• Gene id: 204

Gene Summary

• Gene Symbol: AK2   Gene   UCSC   Ensembl
• Aliases: ADK2
• Gene name: adenylate kinase 2
• Alternate names: adenylate kinase 2, mitochondrial, ATP-AMP transphosphorylase 2, ATP:AMP phosphotransferase, adenylate kinase isoenzyme 2, mitochondrial, adenylate monophosphate kinase, testis secretory sperm-binding protein Li 220n,
• Gene location: 1p35.1 (33036910: 33007939)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 103020

SNPs

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

Protein Summary

• Protein general information: P54819  
  • Name: Adenylate kinase 2, mitochondrial (AK 2) (EC 2.7.4.3) (ATP AMP transphosphorylase 2) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) [Cleaved into: Adenylate kinase 2, mitochondrial, N terminally processed]
  • Length: 239  
  • Mass: 26478
  • 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 pop
• Sequence:

  MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVS
  DEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGR
  SYHEEFNPPKEPMKDDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILA
  AFSKATCKDLVMFI

• Structural information:
  • Interpro: IPR006259  IPR000850  IPR033690  IPR007862  IPR028587   IPR027417  
  • Prosite: PS00113
  • CDD: cd01428
  • PDB: 2C9Y
  • PDBsum: 2C9Y
  • STRING: ENSP00000346921
• Other Databases: GeneCards:  AK2  Malacards:  AK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0009132	nucleoside diphosphate metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004017	adenylate kinase activity	IBA	molecular function
GO:0006172	ADP biosynthetic process	IEA	biological process
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016776	phosphotransferase activity, phosphate group as acceptor	IEA	molecular function
GO:0019205	nucleobase-containing compound kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004017	adenylate kinase activity	TAS	molecular function
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0004017	adenylate kinase activity	EXP	molecular function
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0005758	mitochondrial intermembrane space	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0046034	ATP metabolic process	IEA	biological process
GO:0006172	ADP biosynthetic process	IEA	biological process
GO:0046033	AMP metabolic process	IEA	biological process
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00730	Thiamine metabolism

Diseases

Associated diseases	References
T-B-Severe combined immunodeficiency	KEGG:H00092
Reticular dysgenesis	KEGG:H01128
T-B-Severe combined immunodeficiency	KEGG:H00092
Reticular dysgenesis	KEGG:H01128
Reticular dysgenesis	PMID:19043416
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray