PPP1R18 (protein phosphatase 1 regulatory subunit 18) - Rat Genome Database

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Gene: PPP1R18 (protein phosphatase 1 regulatory subunit 18) Homo sapiens
Analyze
Symbol: PPP1R18
Name: protein phosphatase 1 regulatory subunit 18
RGD ID: 1319936
HGNC Page HGNC:29413
Description: Predicted to enable actin binding activity and phosphatase binding activity. Predicted to be located in cytoplasm and cytoskeleton.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HKMT1098; KIAA1949; phostensin; protein phosphatase 1 F-actin cytoskeleton targeting subunit; protein phosphatase 1 F-actin cytoskeleton-targeting subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38630,676,389 - 30,688,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl630,676,389 - 30,687,895 (-)EnsemblGRCh38hg38GRCh38
GRCh37630,644,166 - 30,654,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,752,145 - 30,761,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 34630,752,146 - 30,761,804NCBI
Celera632,242,303 - 32,253,809 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,444,133 - 30,455,610 (-)NCBIHuRef
CHM1_1630,646,276 - 30,657,779 (-)NCBICHM1_1
T2T-CHM13v2.0630,540,595 - 30,552,089 (-)NCBIT2T-CHM13v2.0
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
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
avobenzone  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
doxorubicin  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gallic acid  (EXP)
hydrogen peroxide  (ISO)
indometacin  (EXP)
iron dichloride  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
lead diacetate  (EXP)
methidathion  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytoskeleton  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Megacolon  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:11853319   PMID:14702039   PMID:15221005   PMID:15302935   PMID:15489334   PMID:16344560   PMID:17081983   PMID:17374523   PMID:19622346   PMID:19851445   PMID:20360068   PMID:21382349  
PMID:21516116   PMID:21804078   PMID:22321011   PMID:22990118   PMID:23080069   PMID:24366813   PMID:24434620   PMID:25416956   PMID:25468996   PMID:25593058   PMID:25662211   PMID:26186194  
PMID:26496610   PMID:26777405   PMID:27880917   PMID:28330616   PMID:28378594   PMID:28514442   PMID:29158294   PMID:29669786   PMID:30021884   PMID:30196744   PMID:30309841   PMID:30344098  
PMID:30833792   PMID:30948508   PMID:30975701   PMID:30979931   PMID:31240132   PMID:31324722   PMID:31515488   PMID:31527615   PMID:31586073   PMID:32296183   PMID:32513696   PMID:32665550  
PMID:32780723   PMID:32800345   PMID:33111431   PMID:33961781   PMID:34079125   PMID:34591612   PMID:35013218   PMID:35676659   PMID:36042349   PMID:36215168   PMID:36217030   PMID:36526897  
PMID:36574265   PMID:36724073   PMID:36949045   PMID:37232246  


Genomics

Comparative Map Data
PPP1R18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38630,676,389 - 30,688,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl630,676,389 - 30,687,895 (-)EnsemblGRCh38hg38GRCh38
GRCh37630,644,166 - 30,654,984 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36630,752,145 - 30,761,963 (-)NCBINCBI36Build 36hg18NCBI36
Build 34630,752,146 - 30,761,804NCBI
Celera632,242,303 - 32,253,809 (-)NCBICelera
Cytogenetic Map6p21.33NCBI
HuRef630,444,133 - 30,455,610 (-)NCBIHuRef
CHM1_1630,646,276 - 30,657,779 (-)NCBICHM1_1
T2T-CHM13v2.0630,540,595 - 30,552,089 (-)NCBIT2T-CHM13v2.0
Ppp1r18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391736,176,483 - 36,186,488 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1736,176,485 - 36,186,488 (+)EnsemblGRCm39 Ensembl
GRCm381735,865,593 - 35,875,596 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1735,865,593 - 35,875,596 (+)EnsemblGRCm38mm10GRCm38
MGSCv371736,002,540 - 36,012,541 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361735,474,136 - 35,483,649 (+)NCBIMGSCv36mm8
MGSCv361734,955,011 - 34,964,657 (+)NCBIMGSCv36mm8
Celera1739,375,419 - 39,385,004 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1718.72NCBI
Ppp1r18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8202,882,370 - 2,892,329 (-)NCBIGRCr8
mRatBN7.2202,877,567 - 2,887,526 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl202,877,567 - 2,891,802 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx202,929,329 - 2,939,012 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0202,934,300 - 2,943,985 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0202,960,463 - 2,970,126 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0203,372,412 - 3,397,351 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl203,372,413 - 3,397,039 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0205,469,936 - 5,494,453 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4203,013,902 - 3,034,973 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1203,025,916 - 3,035,199 (-)NCBI
Celera20303,632 - 313,449 (-)NCBICelera
Cytogenetic Map20p12NCBI
Ppp1r18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955583673,393 - 680,836 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955583673,634 - 681,439 (-)NCBIChiLan1.0ChiLan1.0
PPP1R18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2545,236,579 - 45,248,063 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1641,199,780 - 41,210,720 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0630,421,134 - 30,431,964 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1631,290,562 - 31,301,566 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl631,290,562 - 31,301,566 (-)Ensemblpanpan1.1panPan2
PPP1R18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112481,276 - 489,093 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12482,106 - 488,686 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12618,596 - 626,971 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.012624,431 - 632,806 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl12624,441 - 632,265 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.112481,780 - 490,151 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.012551,290 - 559,646 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.012619,874 - 628,233 (-)NCBIUU_Cfam_GSD_1.0
Ppp1r18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494633,980,319 - 33,991,274 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936837345,570 - 355,058 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936837345,578 - 356,175 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl723,211,808 - 23,221,384 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1723,211,806 - 23,222,295 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2726,933,736 - 26,944,155 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPP1R18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11741,765,854 - 41,777,697 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1741,766,517 - 41,778,265 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604430,373,563 - 30,385,064 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp1r18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475425,027,792 - 25,034,842 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP1R18
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_133471.4(PPP1R18):c.266G>A (p.Arg89Gln) single nucleotide variant not specified [RCV004321887] Chr6:30685753 [GRCh38]
Chr6:30653530 [GRCh37]
Chr6:6p21.33		 uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_133471.4(PPP1R18):c.1007T>G (p.Leu336Arg) single nucleotide variant not specified [RCV004321033] Chr6:30685012 [GRCh38]
Chr6:30652789 [GRCh37]
Chr6:6p21.33		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 copy number gain not provided [RCV000745592] Chr6:28130359..32108367 [GRCh37]
Chr6:6p22.1-21.32		 uncertain significance
NM_133471.4(PPP1R18):c.1838G>A (p.Arg613Gln) single nucleotide variant not provided [RCV000968083] Chr6:30677273 [GRCh38]
Chr6:30645050 [GRCh37]
Chr6:6p21.33		 benign
NM_133471.4(PPP1R18):c.1433G>A (p.Arg478Gln) single nucleotide variant not specified [RCV004303684] Chr6:30684586 [GRCh38]
Chr6:30652363 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.388C>T (p.Arg130Trp) single nucleotide variant not provided [RCV000907951] Chr6:30685631 [GRCh38]
Chr6:30653408 [GRCh37]
Chr6:6p21.33		 benign
NM_133471.4(PPP1R18):c.1067C>T (p.Pro356Leu) single nucleotide variant not provided [RCV000889598] Chr6:30684952 [GRCh38]
Chr6:30652729 [GRCh37]
Chr6:6p21.33		 benign
NC_000006.11:g.28005012_31683185del deletion Megacolon [RCV001290055] Chr6:28005012..31683185 [GRCh37]
Chr6:6p22.1-21.33		 likely pathogenic
NM_133471.4(PPP1R18):c.1525G>A (p.Ala509Thr) single nucleotide variant not specified [RCV004333779] Chr6:30684494 [GRCh38]
Chr6:30652271 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.809A>G (p.Gln270Arg) single nucleotide variant not specified [RCV004327301] Chr6:30685210 [GRCh38]
Chr6:30652987 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1301C>G (p.Pro434Arg) single nucleotide variant not specified [RCV004310328] Chr6:30684718 [GRCh38]
Chr6:30652495 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.284G>A (p.Arg95Gln) single nucleotide variant not specified [RCV004202212] Chr6:30685735 [GRCh38]
Chr6:30653512 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1396C>T (p.Arg466Cys) single nucleotide variant not specified [RCV004134344] Chr6:30684623 [GRCh38]
Chr6:30652400 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1666G>A (p.Glu556Lys) single nucleotide variant not specified [RCV004175079] Chr6:30679335 [GRCh38]
Chr6:30647112 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1424A>G (p.Asn475Ser) single nucleotide variant not specified [RCV004092190] Chr6:30684595 [GRCh38]
Chr6:30652372 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.89G>A (p.Arg30Gln) single nucleotide variant not specified [RCV004228775] Chr6:30685930 [GRCh38]
Chr6:30653707 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.101C>G (p.Ser34Cys) single nucleotide variant not specified [RCV004078756] Chr6:30685918 [GRCh38]
Chr6:30653695 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1429C>T (p.Arg477Trp) single nucleotide variant not specified [RCV004240957] Chr6:30684590 [GRCh38]
Chr6:30652367 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1594G>A (p.Glu532Lys) single nucleotide variant not specified [RCV004204780] Chr6:30684425 [GRCh38]
Chr6:30652202 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.258C>G (p.His86Gln) single nucleotide variant not specified [RCV004228242] Chr6:30685761 [GRCh38]
Chr6:30653538 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1165C>T (p.Pro389Ser) single nucleotide variant not specified [RCV004210562] Chr6:30684854 [GRCh38]
Chr6:30652631 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1835G>C (p.Arg612Pro) single nucleotide variant not specified [RCV004178895] Chr6:30677276 [GRCh38]
Chr6:30645053 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.310C>T (p.Arg104Trp) single nucleotide variant not specified [RCV004172374] Chr6:30685709 [GRCh38]
Chr6:30653486 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.604C>T (p.Arg202Trp) single nucleotide variant not specified [RCV004149555] Chr6:30685415 [GRCh38]
Chr6:30653192 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.64G>C (p.Val22Leu) single nucleotide variant not specified [RCV004098350] Chr6:30685955 [GRCh38]
