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ADCK2

From Wikipedia, the free encyclopedia
ADCK2
Identifiers
AliasesADCK2, AARF, aarF domain containing kinase 2
External IDsMGI: 1889336; HomoloGene: 49103; GeneCards: ADCK2; OMA:ADCK2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_052853

NM_178873

RefSeq (protein)

NP_443085

NP_849204

Location (UCSC)Chr 7: 140.67 – 140.7 MbChr 6: 39.55 – 39.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ADCK2 (aarF domain containing kinase 2) is an enzyme that in humans is encoded by the ADCK2 gene. It is situated on chromosome 7 at the q34 location.

Function

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ADCK2 is predicted to possess ATP binding activity and protein serine/threonine kinase activity. The protein is predicted to be an integral part of the membrane.[5]

Genomic context

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The ADCK2 gene is located on chromosome 7q34. The genomic sequence spans 22,165 base pairs from 140,672,945 to 140,695,110 on the GRCh38.p14 primary assembly. It consists of 8 exons.[5]

Expression

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ADCK2 is ubiquitously expressed across various human tissues, with notable expression in skin and brain tissue, among others.[5]

Clinical significance

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Research indicates that ADCK2 may have therapeutic implications in diseases such as myopathy.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000133597Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046947Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "ADCK2 aarF domain containing kinase 2 [Homo sapiens (Human)] - Gene – NCBI".
  6. ^ Vázquez-Fonseca, L; Schaefer, J; Navas-Enamorado, I; Santos-Ocaña, C; Hernández-Camacho, JD; Guerra, I; Cascajo, MV; Sánchez-Cuesta, A; Horvath, Z; Siendones, E; Jou, C; Casado, M; Gutiérrez, P; Brea-Calvo, G; López-Lluch, G; Fernández-Ayala, DJM; Cortés-Rodríguez, AB; Rodríguez-Aguilera, JC; Matté, C; Ribes, A; Prieto-Soler, SY; Dominguez-Del-Toro, E; Francesco, AD; Aon, MA; Bernier, M; Salviati, L; Artuch, R; Cabo, R; Jackson, S; Navas, P (2 September 2019). "ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency". Journal of Clinical Medicine. 8 (9): 1374. doi:10.3390/jcm8091374. hdl:10261/209337. PMID 31480808.