PPP1R2C

Summary

PPP1R2C (PPP1R2 family member C, HGNC:16324) is a protein-coding gene on chromosome Xp11.3, encoding Protein phosphatase inhibitor 2 family member C (O14990). Functions as a protein phosphatase inhibitor.

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction.

Source: NCBI Gene 80316 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_025210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16324
Approved symbol	PPP1R2C
Name	PPP1R2 family member C
Location	Xp11.3
Locus type	gene with protein product
Status	Approved
Aliases	I-4
Ensembl gene	ENSG00000102055
Ensembl biotype	protein_coding
OMIM	301017
Entrez	80316

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378131

RefSeq mRNA: 1 — MANE Select: NM_025210 NM_025210

CCDS: CCDS87739

Canonical transcript exons

ENST00000378131 — 1 exons

Exon	Start	End
ENSE00001476370	42777366	42778163

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 95.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0722 / max 62.7008, expressed in 8 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198977	0.0722	8

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.26	gold quality
right testis	UBERON:0004534	95.10	gold quality
sperm	CL:0000019	93.56	gold quality
male germ cell	CL:0000015	92.40	gold quality
testis	UBERON:0000473	92.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.22	gold quality
adult organism	UBERON:0007023	82.66	gold quality
triceps brachii	UBERON:0001509	63.22	gold quality
gluteal muscle	UBERON:0002000	63.16	gold quality
buccal mucosa cell	CL:0002336	61.60	gold quality
tongue squamous epithelium	UBERON:0006919	58.35	gold quality
frontal pole	UBERON:0002795	56.66	gold quality
tibia	UBERON:0000979	56.30	gold quality
superficial temporal artery	UBERON:0001614	56.26	gold quality
gingival epithelium	UBERON:0001949	53.14	gold quality
paraflocculus	UBERON:0005351	52.28	gold quality
endometrium epithelium	UBERON:0004811	52.19	gold quality
parotid gland	UBERON:0001831	52.14	gold quality
quadriceps femoris	UBERON:0001377	52.08	gold quality
vastus lateralis	UBERON:0001379	51.40	gold quality
parietal pleura	UBERON:0002400	51.26	gold quality
pleura	UBERON:0000977	50.89	gold quality
visceral pleura	UBERON:0002401	50.86	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
metanephric glomerulus	UBERON:0004736	49.61	gold quality
myocardium	UBERON:0002349	49.55	gold quality
deltoid	UBERON:0001476	49.51	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

Literature-anchored findings (GeneRIF, showing 2)

• inhibitor-1beta consisted of 132 amino acids of which the N-terminal 61 amino acid sequences were identical to inhibitor-1 while the sequence after residue-61 was markedly different. (PMID:11883959)
• A streamlined nomenclature for human primary regulators of type-1 protein phosphatase (PP1) genes and pseudogenes is proposed. (PMID:11948623)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus		ENSMUSG00000121742
drosophila_melanogaster	I-2	FBGN0028429
drosophila_melanogaster	CG12620	FBGN0032626
drosophila_melanogaster	CG6380	FBGN0032632
caenorhabditis_elegans		WBGENE00021312

Paralogs (2): PPP1R2 (ENSG00000184203), PPP1R2B (ENSG00000231989)

Protein

Protein identifiers

Protein phosphatase inhibitor 2 family member C — O14990 (reviewed: O14990)

Alternative names: PPP1R2 family member B, Protein phosphatase 1, regulatory subunit 2 pseudogene 9, Type-1 protein phosphatase inhibitor 4

All UniProt accessions (1): O14990

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a protein phosphatase inhibitor. It inhibits activity of the catalytic subunit of PP1 and weakly inhibits the activity of myosin-associated phosphates.

Tissue specificity. Detected in sperm (at protein level).

Similarity. Belongs to the protein phosphatase inhibitor 2 family.

RefSeq proteins (1): NP_079486* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007062	PPI-2	Family

Pfam: PF04979

UniProt features (10 total): region of interest 6, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14990-F1	67.03	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): MODULE_99, GNF2_CCNA1, XU_GH1_EXOGENOUS_TARGETS_DN, GOMF_PHOSPHATASE_INHIBITOR_ACTIVITY, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GOMF_PHOSPHATASE_REGULATOR_ACTIVITY, RORA2_01, chrXp11, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_DN, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, MYBL1_TARGET_GENES, GOMF_MOLECULAR_FUNCTION_INHIBITOR_ACTIVITY

GO Biological Process (2): regulation of signal transduction (GO:0009966), intracellular signal transduction (GO:0035556)

