775,289,840 - 75,289,930UniSTS
GeneMap99-GB4 RH Map7430.5UniSTS
NCBI RH Map7922.3UniSTS
A002D37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,956,246 - 75,956,359UniSTSGRCh37
Build 36775,794,182 - 75,794,295RGDNCBI36
Celera770,824,745 - 70,824,858RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,042,593 - 71,042,706UniSTS
CRA_TCAGchr7v2775,289,310 - 75,289,423UniSTS
GeneMap99-GB4 RH Map7430.12UniSTS
NCBI RH Map7922.3UniSTS
GDB:1317208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,983,398 - 75,983,519UniSTSGRCh37
Build 36775,821,334 - 75,821,455RGDNCBI36
Celera770,851,918 - 70,852,039RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,069,885 - 71,070,006UniSTS
CRA_TCAGchr7v2775,316,462 - 75,316,583UniSTS
G19981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,956,246 - 75,956,359UniSTSGRCh37
Build 36775,794,182 - 75,794,295RGDNCBI36
Celera770,824,745 - 70,824,858RGD
Cytogenetic Map7q11.23UniSTS
HuRef771,042,593 - 71,042,706UniSTS
CRA_TCAGchr7v2775,289,310 - 75,289,423UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR132hsa-miR-132-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR141hsa-miR-141-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22537031

Predicted Target Of
Summary Value
Count of predictions:1368
Count of miRNA genes:794
Interacting mature miRNAs:945
Transcripts:ENST00000307630
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 1 1 1 1 40 1 3 1
Medium 2430 2818 1721 620 1811 462 4354 2165 3665 415 1445 1607 171 1204 2788 4
Low 166 1 1 137 1 28 3 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000307630   ⟹   ENSP00000306330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl776,326,799 - 76,358,991 (-)Ensembl
RefSeq Acc Id: NM_012479   ⟹   NP_036611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,326,799 - 76,358,991 (-)NCBI
GRCh37775,956,108 - 75,988,342 (-)ENTREZGENE
Build 36775,794,052 - 75,826,252 (-)NCBI Archive
HuRef771,042,455 - 71,074,829 (-)ENTREZGENE
CHM1_1775,886,202 - 75,918,463 (-)NCBI
CRA_TCAGchr7v2775,289,172 - 75,321,406 (-)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036611   ⟸   NM_012479
- UniProtKB: P61981 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306330   ⟸   ENST00000307630

Promoters
RGD ID:6806415
Promoter ID:HG_KWN:58180
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000253002,   UC003UEZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,826,091 - 75,826,892 (-)MPROMDB
RGD ID:7210865
Promoter ID:EPDNEW_H11178
Type:initiation region
Name:YWHAG_1
Description:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activationprotein gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,358,989 - 76,359,049EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1 copy number loss See cases [RCV000051302] Chr7:75526437..76499472 [GRCh38]
Chr7:75155767..76128789 [GRCh37]
Chr7:74993703..75966725 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1 copy number loss See cases [RCV000051303] Chr7:75567961..76584901 [GRCh38]
Chr7:75197265..76214218 [GRCh37]
Chr7:75035201..76052154 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000664053] Chr7:76330173 [GRCh38]
Chr7:75959490 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1 copy number loss See cases [RCV000135520] Chr7:75432651..76418304 [GRCh38]
Chr7:75061927..76047621 [GRCh37]
Chr7:74899863..75885557 [NCBI36]
Chr7:7q11.23
likely pathogenic
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1 copy number loss See cases [RCV000136113] Chr7:75529854..76611483 [GRCh38]
Chr7:75159180..76240800 [GRCh37]
Chr7:74997116..76078736 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1 copy number loss See cases [RCV000136550] Chr7:75568161..76584760 [GRCh38]
Chr7:75197465..76214077 [GRCh37]
Chr7:75035401..76052013 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 copy number gain See cases [RCV000135929] Chr7:75529854..76626561 [GRCh38]
Chr7:75159180..76255878 [GRCh37]
Chr7:74997116..76093814 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1 copy number loss See cases [RCV000141576] Chr7:76322093..76473764 [GRCh38]
Chr7:75951410..76103081 [GRCh37]
Chr7:75789346..75941017 [NCBI36]
Chr7:7q11.23
benign
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q11.23(chr7:75058408-77082896)x1 copy number loss See cases [RCV000449141] Chr7:75058408..77082896 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000505692] Chr7:76329934 [GRCh38]
Chr7:75959251 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000505695] Chr7:76329927 [GRCh38]
Chr7:75959244 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000505697] Chr7:76358765 [GRCh38]
Chr7:75988082 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000664047] Chr7:76329923 [GRCh38]
Chr7:75959240 [GRCh37]
Chr7:7q11.23
likely pathogenic|conflicting interpretations of pathogenicity
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3 copy number gain not provided [RCV000682872] Chr7:75384846..76279036 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3 copy number gain not provided [RCV000682874] Chr7:75085013..75995207 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1 copy number loss not provided [RCV000682875] Chr7:75082354..76007380 [GRCh37]
Chr7:7q11.23
likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 copy number loss not provided [RCV000746819] Chr7:75588704..80277632 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
GRCh37/hg19 7q11.23(chr7:75931160-76099476)x3 copy number gain not provided [RCV000746821] Chr7:75931160..76099476 [GRCh37]
Chr7:7q11.23
benign
NM_012479.4(YWHAG):c.726C>T (p.Gly242=) single nucleotide variant not provided [RCV000878509] Chr7:76329595 [GRCh38]
Chr7:75958912 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.(?_75914933)_(76029908_?)del deletion not provided [RCV001031816] Chr7:75914933..76029908 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23
pathogenic
NM_012479.4(YWHAG):c.564C>T (p.Asn188=) single nucleotide variant not provided [RCV000945489] Chr7:76329757 [GRCh38]
Chr7:75959074 [GRCh37]
Chr7:7q11.23
benign
NM_012479.4(YWHAG):c.295G>A (p.Asp99Asn) single nucleotide variant not provided [RCV000902447] Chr7:76330026 [GRCh38]
Chr7:75959343 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:75748898-75981782)x3 copy number gain not provided [RCV000849043] Chr7:75748898..75981782 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3 copy number gain not provided [RCV000849303] Chr7:75076890..76007283 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) single nucleotide variant not provided [RCV000816037] Chr7:76330152 [GRCh38]
Chr7:75959469 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3 copy number gain not provided [RCV000849638] Chr7:75233243..76007283 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1 copy number loss not provided [RCV000848509] Chr7:75091878..76117614 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000995916]|not provided [RCV001171618] Chr7:76329926 [GRCh38]
Chr7:75959243 [GRCh37]
Chr7:7q11.23
pathogenic
NM_012479.4(YWHAG):c.609C>T (p.Asp203=) single nucleotide variant not provided [RCV000878347] Chr7:76329712 [GRCh38]
Chr7:75959029 [GRCh37]
Chr7:7q11.23
benign
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) AND DEVELOPMENTAL single nucleotide variant DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 [RCV000987899] Chr7:76329870 [GRCh38]
Chr7:75959187 [GRCh37]
Chr7:7q11.23
pathogenic
NM_012479.4(YWHAG):c.552T>A (p.Tyr184Ter) single nucleotide variant Inborn genetic diseases [RCV001266968] Chr7:76329769 [GRCh38]
Chr7:75959086 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12852 AgrOrtholog
COSMIC YWHAG COSMIC
Ensembl Genes ENSG00000170027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306330 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307630 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.190.20 UniProtKB/Swiss-Prot
GTEx ENSG00000170027 GTEx
HGNC ID HGNC:12852 ENTREZGENE
Human Proteome Map YWHAG Human Proteome Map
InterPro 14-3-3 UniProtKB/Swiss-Prot
  14-3-3_CS UniProtKB/Swiss-Prot
  14-3-3_dom_sf UniProtKB/Swiss-Prot
  14-3-3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:7532 UniProtKB/Swiss-Prot
NCBI Gene 7532 ENTREZGENE
OMIM 605356 OMIM
  617665 OMIM
PANTHER PTHR18860 UniProtKB/Swiss-Prot
Pfam 14-3-3 UniProtKB/Swiss-Prot
PharmGKB PA37441 PharmGKB
PIRSF 14-3-3 UniProtKB/Swiss-Prot
PRINTS 1433ZETA UniProtKB/Swiss-Prot
PROSITE 1433_1 UniProtKB/Swiss-Prot
  1433_2 UniProtKB/Swiss-Prot
SMART 14_3_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48445 UniProtKB/Swiss-Prot
UniGene Hs.744840 ENTREZGENE
UniProt 1433G_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O70457 UniProtKB/Swiss-Prot
  P35214 UniProtKB/Swiss-Prot
  Q6FH52 UniProtKB/Swiss-Prot
  Q9UDP2 UniProtKB/Swiss-Prot
  Q9UN99 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 YWHAG  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma  YWHAG  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma  Symbol and/or name change 5135510 APPROVED
2013-12-10 YWHAG  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma  YWHAG  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide  Symbol and/or name change 5135510 APPROVED