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AK2 adenylate kinase 2 [ Homo sapiens (human) ]

Gene ID: 204, updated on 9-Dec-2018

Summary

Official Symbol
AK2provided by HGNC
Official Full Name
adenylate kinase 2provided by HGNC
Primary source
HGNC:HGNC:362
See related
Ensembl:ENSG00000004455 MIM:103020
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

Genomic context

See AK2 in Genome Data Viewer
Location:
1p35.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (33007940..33036911, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33473541..33502512, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ribosomal protein L18a pseudogene 4 Neighboring gene uncharacterized LOC105378635 Neighboring gene antizyme inhibitor 2 Neighboring gene uncharacterized LOC112268224

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

  • Homologs of the AK2 gene: The AK2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
  • Orthologs from Annotation Pipeline: 254 organisms have orthologs with human gene AK2
  • Orthologs

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
adenylate kinase activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
ADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
AMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
sperm mitochondrial sheath IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001199199.1NP_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:20196
    ADK; Adenylate kinase
  2. NM_001319139.1NP_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:1181
    adk; adenylate kinase; Reviewed
  3. NM_001319140.1NP_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:1181
    adk; adenylate kinase; Reviewed
  4. NM_001319141.1NP_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:20204
    ADK; Adenylate kinase
  5. NM_001319142.1NP_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:17187
    adk; adenylate kinase; Reviewed
  6. NM_001319143.1NP_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)
    BU625169, HY061267
    Consensus CDS
    CCDS81295.1
    UniProtKB/TrEMBL
    G3V213
    Related
    ENSP00000450109.1, ENST00000480134.5
    Conserved Domains (1) summary
    cl27057
    Location:20116
    ADK; Adenylate kinase
  7. NM_001625.3NP_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, DC422465
    Consensus CDS
    CCDS374.1
    UniProtKB/Swiss-Prot
    P54819
    UniProtKB/TrEMBL
    A0A140VK93
    Related
    ENSP00000346921.6, ENST00000354858.10
    Conserved Domains (1) summary
    pfam00406
    Location:20204
    ADK; Adenylate kinase
  8. NM_013411.4NP_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, ENST00000373449.6
    Conserved Domains (1) summary
    pfam00406
    Location:20204
    ADK; Adenylate kinase

RNA

  1. NR_134976.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    33007940..33036911 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001737036.1 RNA Sequence

  2. XR_246248.2 RNA Sequence

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