Chr6:30653732 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.668T>C (p.Leu223Pro) single nucleotide variant not specified [RCV004089622] Chr6:30685351 [GRCh38]
Chr6:30653128 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1709C>T (p.Pro570Leu) single nucleotide variant not specified [RCV004278449] Chr6:30679292 [GRCh38]
Chr6:30647069 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1835G>A (p.Arg612Gln) single nucleotide variant not specified [RCV004307991] Chr6:30677276 [GRCh38]
Chr6:30645053 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.508C>G (p.Arg170Gly) single nucleotide variant not specified [RCV004323387] Chr6:30685511 [GRCh38]
Chr6:30653288 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.850G>A (p.Val284Ile) single nucleotide variant not specified [RCV004347843] Chr6:30685169 [GRCh38]
Chr6:30652946 [GRCh37]
Chr6:6p21.33		 likely benign
NM_133471.4(PPP1R18):c.1711A>T (p.Ser571Cys) single nucleotide variant not specified [RCV004365293] Chr6:30679290 [GRCh38]
Chr6:30647067 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.557T>G (p.Leu186Arg) single nucleotide variant not specified [RCV004348538] Chr6:30685462 [GRCh38]
Chr6:30653239 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1513C>T (p.Arg505Trp) single nucleotide variant not specified [RCV004359783] Chr6:30684506 [GRCh38]
Chr6:30652283 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1743C>A (p.Asp581Glu) single nucleotide variant not provided [RCV003428779] Chr6:30679258 [GRCh38]
Chr6:30647035 [GRCh37]
Chr6:6p21.33		 likely benign
NM_133471.4(PPP1R18):c.1097T>G (p.Leu366Arg) single nucleotide variant not specified [RCV004509848] Chr6:30684922 [GRCh38]
Chr6:30652699 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.10A>G (p.Ile4Val) single nucleotide variant not specified [RCV004509849] Chr6:30686009 [GRCh38]
Chr6:30653786 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1132G>A (p.Ala378Thr) single nucleotide variant not specified [RCV004509850] Chr6:30684887 [GRCh38]
Chr6:30652664 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1159G>A (p.Gly387Ser) single nucleotide variant not specified [RCV004509851] Chr6:30684860 [GRCh38]
Chr6:30652637 [GRCh37]
Chr6:6p21.33		 likely benign
NM_133471.4(PPP1R18):c.1400G>T (p.Arg467Leu) single nucleotide variant not specified [RCV004509853] Chr6:30684619 [GRCh38]
Chr6:30652396 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.419G>A (p.Arg140Lys) single nucleotide variant not specified [RCV004509855] Chr6:30685600 [GRCh38]
Chr6:30653377 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1216G>C (p.Glu406Gln) single nucleotide variant not specified [RCV004509852] Chr6:30684803 [GRCh38]
Chr6:30652580 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.64G>A (p.Val22Ile) single nucleotide variant not specified [RCV004509857] Chr6:30685955 [GRCh38]
Chr6:30653732 [GRCh37]
Chr6:6p21.33		 uncertain significance
GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3 copy number gain not specified [RCV003986666] Chr6:30629521..30962674 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV004509856] Chr6:30685414 [GRCh38]
Chr6:30653191 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.341C>G (p.Pro114Arg) single nucleotide variant not specified [RCV004664915] Chr6:30685678 [GRCh38]
Chr6:30653455 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.953C>T (p.Pro318Leu) single nucleotide variant not specified [RCV004664916] Chr6:30685066 [GRCh38]
Chr6:30652843 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.1823A>G (p.Asp608Gly) single nucleotide variant not specified [RCV004664917] Chr6:30677288 [GRCh38]
Chr6:30645065 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.227C>T (p.Ala76Val) single nucleotide variant not specified [RCV004664918] Chr6:30685792 [GRCh38]
