PEG3 (paternally expressed 3)

Gene

• Entrez ID: 5178
• Gene name: Paternally expressed 3
• Gene symbol: PEG3
• Synonyms (NCBI Gene): PW1, ZKSCAN22, ZNF904, ZSCAN24
• Chromosome: 19
• Chromosome location: 19q13.43
• Summary: In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5` exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5` exons either with the remainin

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018787	hsa-miR-335-5p	Microarray	18185580
MIRT440005	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440005	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT1224680	hsa-miR-1236	CLIP-seq
MIRT1224681	hsa-miR-1262	CLIP-seq
MIRT1224682	hsa-miR-130a	CLIP-seq
MIRT1224683	hsa-miR-130b	CLIP-seq
MIRT1224684	hsa-miR-301a	CLIP-seq
MIRT1224685	hsa-miR-301b	CLIP-seq
MIRT1224686	hsa-miR-34b	CLIP-seq
MIRT1224687	hsa-miR-3545-3p	CLIP-seq
MIRT1224688	hsa-miR-3646	CLIP-seq
MIRT1224689	hsa-miR-3666	CLIP-seq
MIRT1224690	hsa-miR-4275	CLIP-seq
MIRT1224691	hsa-miR-4295	CLIP-seq
MIRT1224692	hsa-miR-454	CLIP-seq
MIRT1224693	hsa-miR-4671-3p	CLIP-seq
MIRT1224694	hsa-miR-4701-3p	CLIP-seq
MIRT1224695	hsa-miR-4753-3p	CLIP-seq
MIRT1224696	hsa-miR-4768-5p	CLIP-seq
MIRT1224697	hsa-miR-555	CLIP-seq
MIRT1224698	hsa-miR-1248	CLIP-seq
MIRT1224681	hsa-miR-1262	CLIP-seq
MIRT1224699	hsa-miR-3117-3p	CLIP-seq
MIRT1224700	hsa-miR-3147	CLIP-seq
MIRT1224701	hsa-miR-3169	CLIP-seq
MIRT1224702	hsa-miR-3680	CLIP-seq
MIRT1224690	hsa-miR-4275	CLIP-seq
MIRT1224703	hsa-miR-4287	CLIP-seq
MIRT1224704	hsa-miR-4425	CLIP-seq
MIRT1224705	hsa-miR-4455	CLIP-seq
MIRT1224706	hsa-miR-4685-3p	CLIP-seq
MIRT1224707	hsa-miR-4699-3p	CLIP-seq
MIRT1224694	hsa-miR-4701-3p	CLIP-seq
MIRT1224708	hsa-miR-4729	CLIP-seq
MIRT1224709	hsa-miR-4759	CLIP-seq
MIRT1224697	hsa-miR-555	CLIP-seq
MIRT1224710	hsa-miR-582-5p	CLIP-seq
MIRT1224711	hsa-miR-609	CLIP-seq
MIRT1224712	hsa-miR-616	CLIP-seq
MIRT1922908	hsa-miR-3120-5p	CLIP-seq
MIRT1922909	hsa-miR-3182	CLIP-seq
MIRT1922910	hsa-miR-3183	CLIP-seq
MIRT1922911	hsa-miR-4279	CLIP-seq
MIRT1922912	hsa-miR-4659a-3p	CLIP-seq
MIRT1922913	hsa-miR-4659b-3p	CLIP-seq
MIRT1922914	hsa-miR-4723-3p	CLIP-seq
MIRT1922908	hsa-miR-3120-5p	CLIP-seq
MIRT2293422	hsa-miR-2681	CLIP-seq
MIRT2439391	hsa-miR-3613-3p	CLIP-seq
MIRT2439392	hsa-miR-548ae	CLIP-seq
MIRT2439393	hsa-miR-548aj	CLIP-seq
MIRT2439394	hsa-miR-548am	CLIP-seq
MIRT2439395	hsa-miR-548x	CLIP-seq
MIRT2456236	hsa-miR-297	CLIP-seq
MIRT2456237	hsa-miR-3149	CLIP-seq
MIRT2456238	hsa-miR-4680-3p	CLIP-seq
MIRT2456239	hsa-miR-4724-5p	CLIP-seq
MIRT2456240	hsa-miR-561	CLIP-seq
MIRT2456237	hsa-miR-3149	CLIP-seq
MIRT2456238	hsa-miR-4680-3p	CLIP-seq
MIRT2456239	hsa-miR-4724-5p	CLIP-seq
MIRT2456240	hsa-miR-561	CLIP-seq
MIRT2591411	hsa-miR-154	CLIP-seq
MIRT2591412	hsa-miR-1914	CLIP-seq
MIRT2591413	hsa-miR-3120-3p	CLIP-seq
MIRT2591414	hsa-miR-374a	CLIP-seq
MIRT2591415	hsa-miR-374b	CLIP-seq
MIRT2591416	hsa-miR-4293	CLIP-seq
MIRT1224707	hsa-miR-4699-3p	CLIP-seq
MIRT2591417	hsa-miR-4712-3p	CLIP-seq
MIRT2591418	hsa-miR-4772-3p	CLIP-seq
MIRT2591419	hsa-miR-488	CLIP-seq
MIRT2591420	hsa-miR-596	CLIP-seq
MIRT2591421	hsa-miR-642b	CLIP-seq
MIRT2591422	hsa-miR-649	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
YY1	Unknown	18458536

