PPP1R9B (protein phosphatase 1 regulatory subunit 9B) - Rat Genome Database

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Gene: PPP1R9B (protein phosphatase 1 regulatory subunit 9B) Homo sapiens
Analyze
Symbol: PPP1R9B
Name: protein phosphatase 1 regulatory subunit 9B
RGD ID: 733635
HGNC Page HGNC
Description: Predicted to enable actin filament binding activity. Involved in cell migration; filopodium assembly; and negative regulation of cell growth. Located in several cellular components, including filopodium; lamellipodium; and ruffle membrane. Biomarker of Alzheimer's disease; hepatocellular carcinoma; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ30345; neurabin II; neurabin-2; neurabin-II; nuerabin 2; PPP1R6; PPP1R9; protein phosphatase 1, regulatory (inhibitor) subunit 9B; protein phosphatase 1, regulatory subunit 9B, spinophilin; SPINO; spinophilin; Spn
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1750,133,737 - 50,150,677 (-)EnsemblGRCh38hg38GRCh38
GRCh381750,133,737 - 50,150,677 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371748,211,101 - 48,228,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,566,100 - 45,582,876 (-)NCBINCBI36hg18NCBI36
Build 341745,567,694 - 45,582,873NCBI
Celera1744,671,218 - 44,687,998 (-)NCBI
Cytogenetic Map17q21.33NCBI
HuRef1743,578,978 - 43,595,756 (-)NCBIHuRef
CHM1_11748,275,419 - 48,292,198 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament depolymerization  (IEA,ISO)
actin filament organization  (IBA,ISO)
aging  (IEA,ISO)
calcium-mediated signaling  (IBA,ISO)
cell migration  (IMP)
cellular response to epidermal growth factor stimulus  (IEA,ISO)
cellular response to estradiol stimulus  (IEA,ISO)
cellular response to morphine  (ISS)
cellular response to organic cyclic compound  (ISO)
cellular response to peptide  (IEA,ISO)
cellular response to xenobiotic stimulus  (IEA,ISO)
cerebral cortex development  (IEA,ISO)
dendrite development  (IEA,ISO)
developmental process involved in reproduction  (IEA,ISO)
filopodium assembly  (IMP)
hippocampus development  (IEA,ISO)
learning  (IEA,ISO)
male mating behavior  (IEA,ISO)
modulation of chemical synaptic transmission  (IEA)
negative regulation of cell growth  (IDA)
negative regulation of phosphoprotein phosphatase activity  (IEA,ISO)
neuron projection development  (IBA)
positive regulation of protein localization  (ISO)
positive regulation of protein localization to actin cortical patch  (IEA,ISO)
positive regulation of protein localization to plasma membrane  (IEA,ISO)
protein localization to actin cytoskeleton  (IEA,ISO)
protein localization to cell periphery  (IEA,ISO)
protein phosphorylation  (IEA)
regulation of cell cycle  (TAS)
regulation of cell growth by extracellular stimulus  (TAS)
regulation of cell population proliferation  (NAS)
regulation of exit from mitosis  (NAS)
regulation of opioid receptor signaling pathway  (ISS)
regulation of protein phosphorylation  (IEA,ISO)
reproductive system development  (IEA,ISO)
response to amino acid  (ISO)
response to amphetamine  (IEA,ISO)
response to clozapine  (IEA,ISO)
response to estradiol  (ISO)
response to immobilization stress  (IEA,ISO)
response to kainic acid  (IEA,ISO)
response to L-phenylalanine derivative  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to organic cyclic compound  (ISO)
response to organonitrogen compound  (ISO)
response to prostaglandin E  (IEA,ISO)
response to steroid hormone  (IEA,ISO)
response to xenobiotic stimulus  (ISO)
RNA splicing  (NAS)

References

Additional References at PubMed
PMID:9653190   PMID:10194355   PMID:10391935   PMID:10514494   PMID:11154706   PMID:11278317   PMID:12230305   PMID:12270929   PMID:12417592   PMID:12477932   PMID:12531897   PMID:14550532  
PMID:14702039   PMID:15016827   PMID:15231748   PMID:15728359   PMID:17178868   PMID:17482550   PMID:19094064   PMID:19130477   PMID:19151759   PMID:19165527   PMID:19380743   PMID:19615732  
PMID:20124353   PMID:20305656   PMID:20360004   PMID:20468064   PMID:21280222   PMID:21873635   PMID:22054094   PMID:22210881   PMID:22284538   PMID:22321011   PMID:22369787   PMID:22515982  
PMID:22922354   PMID:22990118   PMID:23080069   PMID:24114805   PMID:24255178   PMID:24366813   PMID:24457600   PMID:24565202   PMID:25261368   PMID:25281560   PMID:25593058   PMID:25785436  
PMID:25857299   PMID:26186194   PMID:26209609   PMID:26387546   PMID:26496610   PMID:26638075   PMID:27358397   PMID:27377895   PMID:27578752   PMID:27655131   PMID:27880917   PMID:28259365  
PMID:28330616   PMID:28514442   PMID:28611215   PMID:28634551   PMID:28954816   PMID:29117863   PMID:29128334   PMID:29509190   PMID:29568061   PMID:30196744   PMID:30344098   PMID:30413534  
