PRKACG (protein kinase cAMP-activated catalytic subunit gamma) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PRKACG (protein kinase cAMP-activated catalytic subunit gamma) Homo sapiens
Analyze
Symbol: PRKACG
Name: protein kinase cAMP-activated catalytic subunit gamma
RGD ID: 1345258
HGNC Page HGNC:9382
Description: Predicted to enable cAMP-dependent protein kinase activity and protein kinase A regulatory subunit binding activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in ciliary base and nucleoplasm. Predicted to be part of cAMP-dependent protein kinase complex. Predicted to be active in cytosol and nucleus. Implicated in platelet-type bleeding disorder 19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDPLT19; cAMP-dependent protein kinase catalytic subunit gamma; KAPG; PKA C-gamma; PKACg; serine(threonine) protein kinase
RGD Orthologs
Bonobo
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,012,504 - 69,014,113 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl969,012,504 - 69,014,113 (-)Ensemblhg38GRCh38
GRCh37971,627,420 - 71,629,029 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,817,271 - 70,818,828 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34968,857,004 - 68,858,562NCBI
Celera942,222,656 - 42,224,165 (-)NCBICelera
Cytogenetic Map9q21.11NCBI
CHM1_1971,774,636 - 71,776,232 (-)NCBICHM1_1
T2T-CHM13v2.0981,186,045 - 81,187,654 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Localized effects of cAMP mediated by distinct routes of protein kinase A. Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.
8. DARPP-32, Jack of All Trades... Master of Which? Yger M and Girault JA, Front Behav Neurosci. 2011 Sep 8;5:56. doi: 10.3389/fnbeh.2011.00056. eCollection 2011.
Additional References at PubMed
PMID:1339328   PMID:1978848   PMID:2165385   PMID:2342480   PMID:7688126   PMID:7946090   PMID:8830891   PMID:9151826   PMID:9278385   PMID:9540970   PMID:9598317   PMID:9671211  
PMID:9730685   PMID:9837753   PMID:10830164   PMID:11438671   PMID:12198249   PMID:12361948   PMID:12475787   PMID:12477932   PMID:12626323   PMID:12628924   PMID:12721358   PMID:12842892  
PMID:12972513   PMID:15039079   PMID:15489334   PMID:15569269   PMID:15629779   PMID:15632203   PMID:16407073   PMID:17306374   PMID:18385332   PMID:18836454   PMID:19100722   PMID:19197368  
PMID:19383776   PMID:19483721   PMID:19711044   PMID:19895210   PMID:20392842   PMID:20402410   PMID:20433920   PMID:21651489   PMID:21745501   PMID:21873635   PMID:21988832   PMID:22114277  
PMID:23455922   PMID:24189052   PMID:25061177   PMID:26186194   PMID:28514442   PMID:32707033   PMID:32814053   PMID:32971831   PMID:33961781   PMID:35256949   PMID:35563538   PMID:38334954  


Genomics

Comparative Map Data
PRKACG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,012,504 - 69,014,113 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl969,012,504 - 69,014,113 (-)Ensemblhg38GRCh38
GRCh37971,627,420 - 71,629,029 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,817,271 - 70,818,828 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34968,857,004 - 68,858,562NCBI
Celera942,222,656 - 42,224,165 (-)NCBICelera
Cytogenetic Map9q21.11NCBI
CHM1_1971,774,636 - 71,776,232 (-)NCBICHM1_1
T2T-CHM13v2.0981,186,045 - 81,187,654 (-)NCBIT2T-CHM13v2.0
PRKACG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21168,223,026 - 68,226,085 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1968,228,964 - 68,232,023 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0955,775,913 - 55,777,497 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1967,777,789 - 67,779,395 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,778,293 - 67,779,348 (-)EnsemblpanPan2panpan1.1
