PEG10 - paternally expressed 10 Gene

Also Known as EDR; HB-1; Mar2; RTL2; MEF3L; Mart2; RGAG3; SIRH1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23089

About PEG10

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:94,656,325-94,669,695 (from NCBI)

This gene has 9 transcripts (splice variants), 274 orthologues and 10 paralogues. Biased expression in placenta (RPKM 304.5), adrenal (RPKM 114.1) and 3 other tissues.

Summary

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. [provided by RefSeq, Oct 2014]

PEG10 Products (6)

mRNA Protein Name
NM_001040152.2 NP_001035242.1 retrotransposon-derived protein PEG10 isoform 2
NM_001172437.2 NP_001165908.1 retrotransposon-derived protein PEG10 isoform 3
NM_001172438.3 NP_001165909.1 retrotransposon-derived protein PEG10 isoform 4
NM_001184961.1 NP_001171890.1 retrotransposon-derived protein PEG10 isoform 5
NM_001184962.2 NP_001171891.1 retrotransposon-derived protein PEG10 isoform 6
NM_015068.3 NP_055883.2 retrotransposon-derived protein PEG10 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15611116 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
15611116 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15611116 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PEG10 Protein Structure

Retrotrans_gag

Retrotrans_gag: Retrotransposon gag protein (120 - 211)

  • 0
  • 100
  • 200
  • 300
  • 325 a.a.
Protein Preferred Names Protein Names

retrotransposon-derived protein PEG10

  • MEF3 like 1

PEG10 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PEG10 Q86TG7 RTL8C Homo sapiens A6ZKI3 33961781
Intra
PEG10 Q86TG7 RTL8C Homo sapiens A6ZKI3 25416956
Intra
PEG10 Q86TG7 RTL8B Homo sapiens Q17RB0 33961781
Intra
PEG10 Q86TG7 RTL8B Homo sapiens Q17RB0 25416956
Intra
PEG10 Q86TG7 LNX2 Homo sapiens Q8N448 29892012
Intra
PEG10 Q86TG7 LNX2 Homo sapiens Q8N448 31515488
Intra
PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137 31515488
Intra
PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137 25416956
Intra
PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137 25416956
Intra
PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137 25416956
Intra
PEG10 Q86TG7 LDOC1 Homo sapiens O95751 31515488
Intra
PEG10 Q86TG7 LDOC1 Homo sapiens O95751 33961781
Intra
PEG10 Q86TG7 LDOC1 Homo sapiens O95751 25416956
Intra
PEG10 Q86TG7 SIAH1 Homo sapiens Q8IUQ4 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

PEG10 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81532 PEG10 Antibody (YA1277) IHC-P Human
HY-P81532A PEG10 Antibody (YA1277)(PBS only) IHC-P Human
HY-P85323 PEG10 Antibody (YA5015) WB, IHC-P Human
HY-P85450 PEG10 Antibody (YA5142) WB, ICC/IF, FC Human, Mouse, Rat
HY-P85573 PEG10 Antibody (YA5265) WB, IP Human

Related Diseases

Diseases Alias
Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

Esophageal Cancer
  • Esophageal Carcinoma

  • Carcinoma Of Esophagus

  • Esophageal Squamous Cell Carcinoma, Somatic

  • Esophageal Carcinoma, Somatic

  • Esophagus Cancer

  • Gastric Cardia Adenocarcinoma

  • Esophageal Neoplasms

  • Esophageal Cancer, Somatic

  • Cancer Of Esophagus

  • Cancer Of Oesophagus

  • Carcinoma Of Oesophagus

  • Ca Lower Third Oesophagus

  • Ca Middle Third Oesophagus

  • Malignant Neoplasm Of Distal Third Of Esophagus

  • Malignant Neoplasm Of Lower Third Of Oesophagus

  • Malignant Neoplasm Of Middle Third Of Oesophagus

  • Malignant Neoplasm Of Proximal Third Of Esophagus

  • Malignant Neoplasm Of Upper Third Esophagus

  • Malignant Tumor Of Abdominal Esophagus

  • Malignant Tumor Of Distal Third Of Esophagus

  • Malignant Tumor Of Proximal Third Of Esophagus

  • Malignant Tumor Of The Middle Third Of The Esophagus

  • ESCR

  • Aerodigestive Tract Cancer

  • Escc

  • Esophageal Squamous Cell Carcinoma

  • Cancer, Esophageal

  • Malignant Neoplasm Of Esophagus

  • Squamous Cell Carcinoma Of Esophagus

  • Malignant Neoplasm Of Middle Third Of Esophagus

B-Lymphoblastic Leukemia/Lymphoma
  • B Lymphoblastic Leukemia/Lymphoma

  • B-All

  • Precursor B Lymphoblastic Lymphoma/Leukemia

  • C-All

  • Lymphoblastic Lymphoma, Nos

  • Common Precursor B All

  • Lymphoblastic B-Cell Lymphoma

  • Pro-B All

  • B-Precursor Lymphoma

  • Lbl - [Lymphoblastic Lymphoma]

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Gallbladder Adenocarcinoma
  • Adenocarcinoma Of The Gallbladder

  • Carcinoma Of The Gallbladder

Silver-Russell Syndrome 1
  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Spastic Paraplegia 17, Autosomal Dominant
  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb

Transient Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Transient Neonatal

  • Tndm

  • Chromosome 6-Associated Transient Diabetes Mellitus

  • Dmtn

  • Diabetes Mellitus, 6q24-Related Transient Neonatal

  • Tndm1

  • Neonatal Diabetes Mellitus, Transient

  • Tndm -[Transient Neonatal Diabetes Mellitus]

Osteogenesis Imperfecta, Type Iii
  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PEG10 VGNC VGNC:50004
Canis familiaris PEG10 VGNC VGNC:49685
Mus musculus PEG10 MGD MGI:2157785
Felis catus PEG10 VGNC VGNC:102657
Rattus norvegicus PEG10 RGD RGD:1595574
Others PEG10 NCBI