PEG10

Summary

PEG10 (paternally expressed 10, HGNC:14005) is a protein-coding gene on chromosome 7q21.3, encoding Retrotransposon-derived protein PEG10 (Q86TG7). Retrotransposon-derived protein that binds its own mRNA and self-assembles into virion-like capsids.

This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene.

Source: NCBI Gene 23089 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14005
Approved symbol	PEG10
Name	paternally expressed 10
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2, SIRH1, RTL2
Ensembl gene	ENSG00000242265
Ensembl biotype	protein_coding
OMIM	609810
Entrez	23089

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000465184, ENST00000482108, ENST00000488574, ENST00000493935, ENST00000612748, ENST00000612941, ENST00000613043, ENST00000615790, ENST00000617526

RefSeq mRNA: 6 — MANE Select: None NM_001040152, NM_001172437, NM_001172438, NM_001184961, NM_001184962, NM_015068

CCDS: CCDS55126, CCDS75636, CCDS75637

Canonical transcript exons

ENST00000465184 — 2 exons

Exon	Start	End
ENSE00001904124	94664735	94665075
ENSE00001938487	94668734	94669180

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 118.3541 / max 4649.2557, expressed in 1426 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79698	114.4512	1421
79700	2.1102	591
79699	0.5776	241
79728	0.5675	227
79726	0.3879	194
79713	0.1456	74
79712	0.0612	15
79711	0.0529	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.60	gold quality
ventricular zone	UBERON:0003053	99.44	gold quality
ganglionic eminence	UBERON:0004023	99.30	gold quality
right adrenal gland cortex	UBERON:0035827	99.26	gold quality
adrenal cortex	UBERON:0001235	99.17	gold quality
nucleus accumbens	UBERON:0001882	99.13	gold quality
left adrenal gland cortex	UBERON:0035825	99.13	gold quality
left adrenal gland	UBERON:0001234	99.11	gold quality
right adrenal gland	UBERON:0001233	99.00	gold quality
cortical plate	UBERON:0005343	98.98	gold quality
pituitary gland	UBERON:0000007	98.69	gold quality
placenta	UBERON:0001987	98.59	gold quality
substantia nigra pars compacta	UBERON:0001965	98.57	gold quality
adrenal gland	UBERON:0002369	98.57	gold quality
cerebellar vermis	UBERON:0004720	98.57	gold quality
embryo	UBERON:0000922	98.56	gold quality
hypothalamus	UBERON:0001898	98.42	gold quality
cerebellar cortex	UBERON:0002129	98.42	gold quality
cerebellar hemisphere	UBERON:0002245	98.39	gold quality
amygdala	UBERON:0001876	98.29	gold quality
cerebellum	UBERON:0002037	98.16	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.08	gold quality
caudate nucleus	UBERON:0001873	98.01	gold quality
adenohypophysis	UBERON:0002196	97.96	gold quality
superior vestibular nucleus	UBERON:0007227	97.94	gold quality
islet of Langerhans	UBERON:0000006	97.91	gold quality
putamen	UBERON:0001874	97.65	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.64	gold quality
amniotic fluid	UBERON:0000173	97.28	gold quality
ventral tegmental area	UBERON:0002691	97.11	gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 19.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	4093.43
E-MTAB-9154	yes	4034.73
E-MTAB-6701	yes	3062.65
E-HCAD-24	yes	2825.01
E-GEOD-81547	yes	2589.64
E-HCAD-5	yes	1268.21
E-MTAB-8221	yes	575.98
E-GEOD-130473	yes	265.32
E-HCAD-10	yes	37.96
E-MTAB-5061	yes	14.76
E-MTAB-7249	yes	11.11
E-HCAD-25	yes	10.44
E-GEOD-81608	yes	9.38
E-ANND-3	yes	9.36
E-HCAD-31	yes	7.65

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ALDOA

Upstream regulators (CollecTRI, top): AR, E2F1, E2F4

miRNA regulators (miRDB)