Chr6:30653569 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.335G>A (p.Arg112Lys) single nucleotide variant not specified [RCV004656235] Chr6:30685684 [GRCh38]
Chr6:30653461 [GRCh37]
Chr6:6p21.33		 uncertain significance
NM_133471.4(PPP1R18):c.214C>T (p.Pro72Ser) single nucleotide variant not specified [RCV004656236] Chr6:30685805 [GRCh38]
Chr6:30653582 [GRCh37]
Chr6:6p21.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1483
Count of miRNA genes:539
Interacting mature miRNAs:587
Transcripts:ENST00000274853, ENST00000399199, ENST00000467662, ENST00000488324
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
406988674GWAS637650_Heosinophil count QTL GWAS637650 (human)2e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)63068254130682542Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
407040708GWAS689684_Hhemoglobin measurement QTL GWAS689684 (human)3e-28hemoglobin measurementhemoglobin measurement (CMO:0000508)63068500430685005Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
407159533GWAS808509_Hstreptococcus seropositivity QTL GWAS808509 (human)2e-08streptococcus seropositivity63068500430685005Human
407130542GWAS779518_Hchronic obstructive pulmonary disease QTL GWAS779518 (human)1e-13streptococcus seropositivity63068500430685005Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
406990892GWAS639868_Hrisky sexual behaviour measurement QTL GWAS639868 (human)2e-08risky sexual behaviour measurement63068500530685006Human
407134452GWAS783428_Hinsomnia QTL GWAS783428 (human)2e-08insomnia63068675430686755Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
407299476GWAS948452_Hlean body mass QTL GWAS948452 (human)4e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)63068500430685005Human
406999473GWAS648449_Hbody mass index QTL GWAS648449 (human)3e-16body mass indexbody mass index (BMI) (CMO:0000105)63068500430685005Human
407087221GWAS736197_Hbreast carcinoma QTL GWAS736197 (human)0.000003breast carcinoma63068224930682250Human
406999476GWAS648452_Hbody mass index QTL GWAS648452 (human)2e-16body mass indexbody mass index (BMI) (CMO:0000105)63068500530685006Human
406947063GWAS596039_Hhemoglobin measurement QTL GWAS596039 (human)3e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)63068500530685006Human
407155005GWAS803981_Hstreptococcus seropositivity QTL GWAS803981 (human)7e-17streptococcus seropositivity63068500430685005Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
RH81008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,644,171 - 30,644,376UniSTSGRCh37
Build 36630,752,150 - 30,752,355RGDNCBI36
Celera632,242,308 - 32,242,513RGD
Cytogenetic Map6p21.3UniSTS
HuRef630,444,138 - 30,444,343UniSTS
D6S1376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,644,656 - 30,644,760UniSTSGRCh37
Build 36630,752,635 - 30,752,739RGDNCBI36
Celera632,242,793 - 32,242,897RGD
Cytogenetic Map6p21.3UniSTS
HuRef630,444,623 - 30,444,727UniSTS
RH46627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,655,898 - 30,656,069UniSTSGRCh37
Build 36630,763,877 - 30,764,048RGDNCBI36
Celera632,254,035 - 32,254,206RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef630,455,836 - 30,456,007UniSTS
GeneMap99-GB4 RH Map6117.9UniSTS
NCBI RH Map6501.8UniSTS
RH46631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,655,915 - 30,656,069UniSTSGRCh37
Build 36630,763,894 - 30,764,048RGDNCBI36
Celera632,254,052 - 32,254,206RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef630,455,853 - 30,456,007UniSTS
GeneMap99-GB4 RH Map6118.61UniSTS
SHGC-34551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37630,655,839 - 30,655,976UniSTSGRCh37
Build 36630,763,818 - 30,763,955RGDNCBI36
Celera632,253,976 - 32,254,113RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef630,455,777 - 30,455,914UniSTS
TNG Radiation Hybrid Map616085.0UniSTS
GeneMap99-GB4 RH Map6118.5UniSTS
Whitehead-RH Map6171.4UniSTS
GeneMap99-G3 RH Map61672.0UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001134870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB075829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL662798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL845353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX908728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR753328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR759873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR788240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA788428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB278980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ988947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY500578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000274853   ⟹   ENSP00000274853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,389 - 30,686,645 (-)Ensembl
Ensembl Acc Id: ENST00000399199   ⟹   ENSP00000382150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,389 - 30,687,216 (-)Ensembl
Ensembl Acc Id: ENST00000467662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,389 - 30,687,158 (-)Ensembl
Ensembl Acc Id: ENST00000488324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,389 - 30,687,193 (-)Ensembl
Ensembl Acc Id: ENST00000615527   ⟹   ENSP00000480270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,391 - 30,687,895 (-)Ensembl
Ensembl Acc Id: ENST00000615892   ⟹   ENSP00000482578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl630,676,389 - 30,684,744 (-)Ensembl
RefSeq Acc Id: NM_001134870   ⟹   NP_001128342
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,676,389 - 30,687,207 (-)NCBI
GRCh37630,644,166 - 30,655,672 (-)RGD
Celera632,242,303 - 32,253,809 (-)RGD
HuRef630,444,133 - 30,455,610 (-)RGD
CHM1_1630,646,276 - 30,657,200 (-)NCBI
T2T-CHM13v2.0630,540,595 - 30,551,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133471   ⟹   NP_597728
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,676,389 - 30,686,645 (-)NCBI
GRCh37630,644,166 - 30,655,672 (-)RGD
Build 36630,752,145 - 30,761,963 (-)NCBI Archive
Celera632,242,303 - 32,253,809 (-)RGD
HuRef630,444,133 - 30,455,610 (-)RGD
CHM1_1630,646,276 - 30,657,779 (-)NCBI
T2T-CHM13v2.0630,540,595 - 30,550,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418257   ⟹   XP_047274213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,676,389 - 30,688,391 (-)NCBI
RefSeq Acc Id: XM_047418258   ⟹   XP_047274214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,676,389 - 30,688,391 (-)NCBI
RefSeq Acc Id: XM_054354401   ⟹   XP_054210376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0630,540,595 - 30,552,089 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001128342 (Get FASTA)   NCBI Sequence Viewer  
  NP_597728 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274213 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186503 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186750 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210376 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06176 (Get FASTA)   NCBI Sequence Viewer  
  AAH66644 (Get FASTA)   NCBI Sequence Viewer  
  ABL61261 (Get FASTA)   NCBI Sequence Viewer  
  AQY77042 (Get FASTA)   NCBI Sequence Viewer  
  AQY77043 (Get FASTA)   NCBI Sequence Viewer  
  AQY77044 (Get FASTA)   NCBI Sequence Viewer  
  AQY77045 (Get FASTA)   NCBI Sequence Viewer  
  AQY77046 (Get FASTA)   NCBI Sequence Viewer  
  AQY77047 (Get FASTA)   NCBI Sequence Viewer  
  AQY77048 (Get FASTA)   NCBI Sequence Viewer  
  AQY77049 (Get FASTA)   NCBI Sequence Viewer  
