1. Gene
  2. PEG3 - paternally expressed 3 Gene

PEG3 - paternally expressed 3 Gene

中文名称:父系表达 3

种属: Homo sapiens

同用名: PW1; ZNF904; ZSCAN24; ZKSCAN22

基因 ID: 5178 | 基因类型: protein coding

关于 PEG3

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:56,810,082-56,840,726 (from NCBI)

This gene has 18 transcripts (splice variants), 333 orthologues and 29 paralogues. Biased expression in ovary (RPKM 126.4), placenta (RPKM 67.7) and 4 other tissues.

功能概要

在人类中,ZIM2 和 PEG3 被视为两个不同的基因,尽管它们共享多个 5' 外显子和一个共同的启动子,并且两个基因都是父系表达的 (PMID:15203203) 。选择性剪接事件将它们共享的 5' 外显子与 ZIM2 独有的其余 4 个外显子或与 PEG3 独有的其余 2 个外显子连接起来。相反,在其他哺乳动物中,ZIM2 不进行印记,并且在小鼠、牛和可能的其他哺乳动物中,ZIM2 和 PEG3 基因不共享外显子。人 PEG3 蛋白属于 Kruppel C2H2 型锌指蛋白家族。 PEG3 可能在细胞增殖和 p53 介导的细胞凋亡中发挥作用。 PEG3 还在胶质瘤和卵巢细胞中显示出肿瘤抑制活性和肿瘤发生。该 PEG3 基因的可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2009 年 9 月]

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 remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated Apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]

PEG3 基因产物(27)

mRNA Protein Name
NM_001146184.2 NP_001139656.1 paternally-expressed gene 3 protein isoform 1
NM_001146185.2 NP_001139657.1 paternally-expressed gene 3 protein isoform 2
NM_001146187.2 NP_001139659.1 paternally-expressed gene 3 protein isoform 3
NM_001369717.1 NP_001356646.1 paternally-expressed gene 3 protein isoform 4
NM_001369718.1 NP_001356647.1 paternally-expressed gene 3 protein isoform 4
NM_001369719.1 NP_001356648.1 paternally-expressed gene 3 protein isoform 5
NM_001369720.1 NP_001356649.1 paternally-expressed gene 3 protein isoform 3
NM_001369721.1 NP_001356650.1 paternally-expressed gene 3 protein isoform 3
NM_001369722.1 NP_001356651.1 paternally-expressed gene 3 protein isoform 3
NM_001369723.1 NP_001356652.1 paternally-expressed gene 3 protein isoform 3
NM_001369724.1 NP_001356653.1 paternally-expressed gene 3 protein isoform 3
NM_001369725.1 NP_001356654.1 paternally-expressed gene 3 protein isoform 3
NM_001369726.1 NP_001356655.1 paternally-expressed gene 3 protein isoform 3
NM_001369727.1 NP_001356656.1 paternally-expressed gene 3 protein isoform 3
NM_001369728.1 NP_001356657.1 paternally-expressed gene 3 protein isoform 3
NM_001369729.1 NP_001356658.1 paternally-expressed gene 3 protein isoform 3
NM_001369730.1 NP_001356659.1 paternally-expressed gene 3 protein isoform 3
NM_001369731.1 NP_001356660.1 paternally-expressed gene 3 protein isoform 3
NM_001369732.1 NP_001356661.1 paternally-expressed gene 3 protein isoform 3
NM_001369733.1 NP_001356662.1 paternally-expressed gene 3 protein isoform 3
NM_001369734.1 NP_001356663.1 paternally-expressed gene 3 protein isoform 6
NM_001369735.1 NP_001356664.1 paternally-expressed gene 3 protein isoform 6
NM_001369736.1 NP_001356665.1 paternally-expressed gene 3 protein isoform 6
NM_001369737.1 NP_001356666.1 paternally-expressed gene 3 protein isoform 6
NM_001369738.1 NP_001356667.1 paternally-expressed gene 3 protein isoform 6
NM_001369739.1 NP_001356668.1 paternally-expressed gene 3 protein isoform 3
NM_006210.3 NP_006201.1 paternally-expressed gene 3 protein isoform 1

PEG3 蛋白结构

SCAN

SCAN: SCAN domain (41 - 132)

zf-C2H2_6

zf-C2H2_6: C2H2-type zinc finger (452 - 474)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (505 - 527)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (563 - 585)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (627 - 649)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (969 - 991)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1107 - 1129)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1163 - 1185)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1226 - 1247)

zf-C2HC_2

zf-C2HC_2: zinc-finger of a C2HC-type (1281 - 1302)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1332 - 1354)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1505 - 1527)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (1564 - 1586)

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  • 1588 a.a.
蛋白主名 其他名称

paternally-expressed gene 3 protein

Kruppel-type zinc finger protein

关联疾病

疾病名称 别名
Glioma
Non-Syndromic X-Linked Intellectual Disability 2

Mrx2

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]

Ureter Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Ureter

Ureteral Urothelial Cell Carcinoma

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

Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PEG3 VGNC VGNC:44413
Rattus norvegicus PEG3 RGD RGD:2323590
Bos taurus PEG3 VGNC VGNC:109388
Mus musculus PEG3 MGD MGI:104748
Others PEG3 NCBI