205 targeting PEG10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• PEG10 gene is imprinted, with preferential expression from the paternal allele. (PMID:11318613)
• placental PEG10 is downregulated at early hypoxic phase, and highly activated at 11-12 wk of gestation (PMID:12620933)
• Exogenous expression of PEG10 conferred oncogenic activity. PEG10 protein associated with SIAH1, a mediator of apoptosis, and overexpression of PEG10 decreased the cell death mediated by SIAH1. (PMID:12810624)
• Results indicate that the induction of the imprinted gene paternally expressed 10 (PEG10) may play an important role during liver regeneration or carcinogenesis of the human hepatocyte. (PMID:14576465)
• PEG10 contains two overlapping reading frames from which two proteins are translated by a -1 ribosomal frameshift mechanism. (PMID:15611116)
• Programmed -1 ribosomal frameshifting in mouse and human Peg10 genes. (PMID:15767280)
• Data show that CXCL13 and CCL19 together by means of activation of CXCR5 and CCR7 up-regulated PEG10 expression and function in leukemic B cells. (PMID:16225771)
• PEG10 is a direct target of c-MYC; findings link cancer genetics and epigenetics by showing that a classic proto-oncogene, MYC, acts directly upstream of a proliferation-positive imprinted gene, PEG10 (PMID:16423995)
• PEG10 represents a novel marker in B-cell chronic lymphocytic leukemia (PMID:17621626)
• the ORF1-2 protein of PEG10, synthesized utilizing the most efficient -1 frameshift mechanism yet documented in vivo, will have an essential function that is intrinsic to the importance of PEG10 in mammals (PMID:17942406)
• The results showed that maintaining sufficient levels of PEG10 may be important during early pregnancy. Lower levels of PEG10 might be one of reasons that underlie inevitable abortion. (PMID:18550496)
• The expression profile of hepatocelluar carcinoma tissues suggested E2Fs were involved in PEG10 regulation. (PMID:18625225)
• Evidence for translation initiation from an in-frame, upstream non-AUG (CUG) codon, and from the downstream AUG, resulting in different isoforms. (PMID:20084274)
• study provides new data on the genomic organization as well as expression and translation of PEG10, a prerequisite in order to study and understand the role of PEG10 in cancer, embryonic development and normal cell homeostasis (PMID:20084274)
• PEG10 is a probable target, acting as a driving force for amplification of the 7q21 region, and may therefore be involved in the development or progression of hepatocellular carcinomas. (PMID:20362226)
• miR-122 may be involved in regulation of PEG10 expression hepatoma cell lines. (PMID:20460050)
• In third trimester PEG10 was downregulated in fetal samples group (PMID:20484977)
• PEG10 imprinting is lost in a majority of hepatocellular carcinomas and no correlation exists between the imprinting status of PEG10 and its expression in HCC tissues. (PMID:21205473)
• Overexpression of PEG10 and TSG101 was detected in gallbladder adenocarcinoma. (PMID:21455631)
• the mRNA expression level of PEG10 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. (PMID:21767414)
• elevated expression of PEG10 is likely to be involved in the pathophysiology of preeclampsia (PMID:22137777)
• promotes migration of Burkitt’s lymphoma cells via upregulation of matrix metalloproteinase-2 and -9 (PMID:22673314)
• Results revealed that PEG10 high expression was closely associated with the TNM classification in lung cancer and is a critical indicator for poor prognosis. Also, It promotes significantly proliferation, migration and invasion of A549 lung cancer cells. (PMID:25199998)
• The downregulated expression of the imprinted gene PEG10 may be an important reason for the occurrence of preeclampsia. (PMID:25526181)
• PEG10 protein could be a potential biomarker predicting early recurrence and recurrence-free survival in HCC patients after curative resection, even in those with normal serum alpha-fetoprotein levels. (PMID:25687862)
• Knockdown of PEG10 expression by siRNA could lead to growth arrest and cell apoptosis in diffuse large B cell lymphoma cells in vitro. (PMID:25864113)
• important role in trophoblast proliferation and promotes trophoblast invasion through TIMP-1 (PMID:26680220)
• Study shows that expression level of PEG10 was significantly elevated in breast cancer tissues and associated with distant metastasis and poor clinical outcome and provides evidence that PEG10 is a crucial oncogene. (PMID:26934961)
• miR-122 suppresses PEG10 expression via direct binding to the 3’-UTR of the PEG10 transcript. (PMID:27370270)
• PEG10 expression associates with the lymph node metastasis and overall survival of hepatocellular carcinoma patients.PEG10 expression level is essential for TGF-beta1 induced epithelialmesenchymal transition. (PMID:28004118)
• Results demonstrated that an increased expression of PEG10 is associated vessel invasion, and the overall survival time of PC patients. E2F-1 mediated PEG10 overexpression promotes pancreatic cancer (PC) cell proliferation via accelerating cell cycle progression and increase migration and invasion through ERK/MMP7 pathway. These results suggest that PEG10 may serve as an oncogene in PC pathogenesis. (PMID:28193232)
• USP11 depletion suppresses cell proliferation and wound healing in lung epithelial cells, and these effects are reversed by E2F1 and PEG10 overexpression. (PMID:28992046)
• PEG10 repressed TGF-beta and BMP signaling in chondrosarcoma cells. PEG10 knockdown increased the level of phosphorylated SMAD3 and SMAD1/5/9. (PMID:29044189)
• PEG10 expression is associated with advanced clinicopathological characteristics and can be used as a prognostic biomarker in patients with solid tumors. (PMID:29727698)
• PEG10 might be a molecular target for suppressing the aggressive phenotypes of chondrosarcoma cells. (PMID:30094509)
• Results suggest that tumour susceptibility gene 101 (TSG101) is up-regulated in hepatocellular carcinoma (HCC) patients, which may accelerate the proliferation, migration and invasion of HCC cells through paternally expressed 10 protein (PEG10). (PMID:30450735)
• PEG10 knockdown inhibited cell viability, migration and invasion, induced cell apoptosis through miR-506 upregulation, as well as inactivation of Raf/MEK/ERK and JAK1/STAT3 signal pathways in human glioma cell line U251 cells (PMID:31241046)
• Declination of long noncoding RNA paternally expressed gene 10 inhibits A375 cells proliferation, migration, and invasion via mediating microRNA-33a. (PMID:31318088)
• PEG10 is expressed by prostate cancer with constitutively active AR-splice variants. (PMID:31530569)
• Study provided the first evidence that expression level of lncRNA PEG10 was significantly correlated with the advanced clinicopathological features and poor outcome in patients with gliomas. LncRNA PEG10 can be identified as an oncogenic biomarker for the relapse and clinical outcome in glioma patients. (PMID:31702614)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000109342
mus_musculus	Peg10	ENSMUSG00000092035
rattus_norvegicus	Peg10	ENSRNOG00000074356

Paralogs (10): RTL8C (ENSG00000134590), RTL3 (ENSG00000179300), LDOC1 (ENSG00000182195), RTL4 (ENSG00000187823), RTL6 (ENSG00000188636), RTL8A (ENSG00000203950), RTL8B (ENSG00000212747), RTL10 (ENSG00000215012), RTL5 (ENSG00000242732), RTL1 (ENSG00000254656)

Protein

Protein identifiers

Retrotransposon-derived protein PEG10 — Q86TG7 (reviewed: Q86TG7)

Alternative names: Embryonal carcinoma differentiation-regulated protein, Mammalian retrotransposon-derived protein 2, Myelin expression factor 3-like protein 1, Paternally expressed gene 10 protein, Retrotransposon gag domain-containing protein 3, Retrotransposon-derived gag-like polyprotein, Ty3/Gypsy-like protein

All UniProt accessions (6): A0A087WUL4, A0A087WX23, A0A087WXK2, A0A087WYS2, A0A087WZG9, Q86TG7

UniProt curated annotations — full annotation on UniProt →

Function. Retrotransposon-derived protein that binds its own mRNA and self-assembles into virion-like capsids. Forms virion-like extracellular vesicles that encapsulate their own mRNA and are released from cells, enabling intercellular transfer of PEG10 mRNA. Binds its own mRNA in the 5’-UTR region, in the region near the boundary between the nucleocapsid (NC) and protease (PRO) coding sequences and in the beginning of the 3’-UTR region. Involved in placenta formation: required for trophoblast stem cells differentiation. Involved at the immediate early stage of adipocyte differentiation. Overexpressed in many cancers and enhances tumor progression: promotes cell proliferation by driving cell cycle progression from G0/G1. Enhances cancer progression by inhibiting the TGF-beta signaling, possibly via interaction with the TGF-beta receptor ACVRL1. May bind to the 5’-GCCTGTCTTT-3’ DNA sequence of the MB1 domain in the myelin basic protein (MBP) promoter; additional evidences are however required to confirm this result.