GO Molecular Function (2): protein phosphatase inhibitor activity (GO:0004864), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	2
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
intracellular anatomical structure	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
binding	1

Protein interactions and networks

STRING

360 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP1R2C	BRI3	O95415	624
PPP1R2C	CROCC2	H7BZ55	447
PPP1R2C	KRABD4	Q5JUW0	437
PPP1R2C	C16orf95	Q9H693	435
PPP1R2C	PPP1R12C	Q9BZL4	421
PPP1R2C	SPANXN1	Q5VSR9	416
PPP1R2C	DUSP21	Q9H596	406
PPP1R2C	SPATA25	Q9BR10	396
PPP1R2C	CT47A11	Q5JQC4	394
PPP1R2C	C1orf174	Q8IYL3	393
PPP1R2C	PPP1R11	O60927	377
PPP1R2C	DIPK2B	Q9H7Y0	371
PPP1R2C	ZNF674	Q2M3X9	367
PPP1R2C	EFHC2	Q5JST6	357
PPP1R2C	HAGHL	Q6PII5	350

IntAct

12 interactions, top by confidence:

A	B	Type	Score
PPP1R2C	PPP1CC	psi-mi:“MI:0915”(physical association)	0.560
PPP1R2C	PPP1CA	psi-mi:“MI:0915”(physical association)	0.560
PPP1R2C	PPP1CB	psi-mi:“MI:0915”(physical association)	0.560
PPP1R2C	PPP1CA	psi-mi:“MI:0915”(physical association)	0.000
PPP1R2C	PPP1CB	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A1B0GV96, A0MZ66, A0MZ67, A2VDA9, A5PJI6, A6NKN8, A8R4Q8, E7F7X0, O14990, O19021, O42932, O62770, O62771, P13505, P36425, P48539, P54866, P63054, P63055, P84086, P84087, P84088, Q04504, Q0P561, Q148C4, Q15506, Q28IH8, Q3UYG8, Q4R615, Q5F3A1, Q5M8L3, Q5R4Q3, Q5ZM33, Q62252, Q62736, Q6DBA5, Q6GNQ4, Q6NWC9, Q6P3G4, Q6PUV4

Diamond homologs: O14990, P11845, P41236, P50411, Q3SZX2, Q4R615, Q6NXS1, Q96PQ5, Q9DCL8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1326 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:42778039:A:G	I14T	0.982
X:42778032:T:A	K16N	0.977
X:42778032:T:G	K16N	0.977
X:42778044:C:A	K12N	0.973
X:42778044:C:G	K12N	0.973
X:42778033:T:A	K16I	0.971
X:42777941:A:G	W47R	0.962
X:42777941:A:T	W47R	0.962
X:42777939:C:A	W47C	0.961
X:42777939:C:G	W47C	0.961
X:42778043:C:G	G13R	0.959
X:42778043:C:T	G13R	0.959
X:42777669:G:C	F137L	0.958
X:42777669:G:T	F137L	0.958
X:42777671:A:G	F137L	0.958
X:42777657:T:A	R141S	0.950
X:42777657:T:G	R141S	0.950
X:42778033:T:G	K16T	0.948
X:42778034:T:C	K16E	0.947
X:42778039:A:C	I14S	0.944
X:42778042:C:T	G13E	0.943
X:42777676:C:G	R135P	0.937
X:42778036:A:G	L15P	0.937
X:42777620:C:G	A154P	0.927
X:42778043:C:A	G13W	0.926
X:42777615:T:A	R155S	0.917
X:42777615:T:G	R155S	0.917
X:42778046:T:C	K12E	0.917
X:42777619:G:T	A154D	0.916
X:42778036:A:T	L15Q	0.916

dbSNP variants (sampled 300 via entrez): RS1000370132 (X:42778357 C>G,T), RS1000839077 (X:42778873 A>G), RS1001242599 (X:42777713 T>A), RS1001313904 (X:42779238 C>T), RS1002183735 (X:42779665 C>A), RS1002270923 (X:42779005 A>G), RS1003266409 (X:42777108 GTTACC>G), RS1004171007 (X:42778903 C>G), RS1004454441 (X:42779564 C>G,T), RS1005017476 (X:42779326 G>C,T), RS1005172079 (X:42777083 T>A,C), RS1005391171 (X:42777503 C>G,T), RS1005429319 (X:42778100 G>A), RS1009593299 (X:42778805 C>G,T), RS1009700277 (X:42778003 G>T)

Disease associations

OMIM: gene MIM:301017 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.