Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript va... See more...
Aliases for PPP1R3B Gene
Aliases for PPP1R3B Gene
External Ids for PPP1R3B Gene
- HGNC: 14942
- Entrez Gene: 79660
- Ensembl: ENSG00000173281
- OMIM: 610541
- UniProtKB: Q86XI6
Previous GeneCards Identifiers for PPP1R3B Gene
- GC08M008912
- GC08M009032
- GC08M007918
- GC08M008993
Summaries for PPP1R3B Gene
-
This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
GeneCards Summary for PPP1R3B Gene
PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B) is a Protein Coding gene. Diseases associated with PPP1R3B include Maturity-Onset Diabetes Of The Young and Bjornstad Syndrome. Among its related pathways are Activation of cAMP-Dependent PKA and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein phosphatase regulator activity. An important paralog of this gene is PPP1R3C.
UniProtKB/Swiss-Prot Summary for PPP1R3B Gene
-
Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).
Additional gene information for PPP1R3B Gene
- HGNC(14942)
- Entrez Gene(79660)
- Ensembl(ENSG00000173281)
- OMIM(610541)
- UniProtKB(Q86XI6)
- Open Targets Platform(ENSG00000173281)
- Monarch Initiative
- Search for PPP1R3B at DataMed
- Search for PPP1R3B at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R3B Gene
Genomics for PPP1R3B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPP1R3B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPP1R3B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R3B
- Top Transcription factor binding sites by QIAGEN in the PPP1R3B gene promoter:
-
- AML1a
- MyoD
- RSRFC4
- Sox9
- USF-1
- USF-1:USF-2
- USF1
- USF2
- XBP-1
Genomic Locations for PPP1R3B Gene
Genomic Locations for PPP1R3B Gene
- chr8:9,136,255-9,151,586
- (GRCh38/hg38)
- Size:
- 15,332 bases
- Orientation:
- Minus strand
- chr8:8,993,764-9,009,152
- (GRCh37/hg19)
- Size:
- 15,389 bases
- Orientation:
- Minus strand
Genomic View for PPP1R3B Gene
Genes around PPP1R3B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by HGNC
- 8p23.1 by Entrez Gene
- 8p23.1 by Ensembl
PPP1R3B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPP1R3B Gene
Proteins for PPP1R3B Gene
-
Protein details for PPP1R3B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86XI6-PPR3B_HUMAN
- Recommended name:
- Protein phosphatase 1 regulatory subunit 3B
- Protein Accession:
- Q86XI6
- B3KTV3
- Q9H812
Protein attributes for PPP1R3B Gene
- Size:
- 285 amino acids
- Molecular mass:
- 32695 Da
- Quaternary structure:
-
- Interacts with glycogen, PPP1CC catalytic subunit of PP1 and PYGL. Associates with glycogen particles. Forms complexes with debranching enzyme, glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity (By similarity).
Post-translational modifications for PPP1R3B Gene
Other Protein References for PPP1R3B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-PPP1R3B monoclonal antibody
- Novus Biologicals Antibodies for PPP1R3B
-
Abcam antibodies for PPP1R3B
- Invitrogen Antibodies for PPP1R3B (AFLGC-PPP1R3B)
-
Biorbyt antibodies for PPP1R3B
Protein Products
-
OriGene Purified Proteins for PPP1R3B
- Search Origene for MassSpec and Protein Over-expression Lysates for PPP1R3B
- Origene Custom Protein Services for PPP1R3B
- ProSpec Recombinant Proteins for PPP1R3B
-
Abcam proteins for PPP1R3B
No data available for DME Specific Peptides for PPP1R3B Gene
Domains & Families for PPP1R3B Gene
Gene Families for PPP1R3B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PPP1R3B Gene
- InterPro:
- Blocks:
-
- Putative phosphatase regulatory subunit
- ProtoNet:
Suggested Antigen Peptide Sequences for PPP1R3B Gene
- GenScript: Design optimal peptide antigens:
-
- Protein phosphatase 1 subunit GL (PPR3B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q86XI6UniProtKB/Swiss-Prot:
PPR3B_HUMAN :- The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to PYGL.
- Domain:
-
- The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to PYGL.
Function for PPP1R3B Gene
Molecular function for PPP1R3B Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity).
