PPP3CB protein phosphatase 3 catalytic subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP3CBprovided by HGNC
Official Full Name: protein phosphatase 3 catalytic subunit betaprovided by HGNC
Primary source: HGNC:HGNC:9315
See related: Ensembl:ENSG00000107758 MIM:114106; AllianceGenome:HGNC:9315
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNA2; CALNB; CALNA2; PP2Bbeta
Summary: Enables several functions, including calmodulin binding activity; calmodulin-dependent protein phosphatase activity; and protein phosphatase 2B binding activity. Involved in calcineurin-NFAT signaling cascade; positive regulation of transcription by RNA polymerase II; and protein dephosphorylation. Located in cytoplasm. Part of calcineurin complex. Implicated in aortic valve stenosis. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 40.2), fat (RPKM 17.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (73436433..73496024, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (74307846..74367439, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (75196191..75255782, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High PPP3CB expression is associated with neuroblastoma.
Title: PPP3CB contributes to poor prognosis through activating nuclear factor of activated T-cells signaling in neuroblastoma.
Study demonstrates that PPP3CB overexpression inhibits EMT and migration of G401 kidney cell line and promotes tumor proliferation. Depletion of PPP3CB leads to acquisition of a mesenchymal state, thus enhancing cell migration.
Title: PPP3CB Inhibits Migration of G401 Cells via Regulating Epithelial-to-Mesenchymal Transition and Promotes G401 Cells Growth.
The mRNA expressions of PPP3CB and MEF2C were significantly up-regulated, and CAMK1 and PPP3R1 were significantly down-regulated in mitral regurgitation(MR) patients compared to normal subjects. Moreover, MR patients had significantly increased mRNA levels of PPP3CB, MEF2C and PLCE1 compared to aortic valve disease patients
Title: Exploring Regulatory Mechanisms of Atrial Myocyte Hypertrophy of Mitral Regurgitation through Gene Expression Profiling Analysis: Role of NFAT in Cardiac Hypertrophy.
These findings therefore provide initial support for the novel mechanistic hypothesis that oxidation-induced global and/or local conformational changes within calcineurin
Title: Oxidation-induced conformational changes in calcineurin determined by covalent labeling and tandem mass spectrometry.
lower expression of PPP3CA and PPP3CB genes in atrium myocardium can be related to expressed postinfarction LV remodeling.
Title: [Expression profile of calcineurin pathway genes in myocardium tissues in relation to ischemic heart remodeling in humans].
Present findings indicate that downregulation of hemoxygenase-1 expression in neutrophils from hypertensive subjects is likely mediated by CN, which acts by hindering translocation to the nucleus of the transcription factor NRF2.
Title: Calcineurin expression and activity is regulated by the intracellular redox status and under hypertension in human neutrophils.
The C allele of protein phosphatase 3 subunit alpha rs3804358 polymorphism was overrepresented in athletes compared with controls, whereas the T allele of protein phosphatase 3 subunit beta rs3763679 polymorphism was underrepresented in athletes.
Title: Are calcineurin genes associated with athletic status? A function, replication study.
ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function.
Title: ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes at chromosome 10q22 associated with the subgroup of schizophrenia with deficits in attention and executive function.
The expression of a constitutively active Calcineurin stimulates myoblast differentiation, whereas a Calcineurin antisense has the opposite effect.
Title: P43-dependent mitochondrial activity regulates myoblast differentiation and slow myosin isoform expression by control of Calcineurin expression.
A novel-splicing variant of calcineurin Ass CnAss-FK, which is encoded by an intron-retaining mRNA and is deficient in the autoinhibitory domain, is predominantly expressed in mature follicular keratinocytes.
Title: Expression of a constitutively active calcineurin encoded by an intron-retaining mRNA in follicular keratinocytes.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin	PubMed
Tat	tat	Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT, suggesting Tat activates calcineurin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31484 (e-PCR)
- UniSTS:78376

WI-19557 (e-PCR)
- UniSTS:48692

RH123896 (e-PCR)
- UniSTS:136271

G17405 (e-PCR)
- UniSTS:75608

G17468 (e-PCR)
- UniSTS:67419

D10S2400 (e-PCR)
- UniSTS:82041

RH98703 (e-PCR)
- UniSTS:84380

GDB:451754 (e-PCR)
- UniSTS:157361

SHGC-37090 (e-PCR)
- UniSTS:34225

RH75440 (e-PCR)
- UniSTS:85194

D10S2331 (e-PCR)
- UniSTS:77789

RH45189 (e-PCR)
- UniSTS:78076

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	NAS Non-traceable Author Statement more info	PubMed
enables calmodulin-dependent protein phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin-dependent protein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin-dependent protein phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables calmodulin-dependent protein phosphatase activity	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IDA Inferred from Direct Assay more info	PubMed
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2B binding	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine phosphatase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation	TAS Traceable Author Statement more info	PubMed
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in T cell proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in axon extension	TAS Traceable Author Statement more info	PubMed
involved_in calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in calcineurin-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcineurin-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium-ion regulated exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in dephosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in learning	TAS Traceable Author Statement more info	PubMed
involved_in locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in lymphangiogenesis	IEA Inferred from Electronic Annotation more info
involved_in memory	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of lysosome organization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic plasticity	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle fiber development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in Z disc	IEA Inferred from Electronic Annotation more info
part_of calcineurin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of calcineurin complex	IDA Inferred from Direct Assay more info	PubMed
part_of calcineurin complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of protein serine/threonine phosphatase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein phosphatase 2B catalytic subunit beta isoform

