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AK2 adenylate kinase 2 [ Homo sapiens (human) ]

Gene ID: 204, updated on 2-Nov-2024

Summary

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Official Symbol
AK2provided by HGNC
Official Full Name
adenylate kinase 2provided by HGNC
Primary source
HGNC:HGNC:362
See related
Ensembl:ENSG00000004455 MIM:103020; AllianceGenome:HGNC:362
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADK2
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 27.8), small intestine (RPKM 20.9) and 25 other tissues See more
Orthologs
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Genomic context

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See AK2 in Genome Data Viewer
Location:
1p35.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (33007940..33036883, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32867728..32896675, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33473541..33502484, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:33446166-33447365 Neighboring gene ribosomal protein L18a pseudogene 4 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 702 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:33457814-33458330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 705 Neighboring gene Sharpr-MPRA regulatory region 15304 Neighboring gene uncharacterized LOC124903969 Neighboring gene uncharacterized LOC105378635

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis. Köhler C, et al. FEBS Lett, 1999 Mar 19. PMID 10218571
  2. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. Chou J, et al. J Allergy Clin Immunol, 2020 Jul. PMID 31862378
  3. AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. Six E, et al. Cell Death Dis, 2015 Aug 13. PMID 26270350, Free PMC Article
  4. Reticular dysgenesis caused by an intronic pathogenic variant in AK2. Ichikawa S, et al. Cold Spring Harb Mol Case Stud, 2020 Jun. PMID 32532877, Free PMC Article
  5. Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors. Oshima K, et al. Biochem Biophys Res Commun, 2018 Mar 4. PMID 29462620

See all (103) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome.
    Title: NSD2 drives t(4;14) myeloma cell dependence on adenylate kinase 2 by diverting one-carbon metabolism to the epigenome.
  2. Colorectal cancer-associated mutations impair EphB1 kinase function.
    Title: Colorectal cancer-associated mutations impair EphB1 kinase function.
  3. Adenylate kinase 2 is a biomarker related to the prognosis of glioma and the immune microenvironment.
    Title: Adenylate kinase 2 is a biomarker related to the prognosis of glioma and the immune microenvironment.
  4. AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis.
    Title: AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis.
  5. Adenylate kinase 2 expression and addiction in T-ALL.
    Title: Adenylate kinase 2 expression and addiction in T-ALL.
  6. Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
    Title: Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
  7. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
    Title: Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
  8. Prognostic and therapeutic potential of Adenylate kinase 2 in lung adenocarcinoma.
    Title: Prognostic and therapeutic potential of Adenylate kinase 2 in lung adenocarcinoma.
  9. Methylation on AK2 is associated with the development of anti-tuberculosis drug-induced liver injury.
    Title: Genome-Wide Analysis of DNA Methylation and Antituberculosis Drug-Induced Liver Injury in the Han Chinese Population.
  10. Genetic variants of AK2 activates tenofovir for HIV therapy.
    Title: Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Reticular dysgenesis
MedGen: C0272167 OMIM: 267500 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of adenylate kinase 2 (AK2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate kinase activity EXP
Inferred from Experiment
more info
 PubMed 
enables adenylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ADP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in AMP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ATP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
  
involved_in nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrial intermembrane space TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm mitochondrial sheath IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adenylate kinase 2, mitochondrial
Names
ATP-AMP transphosphorylase 2
ATP:AMP phosphotransferase
adenylate kinase isoenzyme 2, mitochondrial
adenylate monophosphate kinase
testis secretory sperm-binding protein Li 220n
NP_001186128.1
NP_001306068.1
NP_001306069.1
NP_001306070.1
NP_001306071.1
NP_001306072.1
NP_001616.1
NP_037543.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016269.1 RefSeqGene

    Range
    4981..33952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_133

mRNA and Protein(s)

  1. NM_001199199.3 → NP_001186128.1  adenylate kinase 2, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001186128.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK296863, AL020995, BC090040, DB206302, DC422465
    UniProtKB/Swiss-Prot
    P54819
    Conserved Domains (1) summary
    pfam00406
    Location:20 → 196
    ADK; Adenylate kinase

  2. NM_001319139.3 → NP_001306068.1  adenylate kinase 2, mitochondrial isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence as well as the 3' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL020995, BC090040, BQ889289, DC422465
    UniProtKB/Swiss-Prot
    P54819
    Conserved Domains (1) summary
    PRK00279
    Location:1 → 181
    adk; adenylate kinase; Reviewed

  3. NM_001319140.2 → NP_001306069.1  adenylate kinase 2, mitochondrial isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AK295105, AL020995, DC422465
    UniProtKB/Swiss-Prot
    P54819
    Conserved Domains (1) summary
    PRK00279
    Location:1 → 181
    adk; adenylate kinase; Reviewed

  4. NM_001319141.3 → NP_001306070.1  adenylate kinase 2, mitochondrial isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (f) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL020995, AL557311, HY061267
    Consensus CDS
    CCDS81296.1
    UniProtKB/TrEMBL
    F8W1A4
    Related
    ENSP00000447082.1, ENST00000467905.5
    Conserved Domains (1) summary
    pfam00406
    Location:20 → 204
    ADK; Adenylate kinase

  5. NM_001319142.3 → NP_001306071.1  adenylate kinase 2, mitochondrial isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (g) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK307731, AL020995, DC422465
    Consensus CDS
    CCDS81294.1
    UniProtKB/TrEMBL
    F8VY04
    Related
    ENSP00000449003.1, ENST00000548033.5
    Conserved Domains (1) summary
    PRK00279
    Location:17 → 187
    adk; adenylate kinase; Reviewed

  6. NM_001319143.2 → NP_001306072.1  adenylate kinase 2, mitochondrial isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has a shorter 3' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (h) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL020995, BU625169, HY061267
    Consensus CDS
    CCDS81295.1
    UniProtKB/TrEMBL
    B4DLK2, G3V213
    Related
    ENSP00000450109.1, ENST00000480134.5
    Conserved Domains (1) summary
    pfam00406
    Location:20 → 116
    ADK; Adenylate kinase

  7. NM_001625.4 → NP_001616.1  adenylate kinase 2, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_001616.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as AK2A, encodes the longest isoform (a).
    Source sequence(s)
    AL020995, BC070127, DC409829
    Consensus CDS
    CCDS374.1
    UniProtKB/Swiss-Prot
    A8K6L1, B4DHH7, B4DL64, P54819, Q16856, Q5EB54, Q5TIF7, Q8TCY2, Q8TCY3
    UniProtKB/TrEMBL
    A0A140VK93
    Related
    ENSP00000499935.1, ENST00000672715.1
    Conserved Domains (1) summary
    pfam00406
    Location:20 → 204
    ADK; Adenylate kinase

  8. NM_013411.5 → NP_037543.1  adenylate kinase 2, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_037543.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as AK2B, differs in the 3' UTR and coding sequence compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AB005622, AL020995, BC090040, DB206302, DC422465
    Consensus CDS
    CCDS373.1
    UniProtKB/Swiss-Prot
    P54819
    Related
    ENSP00000362548.2, ENST00000373449.7
    Conserved Domains (1) summary
    pfam00406
    Location:20 → 204
    ADK; Adenylate kinase

RNA

  1. NR_134976.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate exon and differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL020995, DC422465, DN601721

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    33007940..33036883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    32867728..32896675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172199.1: Suppressed sequence

    Description
    NM_172199.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54819.2 GenPept UniProtKB/Swiss-Prot:P54819

Gene LinkOut

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