Subunit / interactions. Homooligomer; homooligomerizes into virion-like capsids. Interacts with ACVRL1. Interacts with SIAH1 and SIAH2.

Subcellular location. Extracellular vesicle membrane. Cytoplasm. Nucleus.

Tissue specificity. Expressed in the cytotrophoblast layer but not in the overlying syncytiotrophoblast of the placenta. Expressed in prostate and breast carcinomas but not in normal breast and prostate epithelial cells. Expressed in the Hep-G2 cell line (at protein level). Expressed in brain, liver, spleen, kidney, thymus, lung, ovary, testis, reactive lymph node, skeletal muscle, adipose tissue and placenta. Expressed in pancreatic and hepatocellular carcinomas (HCC).

Post-translational modifications. Undergoes proteolytic cleavage.

Domain organisation. The protein is evolutionarily related to retrotransposon Gag proteins: it contains the capsid (CA) and nucleocapsid (NC) subdomains of gag. In addition to the capsid (CA) and nucleocapsid (NC) subdomains of gag proteins, this isoform contains subdomains of pol, namely a protease (PRO) domain and a predicted reverse transcriptase (RT)-like domain.

Induction. Expression is directly regulated by E2F1 and E2F4, which bind to its promoter and direct its expression. Up-regulated by MYC. Strongly overepressed in a number of tumors, such has hepatocellular carcinoma (HCC), pancreatic or neuroendocrine prostate cancers.

Miscellaneous. The PEG10 locus is imprinted, giving rise to paternally expressed proteins. Produced by a -1 ribosomal frameshifting due to a slippery site occurring between the codons for Gly-319 and Lys-320. The ribosomal frameshifting efficiency yield up to 66% of isoform 1 compared to isoform 2. Produced by conventional translation. Produced by alternative initiation. Translation initiates from a non-AUG codon (CUG codon). Produced by alternative initiation and ribosomal frameshifting. Produced by a -1 ribosomal frameshifting due to a slippery site occurring between the codons for Gly-395 and Lys-396. Translation initiates from a non-AUG codon (CUG codon). Produced by alternative initiation. Translation initiates from a non-AUG codon (CUG codon).

Isoforms (5)

UniProt ID	Names	Canonical?
Q86TG7-1	1, RF1/RF2	yes
Q86TG7-2	2, RF1
Q86TG7-3	3
Q86TG7-4	4
Q86TG7-5	5

RefSeq proteins (3): NP_001035242, NP_001165909, NP_001171891 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001878	Znf_CCHC	Domain
IPR021109	Peptidase_aspartic_dom_sf	Homologous_superfamily
IPR032549	RTL1/1-8/LDOC_capsid-like	Domain
IPR032567	RTL1-rel	Family
IPR036875	Znf_CCHC_sf	Homologous_superfamily
IPR043128	Rev_trsase/Diguanyl_cyclase	Homologous_superfamily
IPR043502	DNA/RNA_pol_sf	Homologous_superfamily

Pfam: PF16297

UniProt features (26 total): modified residue 5, helix 5, splice variant 4, region of interest 4, cross-link 2, compositionally biased region 2, chain 1, zinc finger region 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7LGA	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86TG7-F1	68.64	0.27

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7): 598, 611, 311, 314, 316, 321, 507

Mutagenesis-validated functional residues (1):

Position	Phenotype
370	inhibits proteolytic cleavage.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 283 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, MODULE_52, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, HORIUCHI_WTAP_TARGETS_DN, LU_IL4_SIGNALING, GCANCTGNY_MYOD_Q6, DITTMER_PTHLH_TARGETS_UP, CERVERA_SDHB_TARGETS_1_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, PRAMOONJAGO_SOX4_TARGETS_DN, CAGCTG_AP4_Q5, PATIL_LIVER_CANCER, TERAMOTO_OPN_TARGETS_CLUSTER_3

