Human Gene PPP2R5C (uc001ykk.3)
  Description: Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 6, mRNA.
RefSeq Summary (NM_001161726): The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr14:102,228,135-102,394,328 Size: 166,194 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr14:102,228,231-102,391,609 Size: 163,379 Coding Exon Count: 15 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:102,228,135-102,394,328)mRNA (may differ from genome)Protein (540 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PPP2R5C
CDC HuGE Published Literature: PPP2R5C
Positive Disease Associations: Autistic Disorder
Related Studies:
  1. Autistic Disorder
    Richard Anney et al. Human molecular genetics 2010, A genome-wide scan for common alleles affecting risk for autism., Human molecular genetics. [PubMed 20663923]

-  MalaCards Disease Associations
  MalaCards Gene Search: PPP2R5C
Diseases sorted by gene-association score: ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (12), eec syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.52 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 428.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.2096-0.648 Picture PostScript Text
3' UTR -764.142719-0.281 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF01603 - Protein phosphatase 2A regulatory B subunit (B56 family)

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q13362-4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
  Ensembl  SGD
  Protein Sequence  Protein Sequence
  Alignment  Alignment

-  Descriptions from all associated GenBank mRNAs
  LF384889 - JP 2014500723-A/192392: Polycomb-Associated Non-Coding RNAs.
AL834350 - Homo sapiens mRNA; cDNA DKFZp761H0317 (from clone DKFZp761H0317).
BC051442 - Homo sapiens cDNA clone IMAGE:6163196, partial cds.
AK131391 - Homo sapiens cDNA FLJ16473 fis, clone BRHIP3026052, highly similar to Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, gamma isoform.
AK302470 - Homo sapiens cDNA FLJ57234 complete cds, highly similar to Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform.
AK315072 - Homo sapiens cDNA, FLJ96026.
Z69030 - H.sapiens mRNA for gamma 1 isoform of 61kDa regulatory subunit of PP2A.
U37352 - Human protein phosphatase 2A B'alpha1 regulatory subunit mRNA, complete cds.
BC016183 - Homo sapiens protein phosphatase 2, regulatory subunit B', gamma isoform, mRNA (cDNA clone MGC:23064 IMAGE:4855950), complete cds.
KJ901658 - Synthetic construct Homo sapiens clone ccsbBroadEn_11052 PPP2R5C gene, encodes complete protein.
AB451341 - Homo sapiens PPP2R5C mRNA for serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform, partial cds, clone: FLJ03003AAAF.
D26445 - Homo sapiens KIAA0044 mRNA, partial cds.
L42375 - Homo sapiens protein phosphatase 2A B56-gamma1 (PP2A) mRNA, 3' end of cds.
AB463199 - Synthetic construct DNA, clone: pF1KA0044, Homo sapiens PPP2R5C gene for protein phosphatase 2, regulatory subunit B', gamma isoform, without stop codon, in Flexi system.
BX248254 - human full-length cDNA clone CS0DF017YJ08 of Fetal brain of Homo sapiens (human).
MA620466 - JP 2018138019-A/192392: Polycomb-Associated Non-Coding RNAs.
AK295449 - Homo sapiens cDNA FLJ57986 complete cds, highly similar to Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform.
CU677587 - Synthetic construct Homo sapiens gateway clone IMAGE:100017630 5' read PPP2R5C mRNA.
LF209657 - JP 2014500723-A/17160: Polycomb-Associated Non-Coding RNAs.
LF330591 - JP 2014500723-A/138094: Polycomb-Associated Non-Coding RNAs.
JD083654 - Sequence 64678 from Patent EP1572962.
JD555303 - Sequence 536327 from Patent EP1572962.
JD232600 - Sequence 213624 from Patent EP1572962.
JD142913 - Sequence 123937 from Patent EP1572962.
JD207003 - Sequence 188027 from Patent EP1572962.
JD263036 - Sequence 244060 from Patent EP1572962.
JD219767 - Sequence 200791 from Patent EP1572962.
JD224682 - Sequence 205706 from Patent EP1572962.
JD149641 - Sequence 130665 from Patent EP1572962.
JD160423 - Sequence 141447 from Patent EP1572962.
JD092420 - Sequence 73444 from Patent EP1572962.
JD563869 - Sequence 544893 from Patent EP1572962.
JD458772 - Sequence 439796 from Patent EP1572962.
JD537562 - Sequence 518586 from Patent EP1572962.
JD375861 - Sequence 356885 from Patent EP1572962.
JD432153 - Sequence 413177 from Patent EP1572962.
JD171300 - Sequence 152324 from Patent EP1572962.
JD488203 - Sequence 469227 from Patent EP1572962.
JD423691 - Sequence 404715 from Patent EP1572962.
JD371686 - Sequence 352710 from Patent EP1572962.
JD398866 - Sequence 379890 from Patent EP1572962.
JD204263 - Sequence 185287 from Patent EP1572962.
JD302504 - Sequence 283528 from Patent EP1572962.
JD346840 - Sequence 327864 from Patent EP1572962.
JD296278 - Sequence 277302 from Patent EP1572962.
JD420715 - Sequence 401739 from Patent EP1572962.
JD333671 - Sequence 314695 from Patent EP1572962.
JD274274 - Sequence 255298 from Patent EP1572962.
JD436187 - Sequence 417211 from Patent EP1572962.
JD109358 - Sequence 90382 from Patent EP1572962.
JD091716 - Sequence 72740 from Patent EP1572962.
JD126567 - Sequence 107591 from Patent EP1572962.
JD345317 - Sequence 326341 from Patent EP1572962.
JD224345 - Sequence 205369 from Patent EP1572962.
MA566168 - JP 2018138019-A/138094: Polycomb-Associated Non-Coding RNAs.
MA445234 - JP 2018138019-A/17160: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04114 - Oocyte meiosis
hsa04310 - Wnt signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q13362 (Reactome details) participates in the following event(s):