PMID:30425250   PMID:30948508   PMID:31586073   PMID:31796584   PMID:32203420   PMID:32513696   PMID:32780723   PMID:33194618   PMID:33537097   PMID:34079125  


Genomics

Comparative Map Data
PPP1R9B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1750,133,737 - 50,150,677 (-)EnsemblGRCh38hg38GRCh38
GRCh381750,133,737 - 50,150,677 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371748,211,101 - 48,228,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,566,100 - 45,582,876 (-)NCBINCBI36hg18NCBI36
Build 341745,567,694 - 45,582,873NCBI
Celera1744,671,218 - 44,687,998 (-)NCBI
Cytogenetic Map17q21.33NCBI
HuRef1743,578,978 - 43,595,756 (-)NCBIHuRef
CHM1_11748,275,419 - 48,292,198 (-)NCBICHM1_1
Ppp1r9b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,882,038 - 94,897,724 (+)NCBIGRCm39mm39
GRCm39 Ensembl1194,881,861 - 94,897,725 (+)Ensembl
GRCm381194,991,212 - 95,006,898 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,991,035 - 95,006,899 (+)EnsemblGRCm38mm10GRCm38
MGSCv371194,852,526 - 94,868,212 (+)NCBIGRCm37mm9NCBIm37
MGSCv361194,807,302 - 94,822,974 (+)NCBImm8
Celera11104,604,585 - 104,620,251 (+)NCBICelera
Cytogenetic Map11DNCBI
Ppp1r9b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21079,938,055 - 79,954,085 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1079,938,066 - 79,954,083 (+)Ensembl
Rnor_6.01082,800,704 - 82,816,735 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,800,704 - 82,816,731 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,616,223 - 82,632,356 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,674,797 - 83,690,639 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11083,689,166 - 83,705,009 (+)NCBI
Celera1078,712,214 - 78,727,757 (+)NCBICelera
Cytogenetic Map10q26NCBI
Ppp1r9b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,516,548 - 11,530,830 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,516,548 - 11,530,263 (+)NCBIChiLan1.0ChiLan1.0
PPP1R9B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11749,098,089 - 49,129,659 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,098,089 - 49,126,932 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01744,224,007 - 44,240,906 (-)NCBIMhudiblu_PPA_v0panPan3
PPP1R9B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,135,982 - 26,152,303 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,137,464 - 26,151,810 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,529,124 - 25,544,951 (-)NCBI
ROS_Cfam_1.0926,930,469 - 26,946,307 (-)NCBI
UMICH_Zoey_3.1925,698,261 - 25,714,094 (-)NCBI
UNSW_CanFamBas_1.0925,956,940 - 25,972,777 (-)NCBI
UU_Cfam_GSD_1.0926,086,858 - 26,102,695 (-)NCBI
Ppp1r9b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,560,948 - 25,577,086 (-)NCBI
SpeTri2.0NW_00493649011,497,389 - 11,514,191 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R9B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,319,124 - 26,336,562 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,319,123 - 26,337,089 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,358,245 - 26,375,863 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPP1R9B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11643,188,400 - 43,205,621 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1643,188,022 - 43,205,680 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607713,904,402 - 13,921,606 (+)NCBIVero_WHO_p1.0
Ppp1r9b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247956,124,273 - 6,137,776 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D17S588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,215,496 - 48,215,654UniSTSGRCh37
Build 361745,570,495 - 45,570,653RGDNCBI36
Celera1744,675,612 - 44,675,770RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,583,372 - 43,583,528UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1823
Count of miRNA genes:797
Interacting mature miRNAs:962
Transcripts:ENST00000316878, ENST00000501501, ENST00000513579
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2425 2815 1503 398 1931 244 3735 1442 3697 398 1445 1604 167 1203 2174 3
Low 7 169 220 224 14 220 620 751 11 20 3 4 4 1 614 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide ABBA01041227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI056581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ401189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF109903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF448737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM991997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB052174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000513579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,139,460 - 50,145,152 (-)Ensembl
