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  2. PEG10 - paternally expressed 10 Gene

PEG10 - paternally expressed 10 Gene

Homo sapiens

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

Gene ID: 23089 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15611116 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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 Reference
Intra PEG10 Q86TG7 RTL8C Homo sapiens A6ZKI3
Anti Tag CoIP
33961781
Intra PEG10 Q86TG7 RTL8C Homo sapiens A6ZKI3
Validated Y2H
25416956
Intra PEG10 Q86TG7 RTL8B Homo sapiens Q17RB0
Anti Tag CoIP
33961781
Intra PEG10 Q86TG7 RTL8B Homo sapiens Q17RB0
Y2H Prey Pooling
25416956
Intra PEG10 Q86TG7 LNX2 Homo sapiens Q8N448
Y2H Array
29892012
Intra PEG10 Q86TG7 LNX2 Homo sapiens Q8N448
Y2H Array
31515488
Intra PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137
Y2H Array
31515488
Intra PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137
Y2H Prey Pooling
25416956
Intra PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137
Validated Y2H
25416956
Intra PEG10 Q86TG7 CALCOCO2 Homo sapiens Q13137
Y2H Array
25416956
Intra PEG10 Q86TG7 LDOC1 Homo sapiens O95751
Y2H Array
31515488
Intra PEG10 Q86TG7 LDOC1 Homo sapiens O95751
Anti Tag CoIP
33961781
Intra PEG10 Q86TG7 LDOC1 Homo sapiens O95751
Y2H Prey Pooling
25416956
Intra PEG10 Q86TG7 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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