  AQY77050 (Get FASTA)   NCBI Sequence Viewer  
  BAB85535 (Get FASTA)   NCBI Sequence Viewer  
  BAC86229 (Get FASTA)   NCBI Sequence Viewer  
  BAC86478 (Get FASTA)   NCBI Sequence Viewer  
  BAD38640 (Get FASTA)   NCBI Sequence Viewer  
  BAG54110 (Get FASTA)   NCBI Sequence Viewer  
  CAD38613 (Get FASTA)   NCBI Sequence Viewer  
  CAI46080 (Get FASTA)   NCBI Sequence Viewer  
  EAX03318 (Get FASTA)   NCBI Sequence Viewer  
  EAX03319 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000274853
  ENSP00000274853.3
  ENSP00000373067.4
  ENSP00000382150
  ENSP00000382150.3
  ENSP00000383400.3
  ENSP00000387526.2
  ENSP00000388790.2
  ENSP00000399786.2
  ENSP00000400129.2
  ENSP00000400990.2
  ENSP00000404066.2
  ENSP00000405234.2
  ENSP00000411275.1
  ENSP00000412456.2
  ENSP00000413596.2
  ENSP00000416491.1
  ENSP00000416648.2
  ENSP00000480270.1
  ENSP00000482578.1
GenBank Protein Q6NYC8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_597728   ⟸   NM_133471
- UniProtKB: Q8TF52 (UniProtKB/Swiss-Prot),   Q8NDQ4 (UniProtKB/Swiss-Prot),   Q6ZUJ6 (UniProtKB/Swiss-Prot),   Q6ZTV1 (UniProtKB/Swiss-Prot),   Q68CK8 (UniProtKB/Swiss-Prot),   B7ZCV7 (UniProtKB/Swiss-Prot),   A8MSS7 (UniProtKB/Swiss-Prot),   A6NCB7 (UniProtKB/Swiss-Prot),   A4UBI6 (UniProtKB/Swiss-Prot),   A2AIB8 (UniProtKB/Swiss-Prot),   A2AB01 (UniProtKB/Swiss-Prot),   Q9BRL9 (UniProtKB/Swiss-Prot),   Q6NYC8 (UniProtKB/Swiss-Prot),   A0A024RCJ8 (UniProtKB/TrEMBL),   A0A1U9X8C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128342   ⟸   NM_001134870
- UniProtKB: Q8TF52 (UniProtKB/Swiss-Prot),   Q8NDQ4 (UniProtKB/Swiss-Prot),   Q6ZUJ6 (UniProtKB/Swiss-Prot),   Q6ZTV1 (UniProtKB/Swiss-Prot),   Q68CK8 (UniProtKB/Swiss-Prot),   B7ZCV7 (UniProtKB/Swiss-Prot),   A8MSS7 (UniProtKB/Swiss-Prot),   A6NCB7 (UniProtKB/Swiss-Prot),   A4UBI6 (UniProtKB/Swiss-Prot),   A2AIB8 (UniProtKB/Swiss-Prot),   A2AB01 (UniProtKB/Swiss-Prot),   Q9BRL9 (UniProtKB/Swiss-Prot),   Q6NYC8 (UniProtKB/Swiss-Prot),   A0A024RCJ8 (UniProtKB/TrEMBL),   A0A1U9X8C7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000382150   ⟸   ENST00000399199
Ensembl Acc Id: ENSP00000482578   ⟸   ENST00000615892
Ensembl Acc Id: ENSP00000480270   ⟸   ENST00000615527
Ensembl Acc Id: ENSP00000274853   ⟸   ENST00000274853
RefSeq Acc Id: XP_047274214   ⟸   XM_047418258
- Peptide Label: isoform X2
- UniProtKB: Q8TF52 (UniProtKB/Swiss-Prot),   Q8NDQ4 (UniProtKB/Swiss-Prot),   Q6ZUJ6 (UniProtKB/Swiss-Prot),   Q6ZTV1 (UniProtKB/Swiss-Prot),   Q6NYC8 (UniProtKB/Swiss-Prot),   Q68CK8 (UniProtKB/Swiss-Prot),   B7ZCV7 (UniProtKB/Swiss-Prot),   A8MSS7 (UniProtKB/Swiss-Prot),   A6NCB7 (UniProtKB/Swiss-Prot),   A4UBI6 (UniProtKB/Swiss-Prot),   A2AIB8 (UniProtKB/Swiss-Prot),   A2AB01 (UniProtKB/Swiss-Prot),   Q9BRL9 (UniProtKB/Swiss-Prot),   A0A024RCJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274213   ⟸   XM_047418257
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054210376   ⟸   XM_054354401
- Peptide Label: isoform X1
Protein Domains
Phostensin/Taperin N-terminal   Phostensin/Taperin PP1-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6NYC8-F1-model_v2 AlphaFold Q6NYC8 1-613 view protein structure

Promoters
RGD ID:6872410
Promoter ID:EPDNEW_H9370
Type:initiation region
Name:PPP1R18_2
Description:protein phosphatase 1 regulatory subunit 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9371  EPDNEW_H9372  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,684,759 - 30,684,819EPDNEW
RGD ID:6872412
Promoter ID:EPDNEW_H9371
Type:initiation region
Name:PPP1R18_3
Description:protein phosphatase 1 regulatory subunit 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9370  EPDNEW_H9372  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,686,645 - 30,686,705EPDNEW
RGD ID:6872414
Promoter ID:EPDNEW_H9372
