Q969Q6 · P2R3C_HUMAN
- ProteinSerine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma
- GenePPP2R3C
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids453 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity).
May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728).
May play a role in the activation-induced cell death of B-cells (By similarity).
May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728).
May play a role in the activation-induced cell death of B-cells (By similarity).
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | centrosome | |
Cellular Component | cytosol | |
Cellular Component | Golgi apparatus | |
Cellular Component | nucleoplasm | |
Molecular Function | metal ion binding | |
Biological Process | B cell homeostasis | |
Biological Process | cortical cytoskeleton organization | |
Biological Process | microtubule cytoskeleton organization | |
Biological Process | positive regulation of B cell differentiation | |
Biological Process | regulation of antimicrobial humoral response | |
Biological Process | regulation of dephosphorylation | |
Biological Process | regulation of mitochondrial depolarization | |
Biological Process | spleen development | |
Biological Process | T cell homeostasis |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSerine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ969Q6
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Myoectodermal gonadal dysgenesis syndrome (MEGD)
- Note
- DescriptionAn autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay.
- See alsoMIM:618419
Natural variants in MEGD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_082202 | 103 | L>P | in MEGD; dbSNP:rs754106837 | |
VAR_082203 | 193 | L>S | in MEGD; dbSNP:rs1566411552 | |
VAR_082204 | 350 | F>S | in MEGD; dbSNP:rs1566684983 |
Spermatogenic failure 36 (SPGF36)
- Note
- DescriptionAn autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus.
- See alsoMIM:618420
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_082202 | 103 | in MEGD; dbSNP:rs754106837 | |||
Sequence: L → P | ||||||
Natural variant | VAR_082203 | 193 | in MEGD; dbSNP:rs1566411552 | |||
Sequence: L → S | ||||||
Natural variant | VAR_082204 | 350 | in MEGD; dbSNP:rs1566684983 | |||
Sequence: F → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 385 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000277833 | 1-453 | Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma | |||
Sequence: MDWKEVLRRRLATPNTCPNKKKSEQELKDEEMDLFTKYYSEWKGGRKNTNEFYKTIPRFYYRLPAEDEVLLQKLREESRAVFLQRKSRELLDNEELQNLWFLLDKHQTPPMIGEEAMINYENFLKVGEKAGAKCKQFFTAKVFAKLLHTDSYGRISIMQFFNYVMRKVWLHQTRIGLSLYDVAGQGYLRESDLENYILELIPTLPQLDGLEKSFYSFYVCTAVRKFFFFLDPLRTGKIKIQDILACSFLDDLLELRDEELSKESQETNWFSAPSALRVYGQYLNLDKDHNGMLSKEELSRYGTATMTNVFLDRVFQECLTYDGEMDYKTYLDFVLALENRKEPAALQYIFKLLDIENKGYLNVFSLNYFFRAIQELMKIHGQDPVSFQDVKDEIFDMVKPKDPLKISLQDLINSNQGDTVTTILIDLNGFWTYENREALVANDSENSADLDDT |
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitously expressed in brain and other tissues.