R-HSA-6792871 CCNG1 recruits PP2A-PPP2R5C to MDM2
R-HSA-6792863 PP2A-PP2R5C dephosphorylates MDM2
R-HSA-6811454 MAPKs phosphorylate PP2A
R-HSA-6811472 IER3 recruits MAPKs to PP2A-B56-beta,gamma
R-HSA-195251 Assembly of the destruction complex
R-HSA-389532 PP2A binds CTLA4 homodimer
R-HSA-432143 PECAM-1 binds PP2A
R-HSA-8857925 Inhibition of PP2A activity by phosphorylation of the catalytic subunit at tyrosine Y307
R-HSA-201685 Beta-catenin is released from the destruction complex
R-HSA-388833 Phosphorylation of CTLA-4
R-HSA-6811504 AKT1 dephosphorylation by PP2A-B56-beta,gamma
R-HSA-5229343 AXIN is phosphorylated in the destruction complex
R-HSA-195280 Dissociation of beta-catenin from Axin and association of beta catenin with phospho-(20 aa) APC in the detruction complex
R-HSA-195275 Phosphorylation of APC component of the destruction complex
R-HSA-2130279 Association of beta-catenin with the RBX1:SCF(beta-TrCP1) ubiquitin ligase complex
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-388809 CTLA-4 binds B7-1/B7-2
R-HSA-195304 Association of beta-catenin with the destruction complex
R-HSA-390329 Dephosphorylation of AKT by PP2A
R-HSA-5672957 PP2A dephosphorylates KSR1
R-HSA-5672961 PP2A dephosphorylates inactive RAFs
R-HSA-5675431 PP2A dephosphorylates RAF1
R-HSA-2130286 Multi-ubiquitination of phospho-beta-catenin by RBX1:SCF(beta-TrCP1)
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-195287 Phosphorylation of phospho-(Ser45 ) at Thr 41 by GSK-3
R-HSA-195318 Phosphorylation of beta-catenin at Ser45 by CK1 alpha
R-HSA-195300 Phosphorylation of phospho-(Ser45,Thr41,Ser37) at Ser33 by GSK-3
R-HSA-195283 Phosphorylation of phospho- (Ser45, Thr41) beta-catenin at Ser37 by GSK-3
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-6804757 Regulation of TP53 Degradation
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-6806003 Regulation of TP53 Expression and Degradation
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-389513 CTLA4 inhibitory signaling
R-HSA-432142 Platelet sensitization by LDL
R-HSA-5467337 APC truncation mutants have impaired AXIN binding
R-HSA-5467340 AXIN missense mutants destabilize the destruction complex
R-HSA-5467348 Truncations of AMER1 destabilize the destruction complex
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195721 Signaling by WNT
R-HSA-388841 Costimulation by the CD28 family
R-HSA-418346 Platelet homeostasis
R-HSA-4839744 truncated APC mutants destabilize the destruction complex
R-HSA-4839735 AXIN mutants destabilize the destruction complex, activating WNT signaling
R-HSA-4839748 AMER1 mutants destabilize the destruction complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-5673000 RAF activation
R-HSA-5675221 Negative regulation of MAPK pathway
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-5358751 S45 mutants of beta-catenin aren't phosphorylated
R-HSA-5358752 T41 mutants of beta-catenin aren't phosphorylated
R-HSA-5358749 S37 mutants of beta-catenin aren't phosphorylated
R-HSA-5358747 S33 mutants of beta-catenin aren't phosphorylated
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-196299 Beta-catenin phosphorylation cascade
R-HSA-5339716 Misspliced GSK3beta mutants stabilize beta-catenin
R-HSA-162582 Signal Transduction
R-HSA-1280218 Adaptive Immune System
R-HSA-109582 Hemostasis
R-HSA-4791275 Signaling by WNT in cancer
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-212436 Generic Transcription Pathway
R-HSA-4839743 phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-5663202 Diseases of signal transduction
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-1643685 Disease
R-HSA-5683057 MAPK family signaling cascades
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0044, NM_001161726, NP_001155198, Q13362-4
UCSC ID: uc001ykk.3
RefSeq Accession: NM_001161726
Protein: Q13362-4, splice isoform of Q13362 CCDS: CCDS53911.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001161726.1
exon count: 15CDS single in 3' UTR: no RNA size: 4449
ORF size: 1623CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3442.00frame shift in genome: no % Coverage: 99.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.