APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 Gene

Also Known as APE2; XTH2; ZGRF2; APEXL2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27301

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 References 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

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (5 - 304)

zf-GRF

zf-GRF: GRF zinc finger (467 - 514)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-131442 Alkyne-phenol 99.72% Unkown
HY-139912 Biotin-aniline 99.63% Unkown
HY-W614753 Biotin-naphthylamine 98.12% Unkown
HY-155639 Tyramide alkyne 99.50% Unkown
HY-173176 4-(2-Azidoethyl)phenol 99.89% Unkown
HY-RS00816 APEX2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18986 Apex2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25475 Apex2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others APEX2 NCBI