PRKACG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11280,110,630 - 80,112,367 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1280,111,157 - 80,112,209 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603868,517,323 - 68,518,924 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PRKACG
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 copy number loss See cases [RCV000052904] Chr9:68426796..69606104 [GRCh38]
Chr9:71130848..72221020 [GRCh37]
Chr9:70231532..71410840 [NCBI36]
Chr9:9q21.11-21.12		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002732.3(PRKACG):c.213C>T (p.Ala71=) single nucleotide variant Malignant melanoma [RCV000061951] Chr9:69013880 [GRCh38]
Chr9:71628796 [GRCh37]
Chr9:70818616 [NCBI36]
Chr9:9q21.11		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3 copy number gain See cases [RCV000140627] Chr9:68991449..69164502 [GRCh38]
Chr9:71606365..71779418 [GRCh37]
Chr9:70796185..70969238 [NCBI36]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3 copy number gain See cases [RCV000143167] Chr9:68802194..69342807 [GRCh38]
Chr9:71417110..71957723 [GRCh37]
Chr9:70606930..71147543 [NCBI36]
Chr9:9q21.11-21.12		 uncertain significance
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002732.4(PRKACG):c.222C>G (p.Ile74Met) single nucleotide variant Platelet-type bleeding disorder 19 [RCV000149789] Chr9:69013871 [GRCh38]
Chr9:71628787 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3 copy number gain See cases [RCV000240188] Chr9:71395668..71944494 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71407596-71733655)x3 copy number gain See cases [RCV000446460] Chr9:71407596..71733655 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71599176-71849431)x3 copy number gain See cases [RCV000448375] Chr9:71599176..71849431 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71515614-71991318)x3 copy number gain See cases [RCV000511272] Chr9:71515614..71991318 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3 copy number gain See cases [RCV000511186] Chr9:71395537..71967664 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.700G>C (p.Val234Leu) single nucleotide variant not specified [RCV004317111] Chr9:69013393 [GRCh38]
Chr9:71628309 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele duplication not provided [RCV000677946] Chr9:71606365..71821182 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002732.4(PRKACG):c.*198_*199insGC insertion not provided [RCV001681104] Chr9:69012838..69012839 [GRCh38]
Chr9:71627754..71627755 [GRCh37]
Chr9:9q21.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002732.4(PRKACG):c.723C>T (p.Ala241=) single nucleotide variant not provided [RCV000960046]|not specified [RCV001819025] Chr9:69013370 [GRCh38]
Chr9:71628286 [GRCh37]
Chr9:9q21.11		 benign|likely benign
GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3 copy number gain not provided [RCV000848744] Chr9:71415902..71996013 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3 copy number gain not provided [RCV000846063] Chr9:71458419..71776105 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3 copy number gain not provided [RCV000846790] Chr9:71533382..71987060 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3 copy number gain not provided [RCV000847541] Chr9:71415902..71971195 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3 copy number gain not provided [RCV000847751] Chr9:71221738..71660766 [GRCh37]
Chr9:9q21.11		 uncertain significance
NC_000009.12:g.69014368A>G single nucleotide variant not provided [RCV001595615] Chr9:69014368 [GRCh38]
Chr9:71629284 [GRCh37]
Chr9:9q21.11		 benign
NM_002732.4(PRKACG):c.930G>A (p.Lys310=) single nucleotide variant not provided [RCV000883277] Chr9:69013163 [GRCh38]
Chr9:71628079 [GRCh37]
Chr9:9q21.11		 benign
NM_002732.4(PRKACG):c.*197C>G single nucleotide variant not provided [RCV001657187] Chr9:69012840 [GRCh38]
Chr9:71627756 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.12:g.69014125GGC[10] microsatellite not provided [RCV001618100] Chr9:69014122..69014123 [GRCh38]
Chr9:71629038..71629039 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.12:g.69014201C>T single nucleotide variant not provided [RCV001648956] Chr9:69014201 [GRCh38]
Chr9:71629117 [GRCh37]
Chr9:9q21.11		 benign
NM_002732.4(PRKACG):c.802C>G (p.His268Asp) single nucleotide variant not provided [RCV001670726] Chr9:69013291 [GRCh38]
Chr9:71628207 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_002732.4(PRKACG):c.239T>C (p.Val80Ala) single nucleotide variant PRKACG-related disorder [RCV003941162]|not specified [RCV001820530] Chr9:69013854 [GRCh38]
Chr9:71628770 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1 copy number loss not provided [RCV002473605] Chr9:71496157..71893866 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.812G>T (p.Arg271Leu) single nucleotide variant not specified [RCV004173051] Chr9:69013281 [GRCh38]
Chr9:71628197 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_002732.4(PRKACG):c.17C>A (p.Ala6Asp) single nucleotide variant not specified [RCV004227106] Chr9:69014076 [GRCh38]
Chr9:71628992 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.449A>T (p.Gln150Leu) single nucleotide variant not specified [RCV004227656] Chr9:69013644 [GRCh38]
Chr9:71628560 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.887A>G (p.Lys296Arg) single nucleotide variant not provided [RCV004790463]|not specified [RCV004230401] Chr9:69013206 [GRCh38]
Chr9:71628122 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.706T>A (p.Phe236Ile) single nucleotide variant not specified [RCV004140795] Chr9:69013387 [GRCh38]
Chr9:71628303 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.368A>G (p.Tyr123Cys) single nucleotide variant not specified [RCV004195832] Chr9:69013725 [GRCh38]
Chr9:71628641 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.103G>A (p.Ala35Thr) single nucleotide variant not specified [RCV004235273] Chr9:69013990 [GRCh38]
Chr9:71628906 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.269T>C (p.Leu90Pro) single nucleotide variant not specified [RCV004140381] Chr9:69013824 [GRCh38]
Chr9:71628740 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.713C>G (p.Pro238Arg) single nucleotide variant not specified [RCV004095531] Chr9:69013380 [GRCh38]
Chr9:71628296 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.620C>T (p.Ala207Val) single nucleotide variant not specified [RCV004263273] Chr9:69013473 [GRCh38]
Chr9:71628389 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.149T>A (p.Leu50Gln) single nucleotide variant not specified [RCV004256045] Chr9:69013944 [GRCh38]
Chr9:71628860 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.861C>G (p.Asn287Lys) single nucleotide variant not specified [RCV004273418] Chr9:69013232 [GRCh38]
Chr9:71628148 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.497G>A (p.Arg166His) single nucleotide variant not specified [RCV004273939] Chr9:69013596 [GRCh38]
Chr9:71628512 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.274G>A (p.Glu92Lys) single nucleotide variant not specified [RCV004261386] Chr9:69013819 [GRCh38]
Chr9:71628735 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.304C>T (p.Pro102Ser) single nucleotide variant not specified [RCV004345803] Chr9:69013789 [GRCh38]
Chr9:71628705 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.808C>T (p.Leu270=) single nucleotide variant not provided [RCV003435810] Chr9:69013285 [GRCh38]
Chr9:71628201 [GRCh37]
Chr9:9q21.11		 likely benign
NM_002732.4(PRKACG):c.199G>A (p.Gly67Ser) single nucleotide variant not specified [RCV004515088] Chr9:69013894 [GRCh38]
Chr9:71628810 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.796C>T (p.Leu266Phe) single nucleotide variant not specified [RCV004515091] Chr9:69013297 [GRCh38]