Developmental stage
Expressed in fetal brain.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with MCM3AP/GANP. Interacts with PPP5C, and the phosphatase 2A core enzyme composed of the PPP2CA catalytic subunit and the constant regulatory subunit PPP2R1A. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q969Q6 | CCDC146 Q8IYE0 | 3 | EBI-2561661, EBI-10749669 | |
BINARY | Q969Q6 | CMTM5 Q96DZ9 | 3 | EBI-2561661, EBI-2548702 | |
BINARY | Q969Q6 | ENKD1 Q9H0I2 | 3 | EBI-2561661, EBI-744099 | |
BINARY | Q969Q6 | FAM161A Q3B820 | 3 | EBI-2561661, EBI-719941 | |
BINARY | Q969Q6 | FAM161B Q96MY7 | 3 | EBI-2561661, EBI-7225287 | |
BINARY | Q969Q6 | MOAP1 Q96BY2 | 3 | EBI-2561661, EBI-739825 | |
BINARY | Q969Q6 | POLR1C O15160 | 5 | EBI-2561661, EBI-1055079 | |
BINARY | Q969Q6 | PRPF31 Q8WWY3 | 3 | EBI-2561661, EBI-1567797 | |
BINARY | Q969Q6 | RTN3 O95197 | 3 | EBI-2561661, EBI-740467 | |
BINARY | Q969Q6 | SMG9 Q9H0W8 | 3 | EBI-2561661, EBI-2872322 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 273-308 | EF-hand 1 | ||||
Sequence: PSALRVYGQYLNLDKDHNGMLSKEELSRYGTATMTN | ||||||
Domain | 341-376 | EF-hand 2 | ||||
Sequence: KEPAALQYIFKLLDIENKGYLNVFSLNYFFRAIQEL |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q969Q6-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length453
- Mass (Da)53,316
- Last updated2001-12-01 v1
- Checksum9749B7188B2F7599
Q969Q6-2
- Name2
- Differences from canonical
- 1-110: Missing
Computationally mapped potential isoform sequences
There are 12 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YJR2 | H0YJR2_HUMAN | PPP2R3C | 19 | ||
H0YJC5 | H0YJC5_HUMAN | PPP2R3C | 226 | ||
H0YJV0 | H0YJV0_HUMAN | PPP2R3C | 128 | ||
H0YJ16 | H0YJ16_HUMAN | PPP2R3C | 41 | ||
G3V5U8 | G3V5U8_HUMAN | PPP2R3C | 106 | ||
G3V561 | G3V561_HUMAN | PPP2R3C | 134 | ||
G3V3T9 | G3V3T9_HUMAN | PPP2R3C | 53 | ||
G3V3V5 | G3V3V5_HUMAN | PPP2R3C | 29 | ||
G3V228 | G3V228_HUMAN | PPP2R3C | 22 | ||
G3V2K1 | G3V2K1_HUMAN | PPP2R3C | 226 | ||
Q86US5 | Q86US5_HUMAN | PPP2R3C | 190 | ||
A0A0C4DGK2 | A0A0C4DGK2_HUMAN | PPP2R3C | 167 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_023113 | 1-110 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 106 | in Ref. 2; BAA91308 | ||||
Sequence: H → R | ||||||
Sequence conflict | 240 | in Ref. 6; AAT44532 | ||||
Sequence: I → T | ||||||
Sequence conflict | 301 | in Ref. 2; BAA91308 | ||||
Sequence: Y → H |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY157304 EMBL· GenBank· DDBJ | AAO17045.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000651 EMBL· GenBank· DDBJ | BAA91308.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293717 EMBL· GenBank· DDBJ | BAG57148.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471078 EMBL· GenBank· DDBJ | EAW65886.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471078 EMBL· GenBank· DDBJ | EAW65887.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471078 EMBL· GenBank· DDBJ | EAW65889.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471078 EMBL· GenBank· DDBJ | EAW65890.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC006823 EMBL· GenBank· DDBJ | AAH06823.1 EMBL· GenBank· DDBJ | mRNA | ||
BC010293 EMBL· GenBank· DDBJ | AAH10293.1 EMBL· GenBank· DDBJ | mRNA | ||
BC012563 EMBL· GenBank· DDBJ | AAH12563.1 EMBL· GenBank· DDBJ | mRNA | ||
BC063438 EMBL· GenBank· DDBJ | AAH63438.1 EMBL· GenBank· DDBJ | mRNA | ||
BX248043 EMBL· GenBank· DDBJ | CAD62352.1 EMBL· GenBank· DDBJ | mRNA | ||
AY518535 EMBL· GenBank· DDBJ | AAT44532.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AY518537 EMBL· GenBank· DDBJ | AAT44533.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |