Contents

AK2

Mammalian protein found in Homo sapiens

AK2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2C9Y
Identifiers
Aliases	AK2, ADK2, AK 2, adenylate kinase 2
External IDs	OMIM: 103020; MGI: 87978; HomoloGene: 1227; GeneCards: AK2; OMA:AK2 - orthologs
EC number	2.7.4.3
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p35.1 Start 33,007,986 bp[1] End 33,080,996 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 62.62 cM Start 128,885,751 bp[2] End 128,905,322 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in rectum mucosa of transverse colon epithelium of colon gastrocnemius muscle right auricle left lobe of thyroid gland right lobe of thyroid gland right lobe of liver apex of heart left adrenal cortex Top expressed in right kidney jejunum brown adipose tissue duodenum crypt of lieberkuhn of small intestine proximal tubule left lobe of liver granulocyte primary oocyte white adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding phosphotransferase activity, phosphate group as acceptor kinase activity nucleobase-containing compound kinase activity ATP binding adenylate kinase activity Cellular component sperm mitochondrial sheath mitochondrial intermembrane space sperm flagellum mitochondrion mitochondrial inner membrane extracellular exosome Biological process nucleobase-containing small molecule interconversion phosphorylation nucleobase-containing compound metabolic process ADP biosynthetic process nucleotide phosphorylation AMP metabolic process ATP metabolic process nucleoside monophosphate phosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 204 11637 Ensembl ENSG00000004455 ENSMUSG00000028792 UniProt P54819 Q9WTP6 RefSeq (mRNA) NM_001199199 NM_001625 NM_013411 NM_001319139 NM_001319140 NM_001319141 NM_001319142 NM_001319143 NM_172199 NM_001033966 NM_016895 RefSeq (protein) NP_001186128 NP_001306068 NP_001306069 NP_001306070 NP_001306071 NP_001306072 NP_001616 NP_037543 NP_001029138 NP_058591 Location (UCSC) Chr 1: 33.01 – 33.08 Mb Chr 4: 128.89 – 128.91 Mb PubMed search [3] [4]
Wikidata
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Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene.^[5][6][7] The AK2 protein is found in the intermembrane space of the mitochondrion.^[8][9]

Function[edit]

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Two transcript variants encoding distinct isoforms have been identified for this gene.^[7]

AK2 deficiency[edit]

Adenylate Kinase 2 (AK2) deficiency in humans causes hematopoietic defects associated with sensorineural deafness.^[10][11] Reticular dysgenesis is an autosomal recessive form of human combined immunodeficiency. It is also characterized by an impaired lymphoid maturation and early differentiation arrest in the myeloid lineage. AK2 deficiency results in absent or a large decrease in the expression of proteins. AK2 is specifically expressed in the stria vascularis of the inner ear which indicates why individuals with an AK2 deficiency will have sensorineural deafness.^[11]

References[edit]

External links[edit]

• Human AK2 genome location and AK2 gene details page in the UCSC Genome Browser.

Further reading[edit]

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