Human Gene AK2 (ENST00000548033.5) Description and Page Index
  Description: Homo sapiens adenylate kinase 2 (AK2), transcript variant 7, mRNA. (from RefSeq NM_001319142)
RefSeq Summary (NM_001319142): 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].
Gencode Transcript: ENST00000548033.5
Gencode Gene: ENSG00000004455.17
Transcript (Including UTRs)
   Position: hg38 chr1:33,010,478-33,036,840 Size: 26,363 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr1:33,010,829-33,036,828 Size: 26,000 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:33,010,478-33,036,840)mRNA (may differ from genome)Protein (190 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: F8VY04_HUMAN
DESCRIPTION: SubName: Full=Adenylate kinase 2, mitochondrial;
SIMILARITY: Belongs to the adenylate kinase family.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: AK2
Diseases sorted by gene-association score: reticular dysgenesis* (1721), severe combined immunodeficiency (9), whim syndrome (6), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 798.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -102.80351-0.293 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000850 - Adenylate_kin
IPR007862 - Adenylate_kinase_lid-dom

Pfam Domains:
PF00406 - Adenylate kinase
PF05191 - Adenylate kinase, active site lid

ModBase Predicted Comparative 3D Structure on F8VY04
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004017 adenylate kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019205 nucleobase-containing compound kinase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0016310 phosphorylation
GO:0046939 nucleotide phosphorylation


-  Descriptions from all associated GenBank mRNAs
  U54645 - Human adenylate kinase 2B (adk2b) gene, complete cds.
BC026705 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone IMAGE:5140193).
BC090040 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:111025 IMAGE:6471696), complete cds.
AB005622 - Homo sapiens AK2B mRNA for adenylate kinase isozyme 2, complete cds.
AK296863 - Homo sapiens cDNA FLJ61131 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3).
AK307731 - Homo sapiens cDNA, FLJ97679.
AK297036 - Homo sapiens cDNA FLJ55097 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3).
AK291676 - Homo sapiens cDNA FLJ78347 complete cds, highly similar to Homo sapiens adenylate kinase 2 (AK2), transcript variant AK2A, mRNA.
U84371 - Human adenylate kinase 2A (AK2A) mRNA, complete cds.
HM005633 - Homo sapiens clone HTL-S-220n testis secretory sperm-binding protein Li 220n mRNA, complete cds.
AB005621 - Homo sapiens AK2A mRNA for adenylate kinase isozyme 2, complete cds.
BC009405 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:15301 IMAGE:4304794), complete cds.
BC070127 - Homo sapiens adenylate kinase 2, mRNA (cDNA clone MGC:88106 IMAGE:6663039), complete cds.
AY080899 - Homo sapiens adenylate kinase 2 variant AK2C (AK2) mRNA, complete cds, alternatively spliced.
U39945 - Human adenylate kinase 2 (adk2) mRNA, complete cds.
AK295105 - Homo sapiens cDNA FLJ59886 complete cds, highly similar to Adenylate kinase isoenzyme 2, mitochondrial (EC 2.7.4.3).
KJ890650 - Synthetic construct Homo sapiens clone ccsbBroadEn_00044 AK2 gene, encodes complete protein.
KJ905139 - Synthetic construct Homo sapiens clone ccsbBroadEn_14536 AK2 gene, encodes complete protein.
KR710389 - Synthetic construct Homo sapiens clone CCSBHm_00012127 AK2 (AK2) mRNA, encodes complete protein.
KR710390 - Synthetic construct Homo sapiens clone CCSBHm_00012128 AK2 (AK2) mRNA, encodes complete protein.
KR710391 - Synthetic construct Homo sapiens clone CCSBHm_00012129 AK2 (AK2) mRNA, encodes complete protein.
AB451267 - Homo sapiens AK2 mRNA for adenylate kinase 2 isoform b, complete cds, clone: FLJ08090AAAN.
AB451394 - Homo sapiens AK2 mRNA for adenylate kinase 2 isoform b, partial cds, clone: FLJ08090AAAF.
AY080900 - Homo sapiens adenylate kinase 2 variant AK2D (AK2) mRNA, complete cds, alternatively spliced.
AK023758 - Homo sapiens cDNA FLJ13696 fis, clone PLACE2000140.
JD182837 - Sequence 163861 from Patent EP1572962.
JD545732 - Sequence 526756 from Patent EP1572962.
JD077061 - Sequence 58085 from Patent EP1572962.
JD277790 - Sequence 258814 from Patent EP1572962.
JD330210 - Sequence 311234 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: F8VY04, F8VY04_HUMAN, NM_001319142, uc009vud.1, uc009vud.2, uc009vud.3
UCSC ID: uc009vud.3
RefSeq Accession: NM_001319142
Protein: F8VY04 CCDS: CCDS81294.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.