RefSeq Acc Id: ENST00000612501   ⟹   ENSP00000478767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1750,133,737 - 50,150,677 (-)Ensembl
RefSeq Acc Id: NM_032595   ⟹   NP_115984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,133,737 - 50,150,677 (-)NCBI
GRCh371748,211,101 - 48,227,877 (-)ENTREZGENE
Build 361745,566,100 - 45,582,876 (-)NCBI Archive
HuRef1743,578,978 - 43,595,756 (-)ENTREZGENE
CHM1_11748,275,417 - 48,292,199 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115984   ⟸   NM_032595
- UniProtKB: Q96SB3 (UniProtKB/Swiss-Prot),   D3DTX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478767   ⟸   ENST00000612501
Protein Domains
PDZ

Promoters
RGD ID:6794442
Promoter ID:HG_KWN:26554
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000316878,   NM_032595,   UC002IQH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,581,521 - 45,583,727 (-)MPROMDB
RGD ID:7235629
Promoter ID:EPDNEW_H23560
Type:initiation region
Name:PPP1R9B_1
Description:protein phosphatase 1 regulatory subunit 9B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,150,677 - 50,150,737EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22
pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22
pathogenic
NM_032595.4(PPP1R9B):c.1644C>T (p.Leu548=) single nucleotide variant Malignant melanoma [RCV000071553] Chr17:50141355 [GRCh38]
Chr17:48218720 [GRCh37]
Chr17:45573719 [NCBI36]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1590C>T (p.Thr530=) single nucleotide variant not provided [RCV000084775] Chr17:50143633 [GRCh38]
Chr17:48220998 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1509C>T (p.Ser503=) single nucleotide variant not provided [RCV000084777] Chr17:50143714 [GRCh38]
Chr17:48221079 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1137A>G (p.Val379=) single nucleotide variant not provided [RCV000084779] Chr17:50149377 [GRCh38]
Chr17:48226742 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.2358G>A (p.Ser786=) single nucleotide variant not provided [RCV000084771] Chr17:50135595 [GRCh38]
Chr17:48212960 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.2238G>A (p.Ala746=) single nucleotide variant not provided [RCV000084772] Chr17:50136033 [GRCh38]
Chr17:48213398 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.2199G>T (p.Leu733=) single nucleotide variant not provided [RCV000084773] Chr17:50136072 [GRCh38]
Chr17:48213437 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1916C>T (p.Pro639Leu) single nucleotide variant not provided [RCV000084774] Chr17:50139532 [GRCh38]
Chr17:48216897 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1582G>A (p.Val528Ile) single nucleotide variant not provided [RCV000084776] Chr17:50143641 [GRCh38]
Chr17:48221006 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1332C>T (p.Ala444=) single nucleotide variant not provided [RCV000084778] Chr17:50149182 [GRCh38]
Chr17:48226547 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1131G>A (p.Glu377=) single nucleotide variant not provided [RCV000084780] Chr17:50149383 [GRCh38]
Chr17:48226748 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1112C>T (p.Ala371Val) single nucleotide variant not provided [RCV000084781] Chr17:50149402 [GRCh38]
Chr17:48226767 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1092G>A (p.Arg364=) single nucleotide variant not provided [RCV000084782] Chr17:50149422 [GRCh38]
Chr17:48226787 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1077A>G (p.Val359=) single nucleotide variant not provided [RCV000084783] Chr17:50149437 [GRCh38]
Chr17:48226802 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1074G>C (p.Ala358=) single nucleotide variant not provided [RCV000084784] Chr17:50149440 [GRCh38]
Chr17:48226805 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1071G>A (p.Ala357=) single nucleotide variant not provided [RCV000084785] Chr17:50149443 [GRCh38]
Chr17:48226808 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1059G>C (p.Glu353Asp) single nucleotide variant not provided [RCV000084786] Chr17:50149455 [GRCh38]
Chr17:48226820 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.1047A>G (p.Gln349=) single nucleotide variant not provided [RCV000084787] Chr17:50149467 [GRCh38]
Chr17:48226832 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.815G>C (p.Cys272Ser) single nucleotide variant not provided [RCV000084788] Chr17:50149699 [GRCh38]
Chr17:48227064 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.777C>G (p.Pro259=) single nucleotide variant not provided [RCV000084789] Chr17:50149737 [GRCh38]