Chr9:71628213 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.240G>A (p.Val80=) single nucleotide variant PRKACG-related disorder [RCV003969799] Chr9:69013853 [GRCh38]
Chr9:71628769 [GRCh37]
Chr9:9q21.11		 likely benign
NM_002732.4(PRKACG):c.414G>C (p.Arg138Ser) single nucleotide variant not specified [RCV004515090] Chr9:69013679 [GRCh38]
Chr9:71628595 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.856A>C (p.Arg286=) single nucleotide variant PRKACG-related disorder [RCV003929559] Chr9:69013237 [GRCh38]
Chr9:71628153 [GRCh37]
Chr9:9q21.11		 likely benign
NM_002732.4(PRKACG):c.-10C>G single nucleotide variant PRKACG-related disorder [RCV003931666] Chr9:69014102 [GRCh38]
Chr9:71629018 [GRCh37]
Chr9:9q21.11		 likely benign
NM_002732.4(PRKACG):c.297C>T (p.Ile99=) single nucleotide variant PRKACG-related disorder [RCV003942007] Chr9:69013796 [GRCh38]
Chr9:71628712 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.11:g.(?_71627953)_(72006720_?)del deletion not provided [RCV004582096] Chr9:71627953..72006720 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_002732.4(PRKACG):c.406G>C (p.Val136Leu) single nucleotide variant not specified [RCV004660176] Chr9:69013687 [GRCh38]
Chr9:71628603 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.461C>A (p.Ala154Asp) single nucleotide variant not specified [RCV004648627] Chr9:69013632 [GRCh38]
Chr9:71628548 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.762dup (p.Arg255fs) duplication not provided [RCV004793168] Chr9:69013330..69013331 [GRCh38]
Chr9:71628246..71628247 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.341A>G (p.Asn114Ser) single nucleotide variant not specified [RCV004846182] Chr9:69013752 [GRCh38]
Chr9:71628668 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.690T>C (p.Tyr230=) single nucleotide variant not provided [RCV005245050] Chr9:69013403 [GRCh38]
Chr9:71628319 [GRCh37]
Chr9:9q21.11		 likely benign
NM_002732.4(PRKACG):c.968G>A (p.Gly323Glu) single nucleotide variant not specified [RCV005265042] Chr9:69013125 [GRCh38]
Chr9:71628041 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.78T>G (p.Asp26Glu) single nucleotide variant not specified [RCV005265047] Chr9:69014015 [GRCh38]
Chr9:71628931 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.182T>C (p.Val61Ala) single nucleotide variant not specified [RCV005265046] Chr9:69013911 [GRCh38]
Chr9:71628827 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.610G>C (p.Glu204Gln) single nucleotide variant not specified [RCV005265044] Chr9:69013483 [GRCh38]
Chr9:71628399 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.721G>A (p.Ala241Thr) single nucleotide variant not specified [RCV005265048] Chr9:69013372 [GRCh38]
Chr9:71628288 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.50A>G (p.Asn17Ser) single nucleotide variant not specified [RCV005265050] Chr9:69014043 [GRCh38]
Chr9:71628959 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.186G>T (p.Arg62Ser) single nucleotide variant not specified [RCV005265043] Chr9:69013907 [GRCh38]
Chr9:71628823 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.385A>C (p.Met129Leu) single nucleotide variant not specified [RCV005265049] Chr9:69013708 [GRCh38]
Chr9:71628624 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.535G>A (p.Gly179Ser) single nucleotide variant not specified [RCV004846184] Chr9:69013558 [GRCh38]
Chr9:71628474 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.449A>G (p.Gln150Arg) single nucleotide variant not specified [RCV000503860] Chr9:69013644 [GRCh38]
Chr9:71628560 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9q21.11(chr9:71612891-71651605)x3 copy number gain not provided [RCV000748455] Chr9:71612891..71651605 [GRCh37]
Chr9:9q21.11		 benign
NM_002732.4(PRKACG):c.971A>G (p.Asp324Gly) single nucleotide variant not specified [RCV004846179] Chr9:69013122 [GRCh38]