GO Biological Process (7): apoptotic process (GO:0006915), cell differentiation (GO:0030154), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), mRNA transport (GO:0051028), protein homooligomerization (GO:0051260), viral translational frameshifting (GO:0075523), vesicle-mediated intercellular transport (GO:0110077)

GO Molecular Function (7): DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA binding (GO:0003729), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular vesicle (GO:1903561), nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
nucleic acid binding	2
binding	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular developmental process	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
RNA transport	1
protein complex oligomerization	1
viral process	1
viral translation	1
intercellular transport	1
vesicle-mediated transport	1
RNA binding	1
transition metal ion binding	1
cation binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PEG10	PEG3	P78418	896
PEG10	SGCE	O43556	869
PEG10	MEST	Q5EB52	862
PEG10	GRB10	Q13322	769
PEG10	PLAGL1	Q9UM63	728
PEG10	SNRPN	P14648	705
PEG10	NNAT	Q16517	701
PEG10	NAP1L5	Q96NT1	673
PEG10	DLX6	P56179	633
PEG10	DLK1	P15803	632
PEG10	IGF2	P01344	610
PEG10	DLX5	P56178	605
PEG10	IGF2R	P11717	596
PEG10	MECP2	P51608	595
PEG10	PHLDA2	Q53GA4	592

IntAct

70 interactions, top by confidence:

A	B	Type	Score
PEG10	LDOC1	psi-mi:“MI:0915”(physical association)	0.740
LDOC1	PEG10	psi-mi:“MI:0915”(physical association)	0.740
LDOC1	PEG10	psi-mi:“MI:0914”(association)	0.740
RTL8C	PEG10	psi-mi:“MI:0915”(physical association)	0.670
PEG10	RTL8B	psi-mi:“MI:0915”(physical association)	0.670
PEG10	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.670
RTL8B	PEG10	psi-mi:“MI:0915”(physical association)	0.670
PEG10	RTL8C	psi-mi:“MI:0915”(physical association)	0.670
PEG10	LNX2	psi-mi:“MI:0915”(physical association)	0.670
PEG10	RTL8C	psi-mi:“MI:0914”(association)	0.670
LNX2	PEG10	psi-mi:“MI:0915”(physical association)	0.670
PEG10	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
SIAH1	PEG10	psi-mi:“MI:0915”(physical association)	0.560
rep	ZNF250	psi-mi:“MI:0914”(association)	0.550
IRF4	ELP1	psi-mi:“MI:0914”(association)	0.500
TOLLIP	IRAK2	psi-mi:“MI:0914”(association)	0.500
TOLLIP	PEG10	psi-mi:“MI:0915”(physical association)	0.500
rep	PEG10	psi-mi:“MI:0915”(physical association)	0.400
NPL	PEG10	psi-mi:“MI:0915”(physical association)	0.400
RNF181	PEG10	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (186): PEG10 (Two-hybrid), PEG10 (Two-hybrid), PEG10 (Two-hybrid), LDOC1 (Two-hybrid), FAM127C (Two-hybrid), PEG10 (Affinity Capture-MS), PEG10 (Affinity Capture-MS), LDOC1 (Affinity Capture-MS), USP9X (Affinity Capture-MS), FAM127A (Affinity Capture-MS), FAM127C (Affinity Capture-MS), FAM127B (Affinity Capture-MS), IQCB1 (Affinity Capture-MS), CEP290 (Affinity Capture-MS), PEG10 (Two-hybrid)

ESM2 similar proteins: A6QLK5, A6ZKI3, D2HBJ8, O15519, O94955, O95751, P0CW24, P10272, Q0V9G5, Q17QF6, Q17RB0, Q1JQ94, Q2TBA3, Q5RD56, Q5RER6, Q5XGZ2, Q63053, Q6NTR6, Q6P5G6, Q6SEH4, Q6SEH5, Q70Z35, Q7JV70, Q7K1U0, Q7LC44, Q7TPY9, Q86TG7, Q8AWC3, Q8C1C8, Q8CA95, Q8N165, Q8N635, Q8ND90, Q8QZR7, Q8TCU6, Q8VHZ4, Q8WNV3, Q96PV4, Q9BWD3, Q9BYG7

