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    AK2 adenylate kinase 2 [ Homo sapiens (human) ]

    Gene ID: 204, updated on 3-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. 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
    2. Adenylate kinase 2, a mitochondrial enzyme. Bruns GA, et al. Biochem Genet, 1977 Jun. PMID 195572
    3. 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
    4. Gene order and localization of enzyme loci on the short arm of chromosome 1. Carritt B, et al. Ann Hum Genet, 1982 Oct. PMID 6961883
    5. Colorectal cancer-associated mutations impair EphB1 kinase function. Kim Y, et al. J Biol Chem, 2023 Sep. PMID 37527777, Free PMC Article

    See all (104) 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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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