Chr17:48227102 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.729G>A (p.Leu243=) single nucleotide variant not provided [RCV000084790] Chr17:50149785 [GRCh38]
Chr17:48227150 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.631C>T (p.Leu211Phe) single nucleotide variant not provided [RCV000084791] Chr17:50149883 [GRCh38]
Chr17:48227248 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.579C>G (p.Thr193=) single nucleotide variant not provided [RCV000084792] Chr17:50149935 [GRCh38]
Chr17:48227300 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.513G>A (p.Leu171=) single nucleotide variant not provided [RCV000084793] Chr17:50150001 [GRCh38]
Chr17:48227366 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.506G>A (p.Arg169Gln) single nucleotide variant not provided [RCV000084794] Chr17:50150008 [GRCh38]
Chr17:48227373 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.462C>T (p.Ser154=) single nucleotide variant not provided [RCV000084795] Chr17:50150052 [GRCh38]
Chr17:48227413 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.416A>C (p.His139Pro) single nucleotide variant not provided [RCV000084796] Chr17:50150098 [GRCh38]
Chr17:48227459 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.336G>A (p.Lys112=) single nucleotide variant not provided [RCV000084797] Chr17:50150178 [GRCh38]
Chr17:48227539 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.253C>T (p.Arg85Trp) single nucleotide variant not provided [RCV000084798] Chr17:50150261 [GRCh38]
Chr17:48227622 [GRCh37]
Chr17:17q21.33
not provided
NM_032595.5(PPP1R9B):c.198G>C (p.Thr66=) single nucleotide variant not provided [RCV000084799] Chr17:50150316 [GRCh38]
Chr17:48227677 [GRCh37]
Chr17:17q21.33
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1 copy number loss See cases [RCV000139901] Chr17:49361155..50269440 [GRCh38]
Chr17:47438517..48346801 [GRCh37]
Chr17:44793516..45701800 [NCBI36]
Chr17:17q21.33
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
Single allele deletion Osteogenesis imperfecta type I [RCV000490683] Chr17:48129408..48279727 [GRCh37]
Chr17:17q21.33
pathogenic|likely pathogenic|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22
likely pathogenic
NM_032595.5(PPP1R9B):c.2380A>C (p.Met794Leu) single nucleotide variant not provided [RCV000658786] Chr17:50135573 [GRCh38]
Chr17:48212938 [GRCh37]
Chr17:17q21.33
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_032595.5(PPP1R9B):c.493_494= (p.Ala165=) variation not provided [RCV000947837] Chr17:50150020..50150021 [GRCh38]
Chr17:17q21.33
benign
NM_032595.5(PPP1R9B):c.1644C>A (p.Leu548=) single nucleotide variant not provided [RCV000971065] Chr17:50141355 [GRCh38]
Chr17:48218720 [GRCh37]
Chr17:17q21.33
benign
NM_032595.5(PPP1R9B):c.1625+7A>G single nucleotide variant not provided [RCV000888209] Chr17:50143591 [GRCh38]
Chr17:48220956 [GRCh37]
Chr17:17q21.33
benign
NM_032595.5(PPP1R9B):c.660G>A (p.Ser220=) single nucleotide variant not provided [RCV000971066] Chr17:50149854 [GRCh38]
Chr17:48227219 [GRCh37]
Chr17:17q21.33
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9298 AgrOrtholog
COSMIC PPP1R9B COSMIC
Ensembl Genes ENSG00000108819 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000478767 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000612501 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108819 GTEx
HGNC ID HGNC:9298 ENTREZGENE
Human Proteome Map PPP1R9B Human Proteome Map
InterPro NEB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurabin-1/2_PDZ UniProtKB/Swiss-Prot
  Neurabin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84687 UniProtKB/Swiss-Prot
NCBI Gene 84687 ENTREZGENE
OMIM 603325 OMIM
PANTHER PTHR16154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16154:SF24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_5 UniProtKB/Swiss-Prot
PharmGKB PA33662 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DTX6 ENTREZGENE
  NEB2_HUMAN UniProtKB/Swiss-Prot
  Q96B17_HUMAN UniProtKB/TrEMBL
  Q96HI8_HUMAN UniProtKB/TrEMBL
  Q96SB3 ENTREZGENE
UniProt Secondary D3DTX6 UniProtKB/Swiss-Prot
  Q8TCR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP1R9B  protein phosphatase 1 regulatory subunit 9B    protein phosphatase 1, regulatory subunit 9B  Symbol and/or name change 5135510 APPROVED
2011-10-11 PPP1R9B  protein phosphatase 1, regulatory subunit 9B  PPP1R9B  protein phosphatase 1, regulatory (inhibitor) subunit 9B  Symbol and/or name change 5135510 APPROVED
2011-08-17 PPP1R9B  protein phosphatase 1, regulatory (inhibitor) subunit 9B  PPP1R9B  protein phosphatase 1, regulatory (inhibitor) subunit 9B  Symbol and/or name change 5135510 APPROVED