PPP6C (protein phosphatase 6 catalytic subunit) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PPP6C (protein phosphatase 6 catalytic subunit) Homo sapiens
Analyze
Symbol: PPP6C
Name: protein phosphatase 6 catalytic subunit
RGD ID: 734407
HGNC Page HGNC:9323
Description: Enables protein serine/threonine phosphatase activity. Involved in negative regulation of cGAS/STING signaling pathway. Acts upstream of or within protein dephosphorylation. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ92648; MGC12249; PP6; PP6C; serine/threonine protein phosphatase catalytic subunit; serine/threonine-protein phosphatase 6 catalytic subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PPP6CP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389125,146,573 - 125,189,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9125,146,573 - 125,189,939 (-)EnsemblGRCh38hg38GRCh38
GRCh379127,908,852 - 127,952,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369126,951,228 - 126,991,886 (-)NCBINCBI36Build 36hg18NCBI36
Build 349124,990,962 - 125,031,619NCBI
Celera998,556,786 - 98,600,152 (-)NCBICelera
Cytogenetic Map9q33.3NCBI
HuRef997,520,985 - 97,564,821 (-)NCBIHuRef
CHM1_19128,057,572 - 128,101,275 (-)NCBICHM1_1
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
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. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9013334   PMID:9143513   PMID:9647778   PMID:12477932   PMID:14743216   PMID:15489334   PMID:15761153   PMID:16085932   PMID:16276083   PMID:16344560   PMID:16769727  
PMID:17079228   PMID:17314511   PMID:17384681   PMID:17568194   PMID:18186651   PMID:19198648   PMID:19322201   PMID:19621075   PMID:19626039   PMID:19955178   PMID:20065038   PMID:21187329  
PMID:21415862   PMID:21451261   PMID:21481188   PMID:21873635   PMID:22174317   PMID:22268729   PMID:22715043   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23349634   PMID:23383273  
PMID:23438482   PMID:23443559   PMID:23729733   PMID:23864707   PMID:23956138   PMID:24063632   PMID:24064353   PMID:24255178   PMID:24336958   PMID:24457600   PMID:25187537   PMID:25659154  
PMID:25659891   PMID:25852190   PMID:25921289   PMID:25959826   PMID:25999147   PMID:26138368   PMID:26186194   PMID:26344197   PMID:26462736   PMID:26496610   PMID:26638075   PMID:26673895  
PMID:26687479   PMID:26831064   PMID:26871637   PMID:26972000   PMID:27026398   PMID:27169767   PMID:27244671   PMID:27634302   PMID:27684187   PMID:27880917   PMID:28089446   PMID:28330616  
PMID:28514442   PMID:28524877   PMID:28700943   PMID:28718761   PMID:29053956   PMID:29089450   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29539411   PMID:29568061  
PMID:29764989   PMID:29795372   PMID:29844126   PMID:30463901   PMID:30471916   PMID:30833792   PMID:30884312   PMID:31067453   PMID:31067491   PMID:31073040   PMID:31091453   PMID:31586073  
PMID:31796584   PMID:31980649   PMID:32203420   PMID:32296183   PMID:32474700   PMID:32552912   PMID:32707033   PMID:32753499   PMID:32807901   PMID:32989298   PMID:33306668   PMID:33766124  
PMID:33789117   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34091597   PMID:34314486   PMID:34373451   PMID:34587164   PMID:34672954   PMID:34687317   PMID:35140242   PMID:35241646  
PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35512830   PMID:35563538   PMID:35676246   PMID:35813202   PMID:35831314   PMID:35842423   PMID:35944360   PMID:36071040  
PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36652389   PMID:36736316   PMID:36861887   PMID:36995092   PMID:37167062   PMID:37267103   PMID:37314216  
PMID:37317656   PMID:37536630   PMID:37827155   PMID:38113892   PMID:38745265   PMID:38807188   PMID:38891874   PMID:39098523  


Genomics

Comparative Map Data
PPP6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389125,146,573 - 125,189,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9125,146,573 - 125,189,939 (-)EnsemblGRCh38hg38GRCh38
GRCh379127,908,852 - 127,952,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369126,951,228 - 126,991,886 (-)NCBINCBI36Build 36hg18NCBI36
Build 349124,990,962 - 125,031,619NCBI
Celera998,556,786 - 98,600,152 (-)NCBICelera
Cytogenetic Map9q33.3NCBI
HuRef997,520,985 - 97,564,821 (-)NCBIHuRef
CHM1_19128,057,572 - 128,101,275 (-)NCBICHM1_1
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBIT2T-CHM13v2.0
Ppp6c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39239,084,381 - 39,116,361 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl239,084,366 - 39,116,463 (-)EnsemblGRCm39 Ensembl
GRCm38239,194,369 - 39,226,349 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl239,194,354 - 39,226,451 (-)EnsemblGRCm38mm10GRCm38
MGSCv37239,052,318 - 39,081,858 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36239,018,807 - 39,048,348 (-)NCBIMGSCv36mm8
Celera240,922,991 - 40,952,523 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map224.44NCBI
Ppp6c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8343,339,521 - 43,371,807 (-)NCBIGRCr8
mRatBN7.2322,929,816 - 22,962,123 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl322,931,577 - 22,962,113 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx326,399,878 - 26,430,642 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0334,984,867 - 35,015,633 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0332,797,655 - 32,828,524 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0323,478,123 - 23,510,959 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl323,480,266 - 23,510,959 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0328,702,120 - 28,732,821 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4318,966,289 - 18,997,796 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1318,862,668 - 18,894,168 (-)NCBI
Celera321,363,667 - 21,394,395 (-)NCBICelera
Cytogenetic Map3q12NCBI
Ppp6c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554193,096,240 - 3,134,215 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554193,096,882 - 3,133,590 (+)NCBIChiLan1.0ChiLan1.0
PPP6C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21114,167,709 - 14,210,999 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1914,170,154 - 14,213,902 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0996,267,918 - 96,311,159 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19124,783,166 - 124,825,877 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9124,783,173 - 124,825,877 (-)Ensemblpanpan1.1panPan2
PPP6C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1957,884,035 - 57,921,080 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl543,094,942 - 43,095,395 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl957,884,062 - 57,918,629 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha957,083,817 - 57,121,501 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0958,804,291 - 58,842,060 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl958,804,382 - 58,841,491 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1957,562,943 - 57,601,308 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0957,879,503 - 57,917,826 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0957,970,444 - 58,008,141 (+)NCBIUU_Cfam_GSD_1.0
Ppp6c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947193,515,568 - 193,552,293 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648713,283,931 - 13,321,526 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648713,284,652 - 13,320,936 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP6C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1265,870,477 - 265,898,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11265,872,961 - 265,898,146 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21299,702,674 - 299,727,172 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPP6C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11212,964,706 - 13,007,339 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1212,964,842 - 13,007,351 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660793,096,731 - 3,144,887 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp6c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476010,024,575 - 10,074,329 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476010,025,102 - 10,073,164 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP6C
11 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 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
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 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
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
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 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
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 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 9q33.2-33.3(chr9:123095598-126693843)x1 copy number loss See cases [RCV000141589] Chr9:123095598..126693843 [GRCh38]
Chr9:125857877..129456122 [GRCh37]
Chr9:124897698..128495943 [NCBI36]
Chr9:9q33.2-33.3
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
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 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
NM_002721.5(PPP6C):c.790C>T (p.Arg264Cys) single nucleotide variant Malignant melanoma of skin [RCV000430465]|Squamous cell lung carcinoma [RCV000437241] Chr9:125149801 [GRCh38]
Chr9:127912080 [GRCh37]
Chr9:9q33.3
likely pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
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 9q21.11-34.3(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
GRCh37/hg19 9q33.3(chr9:127782540-128008126)x3 copy number gain not provided [RCV000683097] Chr9:127782540..128008126 [GRCh37]
Chr9:9q33.3
uncertain significance
GRCh37/hg19 9q33.3(chr9:127942240-127950180)x1 copy number loss not provided [RCV000748663] Chr9:127942240..127950180 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9q33.3(chr9:127947926-127950180)x1 copy number loss not provided [RCV000748664] Chr9:127947926..127950180 [GRCh37]
Chr9:9q33.3
benign
GRCh37/hg19 9q33.3(chr9:127948321-127950180)x0 copy number loss not provided [RCV000748665] Chr9:127948321..127950180 [GRCh37]
Chr9:9q33.3
benign
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
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_002721.5(PPP6C):c.609T>C (p.Asp203=) single nucleotide variant not provided [RCV000893754] Chr9:125153593 [GRCh38]
Chr9:127915872 [GRCh37]
Chr9:9q33.3
benign
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 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 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11
pathogenic
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 9q33.2-33.3(chr9:124018736-129995568)x1 copy number loss not provided [RCV002474540] Chr9:124018736..129995568 [GRCh37]
Chr9:9q33.2-33.3
pathogenic
NM_002721.5(PPP6C):c.26A>G (p.Tyr9Cys) single nucleotide variant not specified [RCV004124731] Chr9:125189693 [GRCh38]
Chr9:127951972 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.181C>G (p.Leu61Val) single nucleotide variant not specified [RCV004074422] Chr9:125160897 [GRCh38]
Chr9:127923176 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.21C>G (p.Asp7Glu) single nucleotide variant not specified [RCV004083244] Chr9:125189698 [GRCh38]
Chr9:127951977 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.75+67C>T single nucleotide variant not specified [RCV004169987] Chr9:125189577 [GRCh38]
Chr9:127951856 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.75+65C>T single nucleotide variant not specified [RCV004292114] Chr9:125189579 [GRCh38]
Chr9:127951858 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.15C>A (p.Asp5Glu) single nucleotide variant not specified [RCV004510187] Chr9:125189704 [GRCh38]
Chr9:127951983 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.75+47C>G single nucleotide variant not specified [RCV004656326] Chr9:125189597 [GRCh38]
Chr9:127951876 [GRCh37]
Chr9:9q33.3
uncertain significance
NM_002721.5(PPP6C):c.274A>G (p.Thr92Ala) single nucleotide variant not specified [RCV004656327] Chr9:125158346 [GRCh38]
Chr9:127920625 [GRCh37]
Chr9:9q33.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR373hsa-miR-373-3pOncomiRDBexternal_infoNANA21481188

Predicted Target Of
Summary Value
Count of predictions:3384
Count of miRNA genes:740
Interacting mature miRNAs:819
Transcripts:ENST00000373546, ENST00000373547, ENST00000415905, ENST00000451402, ENST00000456642
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407139492GWAS788468_Hcannabis dependence QTL GWAS788468 (human)2e-10cannabis dependence9125166456125166457Human
407001543GWAS650519_Hpulse pressure measurement QTL GWAS650519 (human)1e-13pulse pressure measurementpulse pressure (CMO:0000292)9125175467125175468Human
407118370GWAS767346_Hsmoking cessation QTL GWAS767346 (human)8e-11smoking cessation9125154978125154979Human
407003973GWAS652949_Hpulse pressure measurement QTL GWAS652949 (human)0.000001pulse pressure measurementpulse pressure (CMO:0000292)9125175467125175468Human
407117059GWAS766035_Hsmoking cessation QTL GWAS766035 (human)5e-16smoking cessation9125154978125154979Human
406963112GWAS612088_Halcohol use disorder measurement QTL GWAS612088 (human)2e-11alcohol use disorder measurement9125167659125167660Human
406921834GWAS570810_Hsystolic blood pressure QTL GWAS570810 (human)7e-10systolic blood pressuresystolic blood pressure (CMO:0000004)9125181059125181060Human
406969757GWAS618733_Hopioid use disorder QTL GWAS618733 (human)5e-12conditioned place preference behavior trait (VT:0010723)9125167659125167660Human
406930255GWAS579231_Hsmoking cessation QTL GWAS579231 (human)2e-14smoking cessation9125160735125160736Human
407002844GWAS651820_Hsystolic blood pressure QTL GWAS651820 (human)0.0000005systolic blood pressuresystolic blood pressure (CMO:0000004)9125175467125175468Human

Markers in Region
STS-N25718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379127,910,472 - 127,910,618UniSTSGRCh37
Build 369126,950,293 - 126,950,439RGDNCBI36
Celera998,558,406 - 98,558,552RGD
Cytogenetic Map9q33.3UniSTS
HuRef997,522,605 - 97,522,751UniSTS
GeneMap99-GB4 RH Map9383.09UniSTS
RH102096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379127,909,098 - 127,909,219UniSTSGRCh37
Build 369126,948,919 - 126,949,040RGDNCBI36
Celera998,557,032 - 98,557,153RGD
Cytogenetic Map9q33.3UniSTS
HuRef997,521,231 - 97,521,352UniSTS
D9S991E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379127,911,606 - 127,911,736UniSTSGRCh37
Build 369126,951,427 - 126,951,557RGDNCBI36
Celera998,559,540 - 98,559,670RGD
Cytogenetic Map9q33.3UniSTS
HuRef997,523,739 - 97,523,869UniSTS
WI-13793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379127,909,534 - 127,909,658UniSTSGRCh37
Build 369126,949,355 - 126,949,479RGDNCBI36
Celera998,557,468 - 98,557,592RGD
Cytogenetic Map9q33.3UniSTS
HuRef997,521,667 - 97,521,791UniSTS
GeneMap99-GB4 RH Map9383.04UniSTS
Whitehead-RH Map9462.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4974 1726 2351 5 623 1951 465 2270 7302 6470 53 3734 851 1743 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001123355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA251321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB250498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB037210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC307002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC369815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373547   ⟹   ENSP00000362648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9125,146,573 - 125,189,803 (-)Ensembl
Ensembl Acc Id: ENST00000415905   ⟹   ENSP00000411744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9125,146,574 - 125,189,939 (-)Ensembl
Ensembl Acc Id: ENST00000451402   ⟹   ENSP00000392147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9125,146,574 - 125,189,939 (-)Ensembl
Ensembl Acc Id: ENST00000456642   ⟹   ENSP00000416287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9125,153,954 - 125,189,783 (-)Ensembl
RefSeq Acc Id: NM_001123355   ⟹   NP_001116827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,189,803 (-)NCBI
GRCh379127,908,852 - 127,952,218 (-)ENTREZGENE
HuRef997,520,985 - 97,564,821 (-)ENTREZGENE
CHM1_19128,057,572 - 128,101,275 (-)NCBI
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001123369   ⟹   NP_001116841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,189,803 (-)NCBI
GRCh379127,908,852 - 127,952,218 (-)ENTREZGENE
HuRef997,520,985 - 97,564,821 (-)ENTREZGENE
CHM1_19128,057,572 - 128,101,275 (-)NCBI
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002721   ⟹   NP_002712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,189,803 (-)NCBI
GRCh379127,908,852 - 127,952,218 (-)ENTREZGENE
Build 369126,951,228 - 126,991,886 (-)NCBI Archive
HuRef997,520,985 - 97,564,821 (-)ENTREZGENE
CHM1_19128,057,572 - 128,101,275 (-)NCBI
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518847   ⟹   XP_011517149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,175,194 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423566   ⟹   XP_047279522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,189,803 (-)NCBI
RefSeq Acc Id: XM_047423567   ⟹   XP_047279523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,172,016 (-)NCBI
RefSeq Acc Id: XM_047423568   ⟹   XP_047279524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389125,146,573 - 125,175,194 (-)NCBI
RefSeq Acc Id: XM_054363239   ⟹   XP_054219214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09137,344,915 - 137,388,140 (-)NCBI
RefSeq Acc Id: XM_054363240   ⟹   XP_054219215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09137,344,915 - 137,373,531 (-)NCBI
RefSeq Acc Id: XM_054363241   ⟹   XP_054219216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09137,344,915 - 137,370,355 (-)NCBI
RefSeq Acc Id: XM_054363242   ⟹   XP_054219217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09137,344,915 - 137,373,531 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001116827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116841 (Get FASTA)   NCBI Sequence Viewer  
  NP_002712 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517149 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279522 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279523 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279524 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219215 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219217 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD45400 (Get FASTA)   NCBI Sequence Viewer  