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005776	Component	Autophagosome	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 601483
• HGNC: 8826
• e!Ensembl: ENSG00000198300

Protein

• UniProt ID: Q9GZU2
• Protein name: Paternally-expressed gene 3 protein (Zinc finger and SCAN domain-containing protein 24)
• Protein function: Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-ka
• PDB: 4BHX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02023	SCAN	42 → 131	SCAN domain	Domain
  PF00096	zf-C2H2	452 → 474	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	505 → 527	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	627 → 649	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	969 → 991	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1107 → 1129	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1163 → 1185	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1225 → 1247	Zinc finger, C2H2 type	Domain
  PF13913	zf-C2HC_2	1280 → 1303		Domain
  PF00096	zf-C2H2	1332 → 1354	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1564 → 1586	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, glial cells, astrocytes, embryo, placenta, testis, ovary and uterus. In the placenta it is found in the layer of villous cytotrophoblast cells while in the ovary it is found in the cells of the ovarian stroma including the theca
• Sequence:

  MLPPKHLSATKPKKSWAPNLYELDSDLTKEPDVIIGEGPTDSEFFHQRFRNLIYVEFVGP
  RKTLIKLRNLCLDWLQPETRTKEEIIELLVLEQYLTIIPEKLKPWVRAKKPENCEKLVTL
  LENYKEMYQPEDDNNSDVTSDDDMTRNRRESSPPHSVHSFSDRDWDRRGRSRDMEPRDRW
  SHTRNPRSRMPPRDLSLPVVAKTSFEMDREDDRDSRAYESRSQDAESYQNVVDLAEDRKP
  HNTIQDNMENYRKLLSLVQLAEDDGHSHMTQGHSSRSKRSAYPSTSRGLKTMPEAKKSTH
  RRGICEDESSHGVIMEKFIKDVSRSSKSGRARESSDRSQRFPRMSDDNWKDISLNKRESV
  IQQRVYEGNAFRGGFRFNSTLVSRKRVLERKRRYHFDTDGKGSIHDQKGCPRKKPFECGS
  EMRKAMSVSSLSSLSSPSFTESQPIDFGAMPYVCDECGRSFSVISEFVEHQIMHTRENLY
  EYGESFIHSVAVSEVQKSQVGGKRFECKDCGETFNKSAALAEHRKIHARGYLVECKNQEC
  EEAFMPSPTFSELQKIYGKDKFYECRVCKETFLHSSALIEHQKIHFGDDKDNEREHERER
  ERERGETFRPSPALNEFQKMYGKEKMYECKVCGETFLHSSSLKEHQKIHTRGNPFENKGK
  VCEETFIPGQSLKRRQKTYNKEKLCDFTDGRDAFMQSSELSEHQKIHSRKNLFEGRGYEK
  SVIHSGPFTESQKSHTITRPLESDEDEKAFTISSNPYENQKIPTKENVYEAKSYERSVIH
  SLASVEAQKSHSVAGPSKPKVMAESTIQSFDAINHQRVRAGGNTSEGREYSRSVIHSLVA
  SKPPRSHNGNELVESNEKGESSIYISDLNDKRQKIPARENPCEGGSKNRNYEDSVIQSVF
  RAKPQKSVPGEGSGEFKKDGEFSVPSSNVREYQKARAKKKYIEHRSNETSVIHSLPFGEQ
  TFRPRGMLYECQECGECFAHSSDLTEHQKIHDREKPSGSRNYEWSVIRSLAPTDPQTSYA
  QEQYAKEQARNKCKDFRQFFATSEDLNTNQKIYDQEKSHGEESQGENTDGEETHSEETHG
  QETIEDPVIQGSDMEDPQKDDPDDKIYECEDCGLGFVDLTDLTDHQKVHSRKCLVDSREY
  THSVIHTHSISEYQRDYTGEQLYECPKCGESFIHSSFLFEHQRIHEQDQLYSMKGCDDGF
  IALLPMKPRRNRAAERNPALAGSAIRCLLCGQGFIHSSALNEHMRLHREDDLLEQSQMAE
  EAIIPGLALTEFQRSQTEERLFECAVCGESFVNPAELADHVTVHKNEPYEYGSSYTHTSF
  LTEPLKGAIPFYECKDCGKSFIHSTVLTKHKELHLEEEEEDEAAAAAAAAAQEVEANVHV
  PQVVLRIQGLNVEAAEPEVEAAEPEVEAAEPEVEAAEPNGEAEGPDGEAAEPIGEAGQPN
  GEAEQPNGDADEPDGAGIEDPEERAEEPEGKAEEPEGDADEPDGVGIEDPEEGEDQEIQV
  EEPYYDCHECTETFTSSTAFSEHLKTHASMIIFEPANAFGECSGYIERASTSTGGANQAD
  EKYFKCDVCGQLFNDRLSLARHQNTHTG

• Sequence length: 1588

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES, PARASITIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEG3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	29186532		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29186532		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21151140, 28174297		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25560175, 32729618	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19367087	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16023706, 31420931		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	23418553		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16023706, 31420931		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choriocarcinoma	Choriocarcinoma	BEFREE	12566248, 16023706		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31413595		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	12566248		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25693006		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27523184, 29186532		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	40147358	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25201977	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25201977, 28727822		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32555395	Associate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	28471449		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	12566248		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19367087	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11260267, 11398192, 15141944, 19367087, 20064927		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19367087	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26338779	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia-Ischemia, Brain	Ischemic Encephalopathy	BEFREE	30431112		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	22561520		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21151140		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	21514414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18286529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16204080		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29344184		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10611347, 11161803, 12115734, 15647352, 16204080, 17545625, 18323853, 19888195		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16023706, 31420931		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31413595		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21151140		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36139377	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27523184, 29186532		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28727822	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	25751651		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10611347, 11260267, 12813455, 15141944, 16023706, 18286529, 20064927, 21491416, 28174297		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19202553		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19202553	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24058506, 40147358	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24158121, 24819376	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28186371		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	19367087		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	19367087	Stimulate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	21514414		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18286529		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16646087	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18286529	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16204080		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	9256446		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33319795	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10580840		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28035996	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	21514414		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	28471449		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	28471449	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29344184		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29344184		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23418553	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23418553	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	19367087		★☆☆☆☆ Found in Text Mining only