1. Gene
  2. APEX2 - apurinic/apyrimidinic endodeoxyribonuclease 2 Gene

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

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

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

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