Names: CAM-PRP catalytic subunit; CNA beta; calcineurin A beta; calcineurin A2; protein phosphatase 3, catalytic subunit, beta isozyme; protein phosphatase from PCR fragment H32

NP_001135825.1

EC 3.1.3.16

NP_001135826.1

EC 3.1.3.16

NP_001276897.1

EC 3.1.3.16

NP_001276898.1

EC 3.1.3.16

NP_066955.1

EC 3.1.3.16

XP_005270001.1

EC 3.1.3.16

XP_047281382.1

EC 3.1.3.16

XP_047281383.1

EC 3.1.3.16

XP_047281384.1

EC 3.1.3.16

XP_047281385.1

EC 3.1.3.16

XP_047281386.1

EC 3.1.3.16

XP_047281387.1

EC 3.1.3.16

XP_047281388.1

EC 3.1.3.16

XP_047281389.1

EC 3.1.3.16

XP_047281390.1

EC 3.1.3.16

XP_054222186.1

EC 3.1.3.16

XP_054222187.1

EC 3.1.3.16

XP_054222188.1

EC 3.1.3.16

XP_054222189.1

EC 3.1.3.16

XP_054222190.1

EC 3.1.3.16

XP_054222191.1

EC 3.1.3.16

XP_054222192.1

EC 3.1.3.16

XP_054222193.1

EC 3.1.3.16

XP_054222194.1

EC 3.1.3.16

XP_054222195.1

EC 3.1.3.16

XP_054222196.1

EC 3.1.3.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142353.3 → NP_001135825.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform a

See identical proteins and their annotated locations for NP_001135825.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

BC028049, BX114972, DA854064

Consensus CDS

CCDS44437.1

UniProtKB/TrEMBL

Q5F2F8

Related

ENSP00000378306.2, ENST00000394829.6

Conserved Domains (1) summary

cd07416
Location:50 → 354

MPP_PP2B; PP2B, metallophosphatase domain
NM_001142354.3 → NP_001135826.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform c

See identical proteins and their annotated locations for NP_001135826.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform c, which is shorter than isoform a.

Source sequence(s)

AJ488506, BX114972, DA854064

Consensus CDS

CCDS44436.1

UniProtKB/TrEMBL

Q5F2F8

Related

ENSP00000378305.2, ENST00000394828.6

Conserved Domains (1) summary

cd07416
Location:50 → 354

MPP_PP2B; PP2B, metallophosphatase domain
NM_001289968.2 → NP_001276897.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform d

See identical proteins and their annotated locations for NP_001276897.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple differences in the coding region, one of which results in a frameshift and early stop codon, compared to variant 1. The resulting protein (isoform d) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK301582, CA429703, DA128707, M29550

UniProtKB/TrEMBL

Q5F2F8

Related

ENSP00000343147.3, ENST00000342558.3

Conserved Domains (2) summary

smart00156
Location:67 → 356

PP2Ac; Protein phosphatase 2A homologues, catalytic domain

cd07416
Location:50 → 372

MPP_PP2B; PP2B, metallophosphatase domain
NM_001289969.2 → NP_001276898.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform e

See identical proteins and their annotated locations for NP_001276898.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region, one of which results in a frameshift and early stop codon, compared to variant 1. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK301582, AL359074, CA429703, DB479220, M29550

UniProtKB/TrEMBL

B7Z781

Conserved Domains (2) summary

cd07416
Location:1 → 268

MPP_PP2B; PP2B, metallophosphatase domain

pfam00149
Location:7 → 205

Metallophos; Calcineurin-like phosphoesterase
NM_021132.4 → NP_066955.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b

See identical proteins and their annotated locations for NP_066955.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform b which is shorter than isoform a.

Source sequence(s)

BC028049, BC035464, BX114972, DA854064

Consensus CDS

CCDS7328.1

UniProtKB/Swiss-Prot

P16298, P16299, Q5F2F9, Q8N1F0, Q8N3W4

UniProtKB/TrEMBL

Q5F2F8

Related

ENSP00000353881.5, ENST00000360663.10

Conserved Domains (1) summary

cd07416
Location:50 → 354

MPP_PP2B; PP2B, metallophosphatase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

73436433..73496024 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005269944.2 → XP_005270001.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X3

See identical proteins and their annotated locations for XP_005270001.1

UniProtKB/TrEMBL

Q5F2F8

Conserved Domains (1) summary

cd07416
Location:50 → 354

MPP_PP2B; PP2B, metallophosphatase domain
XM_047425427.1 → XP_047281383.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X2
XM_047425426.1 → XP_047281382.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X1
XM_047425430.1 → XP_047281386.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4
XM_047425434.1 → XP_047281390.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X8
XM_047425432.1 → XP_047281388.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X6
XM_047425433.1 → XP_047281389.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X7
XM_047425431.1 → XP_047281387.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X5
XM_047425428.1 → XP_047281384.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4
XM_047425429.1 → XP_047281385.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

74307846..74367439 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366213.1 → XP_054222188.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X3
XM_054366212.1 → XP_054222187.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X2
XM_054366211.1 → XP_054222186.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X1
XM_054366216.1 → XP_054222191.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4
XM_054366221.1 → XP_054222196.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X8
XM_054366219.1 → XP_054222194.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X6
XM_054366220.1 → XP_054222195.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X7
XM_054366218.1 → XP_054222193.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X5
XM_054366214.1 → XP_054222189.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4
XM_054366215.1 → XP_054222190.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4
XM_054366217.1 → XP_054222192.1 serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform X4