  AAH06990 (Get FASTA)   NCBI Sequence Viewer  
  AAV38514 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33729 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33730 (Get FASTA)   NCBI Sequence Viewer  
  BAG35253 (Get FASTA)   NCBI Sequence Viewer  
  BAH12005 (Get FASTA)   NCBI Sequence Viewer  
  BAH12178 (Get FASTA)   NCBI Sequence Viewer  
  BAH12945 (Get FASTA)   NCBI Sequence Viewer  
  BAH14898 (Get FASTA)   NCBI Sequence Viewer  
  CAA63549 (Get FASTA)   NCBI Sequence Viewer  
  EAW87611 (Get FASTA)   NCBI Sequence Viewer  
  EAW87612 (Get FASTA)   NCBI Sequence Viewer  
  EAW87613 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362648
  ENSP00000362648.4
  ENSP00000392147
  ENSP00000392147.1
  ENSP00000411744
  ENSP00000411744.1
  ENSP00000416287.1
GenBank Protein O00743 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116841   ⟸   NM_001123369
- Peptide Label: isoform c
- UniProtKB: O00743 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002712   ⟸   NM_002721
- Peptide Label: isoform b
- UniProtKB: Q5U0A2 (UniProtKB/Swiss-Prot),   B7Z5K9 (UniProtKB/Swiss-Prot),   B7Z2W9 (UniProtKB/Swiss-Prot),   B2R5V6 (UniProtKB/Swiss-Prot),   Q9UIC9 (UniProtKB/Swiss-Prot),   O00743 (UniProtKB/Swiss-Prot),   A0A024R861 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116827   ⟸   NM_001123355
- Peptide Label: isoform a
- UniProtKB: O00743 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011517149   ⟸   XM_011518847
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000392147   ⟸   ENST00000451402
Ensembl Acc Id: ENSP00000362648   ⟸   ENST00000373547
Ensembl Acc Id: ENSP00000411744   ⟸   ENST00000415905
Ensembl Acc Id: ENSP00000416287   ⟸   ENST00000456642
RefSeq Acc Id: XP_047279522   ⟸   XM_047423566
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047279524   ⟸   XM_047423568
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279523   ⟸   XM_047423567
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219214   ⟸   XM_054363239
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219217   ⟸   XM_054363242
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219215   ⟸   XM_054363240
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219216   ⟸   XM_054363241
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00743-F1-model_v2 AlphaFold O00743 1-305 view protein structure

Promoters
RGD ID:7216131
Promoter ID:EPDNEW_H13812
Type:initiation region
Name:PPP6C_1
Description:protein phosphatase 6 catalytic subunit
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
GRCh389125,189,786 - 125,189,846EPDNEW
RGD ID:6807983
Promoter ID:HG_KWN:64928
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:NM_001123355,   NM_001123369,   NM_002721,   OTTHUMT00000054061
Position:
Human AssemblyChrPosition (strand)Source
Build 369126,991,751 - 126,992,251 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9323 AgrOrtholog
COSMIC PPP6C COSMIC
Ensembl Genes ENSG00000119414 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373547 ENTREZGENE
  ENST00000373547.9 UniProtKB/Swiss-Prot
  ENST00000415905 ENTREZGENE
  ENST00000415905.5 UniProtKB/Swiss-Prot
  ENST00000451402 ENTREZGENE
  ENST00000451402.5 UniProtKB/Swiss-Prot
  ENST00000456642.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119414 GTEx
HGNC ID HGNC:9323 ENTREZGENE
Human Proteome Map PPP6C Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPA2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr-sp_prot-phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5537 ENTREZGENE
OMIM 612725 OMIM
PANTHER SERINE/THREONINE-PROTEIN PHOSPHATASE 6 CATALYTIC SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE PP2A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33687 PharmGKB
PRINTS STPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SER_THR_PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Ac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R861 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z482_HUMAN UniProtKB/TrEMBL
  B2R5V6 ENTREZGENE
  B7Z2W9 ENTREZGENE
  B7Z5K9 ENTREZGENE
  O00743 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5T1S7_HUMAN UniProtKB/TrEMBL
  Q5U0A2 ENTREZGENE
  Q9UIC9 ENTREZGENE
UniProt Secondary B2R5V6 UniProtKB/Swiss-Prot
  B7Z2W9 UniProtKB/Swiss-Prot
  B7Z5K9 UniProtKB/Swiss-Prot
  Q5U0A2 UniProtKB/Swiss-Prot
  Q9UIC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 PPP6C  protein phosphatase 6 catalytic subunit  PPP6C  protein phosphatase 6, catalytic subunit  Symbol and/or name change 5135510 APPROVED