Chr9:71628038 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.146C>T (p.Thr49Met) single nucleotide variant not specified [RCV004846180] Chr9:69013947 [GRCh38]
Chr9:71628863 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_002732.4(PRKACG):c.115G>A (p.Ala39Thr) single nucleotide variant not specified [RCV004846181] Chr9:69013978 [GRCh38]
Chr9:71628894 [GRCh37]
Chr9:9q21.11		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:389
Count of miRNA genes:318
Interacting mature miRNAs:338
Transcripts:ENST00000377276
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
RH69128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,627,517 - 71,627,637UniSTSGRCh37
Build 36970,817,337 - 70,817,457RGDNCBI36
Celera942,222,728 - 42,222,848RGD
Cytogenetic Map9q13UniSTS
GeneMap99-GB4 RH Map9233.1UniSTS
NCBI RH Map9653.8UniSTS
G29882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,627,721 - 71,627,925UniSTSGRCh37
Build 36970,817,541 - 70,817,745RGDNCBI36
Celera942,222,932 - 42,223,136RGD
Cytogenetic Map9q13UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
290 711 680 604 1206 374 536 103 441 53 454 1773 1609 997 187 758 382 51

Sequence


Ensembl Acc Id: ENST00000377276   ⟹   ENSP00000366488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,012,504 - 69,014,113 (-)Ensembl
RefSeq Acc Id: NM_002732   ⟹   NP_002723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,012,504 - 69,014,113 (-)NCBI
GRCh37971,627,426 - 71,635,600 (-)NCBI
Build 36970,817,271 - 70,818,828 (-)NCBI Archive
CHM1_1971,774,636 - 71,776,232 (-)NCBI
T2T-CHM13v2.0981,186,045 - 81,187,654 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002723 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39888 (Get FASTA)   NCBI Sequence Viewer  
  ABG25920 (Get FASTA)   NCBI Sequence Viewer  
  CAA04863 (Get FASTA)   NCBI Sequence Viewer  
  EAW62472 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366488
  ENSP00000366488.2
GenBank Protein P22612 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002723   ⟸   NM_002732
- UniProtKB: Q5VZ02 (UniProtKB/Swiss-Prot),   O60850 (UniProtKB/Swiss-Prot),   Q86YI1 (UniProtKB/Swiss-Prot),   P22612 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000366488   ⟸   ENST00000377276
Protein Domains
AGC-kinase C-terminal   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22612-F1-model_v2 AlphaFold P22612 1-351 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9382 AgrOrtholog
COSMIC PRKACG COSMIC
Ensembl Genes ENSG00000165059 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377276 ENTREZGENE
  ENST00000377276.5 UniProtKB/Swiss-Prot
Gene3D-CATH Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000165059 GTEx
HGNC ID HGNC:9382 ENTREZGENE
Human Proteome Map PRKACG Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  STKc_PKA UniProtKB/Swiss-Prot
KEGG Report hsa:5568 UniProtKB/Swiss-Prot
NCBI Gene 5568 ENTREZGENE
OMIM 176893 OMIM
PANTHER CYCLIC NUCLEOTIDE-DEPENDENT PROTEIN KINASE UniProtKB/Swiss-Prot
  PTHR24353:SF137 UniProtKB/Swiss-Prot
Pfam Pkinase UniProtKB/Swiss-Prot
PharmGKB PA33750 PharmGKB
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TK_X UniProtKB/Swiss-Prot
  S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt KAPCG_HUMAN UniProtKB/Swiss-Prot
  O60850 ENTREZGENE
  P22612 ENTREZGENE
  Q5VZ02 ENTREZGENE
  Q86YI1 ENTREZGENE
UniProt Secondary O60850 UniProtKB/Swiss-Prot
  Q5VZ02 UniProtKB/Swiss-Prot
  Q86YI1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PRKACG  protein kinase cAMP-activated catalytic subunit gamma  PRKACG  protein kinase, cAMP-dependent, gamma catalytic subunit  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRKACG  protein kinase, cAMP-dependent, gamma catalytic subunit  PRKACG  protein kinase, cAMP-dependent, catalytic, gamma  Symbol and/or name change 5135510 APPROVED