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  2. POU2F3 - POU class 2 homeobox 3 Gene

POU2F3 - POU class 2 homeobox 3 Gene

中文名称:POU 2 类同源框 3

种属: Homo sapiens

同用名: PLA1; OCT11; PLA-1; Epoc-1; OCT-11; OTF-11; Skn-1a

基因 ID: 25833 | 基因类型: protein coding

关于 POU2F3

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:120,236,638-120,319,945 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 17 paralogues. Biased expression in skin (RPKM 16.5) and lung (RPKM 0.4).

功能概要

该基因编码 POU 域转录因子家族的成员。 POU 域转录因子与特定八聚体 DNA 基序结合并调节细胞类型特异性分化途径。编码的蛋白质主要在表皮中表达,并在角质形成细胞增殖和分化中起关键作用。编码的蛋白也是一种候选抑癌蛋白,该基因的异常启动子甲基化可能在宫颈癌中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical Cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

POU2F3 基因产物(2)

mRNA Protein Name
NM_001244682.2 NP_001231611.1 POU domain, class 2, transcription factor 3 isoform 2
NM_014352.4 NP_055167.2 POU domain, class 2, transcription factor 3 isoform 1

POU2F3 蛋白结构

Pou

Pou: Pou domain - N-terminal to homeobox domain (184 - 257)

Homeobox

Homeobox: Homeobox domain (282 - 338)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 436 a.a.
蛋白主名 其他名称

POU domain, class 2, transcription factor 3

POU domain transcription factor OCT11a

关联疾病

疾病名称 别名
Coronary Thrombosis

Coronary Artery Thrombosis

Ngly1-Deficiency

Deficiency Of N-Glycanase 1

Ngly1-Cddg

Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

Ngly1 Deficiency

Congenital Disorder Of Deglycosylation

Congenital Disorder Of Glycosylation Type Iv

Congenital Disorder Of Deglycosylation

Cddg

Congenital Disorder Of Glycosylation Type Iv

Cdg1v

Cervical Cancer

Cervical Cancer, Somatic

Neoplasm Of Uterine Cervix

Cervix Cancer

Uterine Cervical Neoplasm

Cervical Neoplasm

Cervix Uteri Cancer

Tumor Of The Cervix Uteri

CERCA

Uterine Cervical Cancer

Neoplasms Cervical

Uterine Cervical Neoplasms

Cervical Cancers

Cancer, Cervical, Somatic

Malignant Tumor Of Cervix

Cervix Carcinoma

Prothrombin Thrombophilia

Prothrombin G20210a Thrombophilia

Hyperprothrombinemia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Thymic Dysplasia
Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2

Hemorrhagic Disease

Hemorrhagic Disorders

Hemorrhagic Diathesis

Hemorrhagic Diseases

Bleeding Tendency

Acquired Coagulation Factor Inhibitor Disorder

Acquired Inhibitor Of Coagulation

Antithrombinaemia

Antithromboplastinogenaemia

Circulating Anticoagulant Disorder

Haemorrhagic Disorder Due To Antithrombinaemia

Haemorrhagic Disorder Due To Excess Administered Heparin

Antithromboplastinaemia

Haemorrhagic Disorder Due To Hyperheparinemia

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
Bos taurus POU2F3 VGNC VGNC:33175
Macaca mulatta POU2F3 VGNC VGNC:76078
Felis catus POU2F3 VGNC VGNC:64305
Rattus norvegicus POU2F3 RGD RGD:621691
Canis familiaris POU2F3 VGNC VGNC:44828
Mus musculus POU2F3 MGD MGI:102565