ADCK2

ADCK2
Identifiers
Aliases	ADCK2, AARF, aarF domain containing kinase 2
External IDs	MGI: 1889336; HomoloGene: 49103; GeneCards: ADCK2; OMA:ADCK2 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	140,696,261 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	39,565,703 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; amniotic fluid; ; prefrontal cortex; ; mucosa of transverse colon; ; testicle; ; C1 segment; ; skin of leg; ; endothelial cell; ; skin of abdomen; ; nipple;
	Top expressed in
	islet of Langerhans; ; neural layer of retina; ; hypothalamus; ; spleen; ; ovary; ; granulocyte; ; ganglionic eminence; ; thymus; ; renal cortex; ; striatum of neuraxis;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein serine/threonine kinase activity; ATP binding; kinase activity; protein binding;
Cellular component	integral component of membrane; membrane;
Biological process	protein phosphorylation; phosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	90956
	57869
	ENSG00000133597
	ENSMUSG00000046947
	Q7Z695
	Q6NSR3
	NM_052853
	NM_178873
	NP_443085
	NP_849204
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000133597 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046947 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c "ADCK2 aarF domain containing kinase 2 [Homo sapiens (Human)] - Gene – NCBI".
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000133597 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[ncbi-5] "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.

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v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)