ENSG00000004455


Homo sapiens

Features
Gene ID: ENSG00000004455
  
Biological name :AK2
  
Synonyms : adenylate kinase 2 / AK2 / P54819
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p35.1
Gene start: 33007940
Gene end: 33080996
  
Corresponding Affymetrix probe sets: 205996_s_at (Human Genome U133 Plus 2.0 Array)   208967_s_at (Human Genome U133 Plus 2.0 Array)   212172_at (Human Genome U133 Plus 2.0 Array)   212173_at (Human Genome U133 Plus 2.0 Array)   212174_at (Human Genome U133 Plus 2.0 Array)   212175_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486342
Ensembl peptide - ENSP00000450109
Ensembl peptide - ENSP00000486507
Ensembl peptide - ENSP00000346921
Ensembl peptide - ENSP00000362548
Ensembl peptide - ENSP00000446849
Ensembl peptide - ENSP00000447082
Ensembl peptide - ENSP00000449003
Ensembl peptide - ENSP00000450008
NCBI entrez gene - 204     See in Manteia.
OMIM - 103020
RefSeq - NM_001199199
RefSeq - NM_001319139
RefSeq - NM_001319140
RefSeq - NM_001319141
RefSeq - NM_001319142
RefSeq - NM_001319143
RefSeq - NM_001625
RefSeq - NM_013411
RefSeq Peptide - NP_001306069
RefSeq Peptide - NP_001306071
RefSeq Peptide - NP_001306072
RefSeq Peptide - NP_001616
RefSeq Peptide - NP_037543
RefSeq Peptide - NP_001186128
RefSeq Peptide - NP_001306068
RefSeq Peptide - NP_001306070
swissprot - F8VPP1
swissprot - F8VY04
swissprot - F8VZG5
swissprot - F8W1A4
swissprot - P54819
swissprot - G3V213
swissprot - A0A140VK93
Ensembl - ENSG00000004455
  
Related genetic diseases (OMIM): 267500 - Reticular dysgenesis, 267500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ak2ENSDARG00000005926Danio rerio
 AK2ENSGALG00000003597Gallus gallus
 Ak2ENSMUSG00000028792Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AK8 / Q96MA6 / adenylate kinase 8ENSG0000016569523


Protein motifs (from Interpro)
Interpro ID Name
 IPR000850  Adenylate kinase/UMP-CMP kinase
 IPR006259  Adenylate kinase subfamily
 IPR007862  Adenylate kinase, active site lid domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR028587  Adenylate kinase 2
 IPR033690  Adenylate kinase, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006172 ADP biosynthetic process IEA
 biological_processGO:0015949 nucleobase-containing small molecule interconversion TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0046033 AMP metabolic process IEA
 biological_processGO:0046034 ATP metabolic process IEA
 biological_processGO:0046939 nucleotide phosphorylation IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space TAS
 cellular_componentGO:0036126 sperm flagellum IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097226 sperm mitochondrial sheath IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004017 adenylate kinase activity TAS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016776 phosphotransferase activity, phosphate group as acceptor IEA
 molecular_functionGO:0019205 nucleobase-containing compound kinase activity IEA


Pathways (from Reactome)
Pathway description
Interconversion of nucleotide di- and triphosphates


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000389 Chronic otitis media 
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 HP:0000778 Thymus hypoplasia "Underdevelopment of the thymus." [HPO:curators]
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 HP:0000988 Skin rash 
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 HP:0001508 Failure to thrive 
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 HP:0001824 Weight loss 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0001882 Leukopenia 
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 HP:0001888 Lymphopenia 
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 HP:0001903 Anemia 
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 HP:0001944 Dehydration 
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 HP:0001945 Fever 
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 HP:0002014 Diarrhea 
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 HP:0002024 Malabsorption 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0003287 Abnormality of mitochondrial metabolism 
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004430 Severe combined immunodeficiency "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators]
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 HP:0005354 Absent cellular immunity 
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 HP:0005374 Cellular immunodeficiency 
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 HP:0005387 Combined immunodeficiency 
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 HP:0005435 Impaired T cell function 
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 HP:0005541 Congenital agranulocytosis 
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 HP:0010515 Aplasia/Hypoplasia of the thymus "Absence or underdevelopment of the thymus." [HPO:curators]
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 HP:0100806 Sepsis 
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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