Type:initiation region
Name:PPP1R18_1
Description:protein phosphatase 1 regulatory subunit 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9370  EPDNEW_H9371  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38630,687,207 - 30,687,267EPDNEW
RGD ID:6804416
Promoter ID:HG_KWN:52848
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376424,   ENST00000399199,   OTTHUMT00000076498,   OTTHUMT00000256742,   OTTHUMT00000256743
Position:
Human AssemblyChrPosition (strand)Source
Build 36630,760,176 - 30,764,642 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29413 AgrOrtholog
COSMIC PPP1R18 COSMIC
Ensembl Genes ENSG00000146112 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000206485 UniProtKB/Swiss-Prot
  ENSG00000225060 UniProtKB/Swiss-Prot
  ENSG00000229998 UniProtKB/Swiss-Prot
  ENSG00000230341 UniProtKB/Swiss-Prot
  ENSG00000231247 UniProtKB/TrEMBL
  ENSG00000234000 UniProtKB/Swiss-Prot
  ENSG00000236428 UniProtKB/TrEMBL
Ensembl Transcript ENST00000274853 ENTREZGENE
  ENST00000274853.8 UniProtKB/Swiss-Prot
  ENST00000383573.8 UniProtKB/Swiss-Prot
  ENST00000399199 ENTREZGENE
  ENST00000399199.7 UniProtKB/Swiss-Prot
  ENST00000400554.3 UniProtKB/Swiss-Prot
  ENST00000412189.2 UniProtKB/TrEMBL
  ENST00000435006.5 UniProtKB/TrEMBL
  ENST00000435929.6 UniProtKB/TrEMBL
  ENST00000437121.2 UniProtKB/Swiss-Prot
  ENST00000438815.2 UniProtKB/Swiss-Prot
  ENST00000438945.6 UniProtKB/Swiss-Prot
  ENST00000443517.2 UniProtKB/Swiss-Prot
  ENST00000444206.6 UniProtKB/Swiss-Prot
  ENST00000449705.6 UniProtKB/Swiss-Prot
  ENST00000451544.6 UniProtKB/Swiss-Prot
  ENST00000455026.1 UniProtKB/TrEMBL
  ENST00000455935.2 UniProtKB/Swiss-Prot
  ENST00000615527.1 UniProtKB/Swiss-Prot
  ENST00000615892.4 UniProtKB/Swiss-Prot
GTEx ENSG00000146112 GTEx
  ENSG00000206485 GTEx
  ENSG00000225060 GTEx
  ENSG00000229998 GTEx
  ENSG00000230341 GTEx
  ENSG00000231247 GTEx
  ENSG00000234000 GTEx
  ENSG00000236428 GTEx
HGNC ID HGNC:29413 ENTREZGENE
Human Proteome Map PPP1R18 Human Proteome Map
InterPro Phostensin/Taperin_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phostensin/Taperin_PP1-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP1R18/Tprn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:170954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 170954 ENTREZGENE
OMIM 610990 OMIM
PANTHER PHOSTENSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21685 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phostensin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phostensin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134918172 PharmGKB
UniProt A0A024RCJ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JHC2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JKF1_HUMAN UniProtKB/TrEMBL
  A0A1U9X8C7 ENTREZGENE, UniProtKB/TrEMBL
  A2AB01 ENTREZGENE
  A2AIB8 ENTREZGENE
  A4UBI6 ENTREZGENE
  A6NCB7 ENTREZGENE
  A8MSS7 ENTREZGENE
  B7ZCV7 ENTREZGENE
  PPR18_HUMAN UniProtKB/Swiss-Prot
  Q68CK8 ENTREZGENE
  Q6NYC8 ENTREZGENE
  Q6ZTV1 ENTREZGENE
  Q6ZUJ6 ENTREZGENE
  Q8NDQ4 ENTREZGENE
  Q8TF52 ENTREZGENE
  Q9BRL9 ENTREZGENE
UniProt Secondary A2AB01 UniProtKB/Swiss-Prot
  A2AIB8 UniProtKB/Swiss-Prot
  A4UBI6 UniProtKB/Swiss-Prot
  A6NCB7 UniProtKB/Swiss-Prot
  A8MSS7 UniProtKB/Swiss-Prot
  B7ZCV7 UniProtKB/Swiss-Prot
  Q68CK8 UniProtKB/Swiss-Prot
  Q6ZTV1 UniProtKB/Swiss-Prot
  Q6ZUJ6 UniProtKB/Swiss-Prot
  Q8NDQ4 UniProtKB/Swiss-Prot
  Q8TF52 UniProtKB/Swiss-Prot
  Q9BRL9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP1R18  protein phosphatase 1 regulatory subunit 18  PPP1R18  protein phosphatase 1, regulatory subunit 18  Symbol and/or name change 5135510 APPROVED
2011-10-18 PPP1R18  protein phosphatase 1, regulatory subunit 18  KIAA1949  KIAA1949  Symbol and/or name change 5135510 APPROVED