APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 Gene

Homo sapiens

Also known as APE2; XTH2; ZGRF2; APEXL2

Gene ID: 27301 | Gene type: protein coding

About APEX2

Cytogenetic location: Xp11.21 Genomic coordinates (GRCh38): X:55,000,363-55,009,057 (from NCBI)

This gene has 2 transcripts (splice variants), 177 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 8.8), lymph node (RPKM 8.7) and 25 other tissues.

Summary

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP Endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

APEX2 Products(2)

mRNA	Protein	Name
NM_001271748.2	NP_001258677.1	DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 2
NM_014481.4	NP_055296.2	DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

APEX2 Protein Structure

Exo_endo_phos

zf-GRF

0
100
200
300
400
518 a.a.

Protein Preferred Names

Protein Names

DNA-(apurinic or apyrimidinic site) endonuclease 2

AP endonuclease 2

APEX2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	APEX2	Q9UBZ4	MKRN3	Homo sapiens	Q13064	Y2H Array	32296183
Intra	APEX2	Q9UBZ4	MKRN3	Homo sapiens	Q13064	Y2H Prey Pooling	32296183
Intra	APEX2	Q9UBZ4	APBA2	Homo sapiens	Q99767	Anti Tag CoIP	33961781
Intra	APEX2	Q9UBZ4	APBA2	Homo sapiens	Q99767	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Autoimmune Epilepsy

La Crosse Encephalitis

California Encephalitis	California Virus Encephalitis
Neuroinvasive California Encephalitis Virus Infection	Californian Encephalitis
Encephalitis, California	California Meningoencephalitis
California Encephalitis Virus Infection	California Encephalitis Virus Infection Neuroinvasive Disease
California Meningoencephalitis Virus Disease	California Serogroup Virus Neuroinvasive Disease
California Viral Encephalitis	Ce - [California Encephalitis]
Lac - [La Crosse Encephalitis]

Hereditary Angioedema

Hereditary Angioneurotic Edema	Hereditary Angioedema Type 1
Hane	Angioedema, Hereditary
Hae	Angioedemas, Hereditary
Deficiency Of C1 Esterase Inhibitor	C1 Esterase Inhibitor Deficiency
C1 Inhibitor Deficiency	Familial Angioneurotic Edema
Hereditary Bradykinine-Induced Angioedema	Hereditary Non Histamine-Induced Angioedema
Hae 1	Hae-I
Hereditary Angioneurotic Edema Type 1	Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor
Hereditary Angioedema Types I And Ii	Hereditary Angioneurotic Oedema
Familial Angioedema	Hae - [Hereditary Angioneurotic Oedema]
Bannister Disease, Hereditary	Quincke Disease Or Oedema
Hereditary Quincke Oedema

Cockayne Syndrome B

Cockayne Syndrome Type 2	Cockayne Syndrome, Type B
Cockayne Syndrome Type Ii	CSB
Cockayne Syndrome 2	Cockayne Syndrome Type B
Ckn2	Cockayne Syndrome, Type Ii

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-155639	Tyramide alkyne		99.55%	Unkown
HY-W614753	Biotin-naphthylamine		98.31%	Unkown
HY-RS00816	APEX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	APEX2	VGNC	VGNC:37983
Mus musculus	APEX2	MGD	MGI:1924872
Bos taurus	APEX2	VGNC	VGNC:26012
Macaca mulatta	APEX2	VGNC	VGNC:69857
Felis catus	APEX2	VGNC	VGNC:59848
Rattus norvegicus	APEX2	RGD	RGD:1565983

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