Diamond homologs: A6NKG5, A6ZKI3, O95751, Q17QF6, Q17RB0, Q1JQ94, Q505G4, Q6ICC9, Q6SEH4, Q6SEH5, Q7M732, Q7TN75, Q7TPY9, Q86TG7, Q8N8U3, Q9BWD3, Q32KG4, Q52QI2, Q5DTT4, Q5HYW3, Q6P1Y1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

409 predictions. Top by Δscore:

Variant	Effect	Δscore
7:94661139:G:GT	donor_gain	0.9900
7:94661189:G:GA	donor_gain	0.9900
7:94663332:A:AG	acceptor_gain	0.9900
7:94663333:G:GG	acceptor_gain	0.9900
7:94663333:GAA:G	acceptor_gain	0.9800
7:94661188:T:TA	donor_gain	0.9700
7:94663328:TTACA:T	acceptor_loss	0.9600
7:94663330:ACAG:A	acceptor_loss	0.9600
7:94663331:CAG:C	acceptor_loss	0.9600
7:94663332:AGA:A	acceptor_loss	0.9600
7:94663333:GA:G	acceptor_gain	0.9600
7:94663333:GAAAT:G	acceptor_gain	0.9600
7:94661192:ACCTT:A	donor_gain	0.9500
7:94663326:A:AG	acceptor_gain	0.9500
7:94668136:G:T	donor_gain	0.9400
7:94661187:GTG:G	donor_gain	0.9300
7:94663333:GAAA:G	acceptor_gain	0.9300
7:94661193:CCTTA:C	donor_gain	0.9100
7:94661194:C:G	donor_gain	0.9100
7:94661139:G:T	donor_gain	0.9000
7:94656576:GCGTG:G	donor_gain	0.8900
7:94661184:AAAGT:A	donor_gain	0.8900
7:94661186:AGT:A	donor_gain	0.8800
7:94661842:T:G	acceptor_gain	0.8800
7:94668167:A:T	donor_gain	0.8800
7:94656578:GTG:G	donor_gain	0.8700
7:94656581:G:GG	donor_gain	0.8700
7:94660904:A:AG	acceptor_gain	0.8700
7:94661156:TTTTG:T	donor_gain	0.8700
7:94665683:A:G	donor_gain	0.8700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000044170 (7:94669195 A>T), RS1000268399 (7:94661517 C>T), RS1000303465 (7:94661295 A>G), RS1000399335 (7:94655006 C>T), RS1000499309 (7:94668869 C>T), RS1000561487 (7:94663322 C>A), RS1000633057 (7:94661519 G>C), RS1000732023 (7:94656417 G>A,C,T), RS1000740190 (7:94656745 G>A,C,T), RS1001100301 (7:94666807 T>C), RS1001236027 (7:94659820 A>G), RS1001450056 (7:94667116 T>A), RS1001711726 (7:94659405 A>C), RS1001837914 (7:94662048 A>C), RS1002358508 (7:94666753 A>C,G)

Disease associations

OMIM: gene MIM:609810 | 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

112 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	6
Valproic Acid	affects expression, decreases methylation, increases expression	6
sodium arsenite	decreases expression, increases abundance, increases expression, affects expression	5
(+)-JQ1 compound	decreases expression, increases expression	4
Tetrachlorodibenzodioxin	decreases expression, increases expression	4
Particulate Matter	decreases expression, increases abundance, affects cotreatment	4
bisphenol A	affects expression, increases expression	3
Estradiol	decreases expression, increases expression, affects cotreatment	3
Cyclosporine	decreases expression	3
Cadmium Chloride	increases expression, decreases expression, increases abundance	3
methylmercuric chloride	increases expression, affects cotreatment	2
cupric chloride	decreases expression	2
Acetaminophen	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Ethanol	increases abundance, increases expression, affects cotreatment, decreases expression	2
Ethinyl Estradiol	affects expression	2
Progesterone	decreases expression, increases expression	2
Rotenone	decreases expression	2
Triclosan	increases expression, increases methylation	2
Genistein	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
geldanamycin	increases expression	1
tremortin	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2AF	Abcam HeLa PEG10 KO	Cancer cell line	Female
CVCL_TC90	HAP1 PEG10 (-) 1	Cancer cell line	Male
CVCL_XR52	HAP1 PEG10 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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