Phenotypes From GWAS Catalog for PPP1R3B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 15231748 |
| GO:0008157 | protein phosphatase 1 binding | IBA | 21873635 |
| GO:0019888 | protein phosphatase regulator activity | IEA | -- |
| GO:0019899 | enzyme binding | IEA | -- |
Phenotypes for PPP1R3B Gene
- MGI mutant phenotypes for PPP1R3B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPP1R3B:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Increased IL-8 secretion
- Decreased viability after Maraba virus infection
- Increased hepcidin::fluc mRNA expression
- Upregulation of NF-kappaB pathway after LMP1 stimulation
- Increased epidermal growth factor (EGF) endocytosis, increased transferrin (TF) endocytosis
Animal Model Products
-
Taconic Biosciences Mouse Models for PPP1R3B
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPP1R3B - Select products 50% OFF >
- * PPP1R3B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPP1R3B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPP1R3B
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP1R3B
miRNA for PPP1R3B Gene
- miRTarBase miRNAs that target PPP1R3B
-
- hsa-miR-335-5p (MIRT017328)
- hsa-miR-124-3p (MIRT022373)
- hsa-miR-20a-5p (MIRT439915)
- hsa-miR-106b-5p (MIRT439917)
- hsa-miR-651-5p (MIRT530475)
- hsa-miR-4266 (MIRT530476)
- hsa-miR-4328 (MIRT530477)
- hsa-miR-4433b-3p (MIRT530478)
- hsa-miR-575 (MIRT530479)
- hsa-miR-4676-5p (MIRT530480)
- hsa-miR-6507-5p (MIRT530481)
- hsa-miR-4762-3p (MIRT555331)
- hsa-miR-1261 (MIRT555332)
- hsa-miR-4791 (MIRT555333)
- hsa-miR-4784 (MIRT555334)
- hsa-miR-3201 (MIRT555335)
- hsa-miR-3150b-3p (MIRT555336)
- hsa-miR-493-3p (MIRT555337)
- hsa-miR-151b (MIRT555338)
- hsa-miR-151a-5p (MIRT555339)
- hsa-miR-611 (MIRT555340)
- hsa-miR-3131 (MIRT555341)
- hsa-miR-1250-3p (MIRT555342)
- hsa-miR-7853-5p (MIRT555343)
- hsa-miR-105-5p (MIRT555344)
- hsa-miR-6888-5p (MIRT555345)
- hsa-miR-551b-5p (MIRT555346)
- mmu-miR-669d-5p (MIRT581680)
- mmu-miR-20a-5p (MIRT593557)
- mmu-miR-93-5p (MIRT593558)
- mmu-miR-106b-5p (MIRT593559)
- mmu-miR-17-5p (MIRT593560)
- mmu-miR-20b-5p (MIRT593561)
- mmu-miR-106a-5p (MIRT593562)
- mmu-miR-291b-3p (MIRT593563)
- hsa-miR-6848-3p (MIRT678577)
- hsa-miR-1228-3p (MIRT678578)
- hsa-miR-6843-3p (MIRT678579)
- hsa-miR-640 (MIRT678580)
- hsa-miR-378a-5p (MIRT678581)
- hsa-miR-1193 (MIRT678582)
- hsa-miR-6821-3p (MIRT678583)
- hsa-miR-6790-3p (MIRT678584)
- hsa-miR-7107-5p (MIRT678585)
- hsa-miR-1234-3p (MIRT678586)
- hsa-miR-2392 (MIRT678587)
- hsa-miR-4662a-5p (MIRT679343)
- hsa-miR-1976 (MIRT679344)
- hsa-miR-3653-5p (MIRT679345)
- hsa-miR-6747-3p (MIRT679346)
- hsa-miR-6858-3p (MIRT679347)
- hsa-miR-519d-3p (MIRT726881)
- hsa-miR-20b-5p (MIRT726882)
- hsa-miR-93-5p (MIRT726883)
- hsa-miR-17-5p (MIRT726884)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPP1R3B
- Browse OriGene Inhibitory RNA Products For PPP1R3B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3B
Clone Products
- Applied Biological Materials (abm): Clones for PPP1R3B - Select products 50% OFF >
- * PPP1R3B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PPP1R3B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP1R3B
Cell Line Products
-
Horizon Cell Lines for PPP1R3B
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R3B Gene
Localization for PPP1R3B Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000164 | protein phosphatase type 1 complex | IEA,IBA | 21873635 |
| GO:0042587 | glycogen granule | IEA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPP1R3B Gene
Pathways & Interactions for PPP1R3B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
| 2 | Beta-Adrenergic Signaling |
Beta-Adrenergic Signaling
.37
Erythropoietin Pathway
.37
|
CDK5 Pathway
.37
Insulin Receptor Pathway
.37
|
| 3 | Insulin resistance | ||
| 4 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
| 5 | mTOR Pathway |
.32
|
|
Pathways by source for PPP1R3B Gene
2 KEGG pathways for PPP1R3B Gene
1 Tocris pathway for PPP1R3B Gene
14 Qiagen pathways for PPP1R3B Gene
- Activation of cAMP-Dependent PKA
- Activation of PKA through GPCR
- Beta-Adrenergic Signaling
- Breast Cancer Regulation by Stathmin1
- cAMP Pathway
Interacting Proteins for PPP1R3B Gene
Selected Interacting proteins:
Q86XI6-PPR3B_HUMAN
ENSP00000308318
for PPP1R3B Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PPP1R3B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0005977 | glycogen metabolic process | IEA | -- |
| GO:0005979 | regulation of glycogen biosynthetic process | IEA,IBA | 21873635 |
| GO:0005981 | regulation of glycogen catabolic process | IDA | 22225877 |
| GO:0006470 | protein dephosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for PPP1R3B Gene
Transcripts for PPP1R3B Gene
mRNA/cDNA for PPP1R3B Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000310455 5510 nts (view in UCSC)
- ENST00000519699 2334 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPP1R3B - Select products 50% OFF >
- * PPP1R3B CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPP1R3B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPP1R3B
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP1R3B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPP1R3B
- Browse OriGene Inhibitory RNA Products For PPP1R3B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3B
Clone Products
- Applied Biological Materials (abm): Clones for PPP1R3B - Select products 50% OFF >
- * PPP1R3B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PPP1R3B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP1R3B
Relevant External Links for PPP1R3B Gene
- GeneLoc Exon Structure for
- PPP1R3B
Expression for PPP1R3B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for PPP1R3B Gene
This gene is overexpressed in Whole Blood (x6.0) and Muscle - Skeletal (x4.2).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R3B
SOURCE GeneReport for Unigene cluster for PPP1R3B Gene:
Hs.458513mRNA Expression by UniProt/SwissProt for PPP1R3B Gene:
Q86XI6-PPR3B_HUMAN
Tissue specificity:
Highly expressed in the liver and, at lower levels, in skeletal muscle, including in vastus lateralis, gastrocnemius and soleus (at protein level). Highest mRNA levels are observed in skeletal muscle, and only moderate levels in liver and heart. Weak expression in placenta and lung.
