AK2

Protein identityUniProt · HPA

UniProt accession

P54819

Gene

AK2

Ensembl

ENSG00000004455

Chromosome

1

Canonical length

239 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

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. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

239 residues, UniProt reviewed canonical sequence.

>P54819|AK2
     1  MAPSVPAAEP EYPKGIRAVL LGPPGAGKGT QAPRLAENFC VCHLATGDML RAMVASGSEL
    61  GKKLKATMDA GKLVSDEMVV ELIEKNLETP LCKNGFLLDG FPRTVRQAEM LDDLMEKRKE
   121  KLDSVIEFSI PDSLLIRRIT GRLIHPKSGR SYHEEFNPPK EPMKDDITGE PLIRRSDDNE
   181  KALKIRLQAY HTQTTPLIEY YRKRGIHSAI DASQTPDVVF ASILAAFSKA TCKDLVMFI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

156 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AK2.

Disease | AllUniProt

Conditions AK2 is implicated in, by any mechanism.

• Reticular dysgenesis (RDYS) MIM:267500

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 264 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Reticular dysgenesis
• Severe combined immunodeficiency disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.22

gnomAD pLI

0

gnomAD missense Z

0.07

DepMap mean gene effect

-0.34

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ADP biosynthetic process
• AMP metabolic process
• ATP metabolic process
• nucleobase-containing small molecule interconversion

Molecular functions

• AMP kinase activity
• ATP binding

Cellular components

• cytoplasm
• extracellular exosome
• mitochondrial intermembrane space
• mitochondrion
• sperm mitochondrial sheath

Protein domainsUniProt · Pfam · InterPro

• Adenylate kinase/UMP-CMP kinase
• Adenylate kinase subfamily
• Adenylate kinase, active site lid domain
• P-loop containing nucleoside triphosphate hydrolase
• Adenylate kinase, conserved site
• Adenylate kinase
• Adenylate kinase, active site lid
• Adenylate kinase 2

KeywordsUniProt

• Acetylation
• ATP-binding
• Disulfide bond
• Kinase
• Mitochondrion
• Nucleotide-binding
• Phosphoprotein
• SCID
• Transferase