Human Gene AK2 (ENST00000373449.7) Description and Page Index
  Description: Homo sapiens adenylate kinase 2 (AK2), transcript variant 2, mRNA. (from RefSeq NM_013411)
RefSeq Summary (NM_013411): 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: ENST00000373449.7
Gencode Gene: ENSG00000004455.17
Transcript (Including UTRs)
   Position: hg38 chr1:33,007,986-33,036,883 Size: 28,898 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr1:33,010,829-33,036,828 Size: 26,000 Coding Exon Count: 7 

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 (chr1:33,007,986-33,036,883)mRNA (may differ from genome)Protein (232 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KAD2_HUMAN
DESCRIPTION: RecName: Full=Adenylate kinase 2, mitochondrial; Short=AK 2; EC=2.7.4.3; AltName: Full=ATP-AMP transphosphorylase 2;
FUNCTION: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Plays a key role in hematopoiesis.
CATALYTIC ACTIVITY: ATP + AMP = 2 ADP.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion intermembrane space.
TISSUE SPECIFICITY: Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cells lack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defects caused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functional deficits (at protein level).
DISEASE: Defects in AK2 are the cause of reticular dysgenesis (RDYS) [MIM:267500]; also known as aleukocytosis. RDYS is the most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal.In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1.
SIMILARITY: Belongs to the adenylate kinase family. AK2 subfamily.

-  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
5' UTR -11.9055-0.216 Picture PostScript Text
3' UTR -856.002843-0.301 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
IPR006259 - Adenyl_kin_sub
IPR000850 - Adenylate_kin
IPR007862 - Adenylate_kinase_lid-dom

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2C9Y
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P54819
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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 orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004017 adenylate kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016776 phosphotransferase activity, phosphate group as acceptor
GO:0019205 nucleobase-containing compound kinase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0006172 ADP biosynthetic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0016310 phosphorylation
GO:0046939 nucleotide phosphorylation

Cellular Component:
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0036126 sperm flagellum
GO:0070062 extracellular exosome
GO:0097226 sperm mitochondrial sheath


-  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.
JD255085 - Sequence 236109 from Patent EP1572962.
JD093537 - Sequence 74561 from Patent EP1572962.
JD347965 - Sequence 328989 from Patent EP1572962.
JD259899 - Sequence 240923 from Patent EP1572962.
JD082752 - Sequence 63776 from Patent EP1572962.
JD181811 - Sequence 162835 from Patent EP1572962.
JD088136 - Sequence 69160 from Patent EP1572962.
JD466019 - Sequence 447043 from Patent EP1572962.
JD308510 - Sequence 289534 from Patent EP1572962.
JD088158 - Sequence 69182 from Patent EP1572962.
JD368305 - Sequence 349329 from Patent EP1572962.
JD402898 - Sequence 383922 from Patent EP1572962.
JD382957 - Sequence 363981 from Patent EP1572962.
JD322186 - Sequence 303210 from Patent EP1572962.
JD345043 - Sequence 326067 from Patent EP1572962.
JD101175 - Sequence 82199 from Patent EP1572962.
JD342864 - Sequence 323888 from Patent EP1572962.
JD060338 - Sequence 41362 from Patent EP1572962.
JD047085 - Sequence 28109 from Patent EP1572962.
JD242118 - Sequence 223142 from Patent EP1572962.
JD491093 - Sequence 472117 from Patent EP1572962.
JD227305 - Sequence 208329 from Patent EP1572962.
JD227306 - Sequence 208330 from Patent EP1572962.
JD382208 - Sequence 363232 from Patent EP1572962.
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.
JD426078 - Sequence 407102 from Patent EP1572962.
JD533333 - Sequence 514357 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein P54819 (Reactome details) participates in the following event(s):

R-HSA-110144 ADP + ADP <=> AMP + ATP [AK2]
R-HSA-110145 AMP + ATP <=> ADP + ADP [AK2]
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6L1, ADK2, B4DHH7, B4DL64, KAD2_HUMAN, NM_013411, P54819, Q16856, Q5EB54, Q5TIF7, Q8TCY2, Q8TCY3, uc001bwo.1, uc001bwo.2, uc001bwo.3, uc001bwo.4
UCSC ID: uc001bwo.4
RefSeq Accession: NM_013411
Protein: P54819 (aka KAD2_HUMAN)
CCDS: CCDS374.1, CCDS81296.1, CCDS373.1

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