POLE4 - DNA polymerase epsilon 4, accessory subunit Gene

Homo sapiens

Also known as p12; YHHQ1

Gene ID: 56655 | Gene type: protein coding

About POLE4

Cytogenetic location: 2p12 Genomic coordinates (GRCh38): 2:74,958,643-74,970,128 (from NCBI)

This gene has 6 transcripts (splice variants), 180 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 27.9), bone marrow (RPKM 20.0) and 25 other tissues.

Summary

POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

POLE4 Products(1)

mRNA	Protein	Name
NM_019896.4	NP_063949.2	DNA polymerase epsilon subunit 4

POLE4 Protein Structure

CBFD_NFYB_HMF

0
100
117 a.a.

Protein Preferred Names

Protein Names

DNA polymerase epsilon subunit 4

DNA polymerase II subunit 4

Related Diseases

Diseases

Alias

Van Esch-O'Driscoll Syndrome

X-Linked Intellectual Disability, Van Esch Type	VEODS
Mrxsveod	Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type
X-Linked Syndromic Mental Retardation Van Esch-O'Driscoll Type

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome	IMAGE
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies
Image Anomaly	Image Association
Fetal Growth Retardation	Pyle Metaphyseal Dysplasia

Heinz Body Anemias

Heinz Body Anemia	Heinz Body Anemias, Alpha-
HEIBAN	Anemia, Heinz Body
Acquired Heinz Body Anemia

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10828	POLE4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POLE4	MGD	MGI:1914229
Rattus norvegicus	POLE4	RGD	RGD:1307793
Macaca mulatta	POLE4	VGNC	VGNC:76065
Bos taurus	POLE4	VGNC	VGNC:33121
Felis catus	POLE4	VGNC	VGNC:81151

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