ADCK2

ADCK2
Identifiers
AliasesADCK2, AARF, aarF domain containing kinase 2
External IDsMGI: 1889336; GeneCards: ADCK2
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

90956

57869

Ensembl

ENSG00000133597

ENSMUSG00000046947

UniProt

Q7Z695

Q6NSR3

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

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

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

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

Clinical significance

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000133597 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046947 – Ensembl, 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. PMC 6780728. PMID 31480808.

Content Disclaimer

Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.

  1. The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
  2. There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
  3. It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
  4. Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
  5. Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.