Evidence on tissue expression from TISSUES for PPP1R3B Gene
- Liver(4.7)
- Skin(4.4)
- Muscle(3)
- Heart(2.4)
- Thyroid gland(2.1)
- Nervous system(2)
Primer Products
-
OriGene qPCR primer pairs for PPP1R3B
-
OriGene qPCR primer pairs and template standards for PPP1R3B
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R3B Gene
Orthologs for PPP1R3B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ppp1r3b 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PPP1R3B 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ppp1r3b 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PPP1R3B 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | PPP1R3B 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PPP1R3B 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp1r3b 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ppp1r3b 30 31 |
|
OneToOne | |
| Dr.4453 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG9238 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | H18N23.2 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PPP1R3B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PPP1R3B Gene
- ENSEMBL:
- Gene Tree for PPP1R3B (if available)
- TreeFam:
- Gene Tree for PPP1R3B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPP1R3B: view image
Paralogs for PPP1R3B Gene
Variants for PPP1R3B Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R3B Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs984779373 | Uncertain Significance: not provided | 9,141,134(-) | G/A | MISSENSE_VARIANT | |
| rs3748140 | - | p.Gly48Glu |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1371e214 | CNV | gain | 21293372 |
| dgv1372e214 | CNV | loss | 21293372 |
| esv2660363 | CNV | deletion | 23128226 |
| esv3616157 | CNV | loss | 21293372 |
| nsv436801 | CNV | insertion | 17901297 |
| nsv610206 | CNV | loss | 21841781 |
| nsv824529 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.80;
66.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPP1R3B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PPP1R3B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R3B Gene
Disorders for PPP1R3B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| maturity-onset diabetes of the young |
|
|
| bjornstad syndrome |
|
|
Search PPP1R3B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPP1R3B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R3B Gene
Publications for PPP1R3B Gene
- Expression and glycogenic effect of glycogen-targeting protein phosphatase 1 regulatory subunit GL in cultured human muscle. (PMID: 17555403) Montori-Grau M … Gómez-Foix AM (The Biochemical journal 2007) 2 3 4 23
- Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 41
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 41
- Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. (PMID: 21300955) Dehghan A … Chasman DI (Circulation 2011) 3 41
- Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 41
ExternalLinks
Products for PPP1R3B Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PPP1R3B
- Search Origene for MassSpec and Protein Over-expression Lysates for PPP1R3B
- Origene Custom Protein Services for PPP1R3B
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPP1R3B
- Browse OriGene Inhibitory RNA Products For PPP1R3B
- OriGene qPCR primer pairs for PPP1R3B
- OriGene qPCR primer pairs and template standards for PPP1R3B
- OriGene CRISPR knockouts for PPP1R3B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PPP1R3B
- Sino Biological Human cDNA Clone for PPP1R3B
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PPP1R3B
- Novus Biologicals proteins and lysates for PPP1R3B
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PPP1R3B
- Abcam proteins for PPP1R3B
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for PPP1R3B
- Taconic Biosciences Mouse Models for PPP1R3B
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PPP1R3B (AFLGC-PPP1R3B)
- VectorBuilder Custom and pre-made DNA vectors for PPP1R3B (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PPP1R3B (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PPP1R3B (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PPP1R3B CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PPP1R3B
- antibodies-online: Show 10 available PPP1R3B Antibodies ranked by validation data
- Compare Top PPP1R3B Antibodies
- antibodies-online: Search results for available PPP1R3B related products ranked by validation data
- antibodies-online: Show 11 available PPP1R3B Proteins ranked by validation data
- Compare Top PPP1R3B Proteins
- Horizon Cell Lines for PPP1R3B
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPP1R3B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP1R3B
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PPP1R3B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R3B
- Biorbyt antibodies for PPP1R3B
Sources for PPP1R3B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB