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Aliases for AK2 Gene

Aliases for AK2 Gene

  • Adenylate Kinase 2 2 3 5
  • Adenylate Monophosphate Kinase 3 4
  • ATP-AMP Transphosphorylase 2 3 4
  • ATP:AMP Phosphotransferase 3 4
  • EC 2.7.4.3 4 58
  • ADK2 3 4
  • Testis Secretory Sperm-Binding Protein Li 220n 3
  • Adenylate Kinase Isoenzyme 2, Mitochondrial 3
  • Adenylate Kinase 2, Mitochondrial 3
  • EC 2.7.4 58
  • AK 2 4

External Ids for AK2 Gene

Previous GeneCards Identifiers for AK2 Gene

  • GC01M033294
  • GC01M032427
  • GC01M032901
  • GC01M033144
  • GC01M033246
  • GC01M033474
  • GC01M031590
  • GC01M033476

Summaries for AK2 Gene

Entrez Gene Summary for AK2 Gene

  • 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]

GeneCards Summary for AK2 Gene

AK2 (Adenylate Kinase 2) is a Protein Coding gene. Diseases associated with AK2 include Reticular Dysgenesis and Severe Combined Immunodeficiency. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include adenylate kinase activity and phosphotransferase activity, phosphate group as acceptor. An important paralog of this gene is AK8.

UniProtKB/Swiss-Prot for AK2 Gene

  • Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.

Gene Wiki entry for AK2 Gene

Additional gene information for AK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AK2 Gene

Genomics for AK2 Gene

Regulatory Elements for AK2 Gene

Enhancers for AK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H032988 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +89.7 89718 6 HDGF PKNOX1 ATF1 ARNT ZFP64 SIN3A YBX1 ZNF766 GLIS2 ATF7 RNF19B ENSG00000239670 AZIN2 AK2 ENSG00000236065 ENSG00000276645
GH01H033046 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +31.9 31916 4 ELF3 TBP ATF1 NFRKB DNMT3B RAD21 RFX5 EGR1 RCOR1 FOS RNF19B ENSG00000239670 AK2 AZIN2 FNDC5 PIR48800 ENSG00000276645
GH01H032939 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +140.2 140156 3 HDAC1 ATF1 TBL1XR1 TCF12 ZNF766 GATA2 EGR1 FOS CREM EGR2 RNF19B TMEM54 FNDC5 AK2 AZIN2 GC01M032924 GC01P032965
GH01H033044 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +35.4 35447 1 HDAC1 PKNOX1 ATF1 MLX INSM2 GATA2 ZNF366 ATF7 CREM CEBPB ENSG00000239670 AZIN2 AK2 RNF19B FNDC5 PHC2 PIR48800 ENSG00000276645
GH01H032262 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +815.6 815609 4 ZNF493 ZFP64 RARA SCRT2 ZNF654 ZNF680 ZC3H11A CEBPB OVOL3 REST TXLNA RBBP4 KHDRBS1 SNRNP40 TMEM39B ZBTB8A ZNF362 DCDC2B TSSK3 S100PBP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AK2 on UCSC Golden Path with GeneCards custom track

Promoters for AK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004462 -204 1201 TBP PKNOX1 ARID4B SIN3A BMI1 HSF1 FOS THAP11 SP3 ZBTB2

Genomic Location for AK2 Gene

Chromosome:
1
Start:
33,007,940 bp from pter
End:
33,080,996 bp from pter
Size:
73,057 bases
Orientation:
Minus strand

Genomic View for AK2 Gene

Genes around AK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK2 Gene

Proteins for AK2 Gene

  • Protein details for AK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54819-KAD2_HUMAN
    Recommended name:
    Adenylate kinase 2, mitochondrial
    Protein Accession:
    P54819
    Secondary Accessions:
    • A8K6L1
    • B4DHH7
    • B4DL64
    • Q16856
    • Q5EB54
    • Q5TIF7
    • Q8TCY2
    • Q8TCY3

    Protein attributes for AK2 Gene

    Size:
    239 amino acids
    Molecular mass:
    26478 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AK2 Gene

    Alternative splice isoforms for AK2 Gene

neXtProt entry for AK2 Gene

Selected DME Specific Peptides for AK2 Gene

P54819:
  • EKLDSVIEF
  • VLLGPPG
  • KDDITGE
  • SGSELGK
  • LIRRSDD
  • ASGSELG
  • VFASILAAFS
  • PGAGKGT
  • LDGFPRT
  • RITGRLIHP
  • AYHTQTTPL
  • CHLATGDMLR
  • MDAGKLV
  • AGKGTQA
  • GFLLDGFPRT
  • NGFLLDG
  • DDITGEPL
  • LDGFPRTV
  • SGRSYHEEF
  • GPPGAGKGT

Post-translational modifications for AK2 Gene

  • Ubiquitination at Lys28 and posLast=9393
  • Modification sites at PhosphoSitePlus

Domains & Families for AK2 Gene

Gene Families for AK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54819

UniProtKB/Swiss-Prot:

KAD2_HUMAN :
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
  • Belongs to the adenylate kinase family. AK2 subfamily.
Domain:
  • Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK2 subfamily.
genes like me logo Genes that share domains with AK2: view

Function for AK2 Gene

Molecular function for AK2 Gene

GENATLAS Biochemistry:
adenylate kinase 2,mitochondrial intermembrane space,two isoforms AK2A (26.5kDa),AK2B (25.6kDa),strongly expressed in liver,skeletal muscle,heart,kidney,adenine and guanine nucleotide pool homeostasis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + AMP = 2 ADP.
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.

Enzyme Numbers (IUBMB) for AK2 Gene

Phenotypes From GWAS Catalog for AK2 Gene

Gene Ontology (GO) - Molecular Function for AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004017 adenylate kinase activity TAS,EXP 6182143
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016776 phosphotransferase activity, phosphate group as acceptor IEA --
genes like me logo Genes that share ontologies with AK2: view
genes like me logo Genes that share phenotypes with AK2: view

Human Phenotype Ontology for AK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AK2

CRISPR Products

miRNA for AK2 Gene

miRTarBase miRNAs that target AK2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK2
  • Applied Biological Materials Clones for AK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AK2 Gene

Localization for AK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK2 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AK2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space TAS --
GO:0036126 sperm flagellum IEA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with AK2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AK2 Gene

Pathways & Interactions for AK2 Gene

genes like me logo Genes that share pathways with AK2: view

Gene Ontology (GO) - Biological Process for AK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006172 ADP biosynthetic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0016310 phosphorylation IEA --
GO:0046033 AMP metabolic process IEA --
genes like me logo Genes that share ontologies with AK2: view

No data available for SIGNOR curated interactions for AK2 Gene

Drugs & Compounds for AK2 Gene

(6) Drugs for AK2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adefovir Dipivoxil Approved, Investigational Pharma Enzyme, substrate 126
Tenofovir disoproxil Approved, Investigational Pharma Enzyme, substrate 0
Adenosine monophosphate Approved Nutra 0
Imidazole Experimental Pharma Target 36
Bis(Adenosine)-5'-Pentaphosphate Experimental Pharma Target 0

(5) Additional Compounds for AK2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenylate
  • 2'-Deoxy-5'-adenylic acid
  • 2'-Deoxy-Adenosine 5'-phosphorate
  • 2'-Deoxy-Adenosine 5'-phosphoric acid
653-63-4
genes like me logo Genes that share compounds with AK2: view

Transcripts for AK2 Gene

Unigene Clusters for AK2 Gene

Adenylate kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AK2
  • Applied Biological Materials Clones for AK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AK2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6: - - - -
SP7:
SP8: -
SP9:

Relevant External Links for AK2 Gene

GeneLoc Exon Structure for
AK2
ECgene alternative splicing isoforms for
AK2

Expression for AK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AK2 Gene

Protein differential expression in normal tissues from HIPED for AK2 Gene

This gene is overexpressed in Liver, secretome (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AK2 Gene



Protein tissue co-expression partners for AK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AK2 Gene:

AK2

SOURCE GeneReport for Unigene cluster for AK2 Gene:

Hs.470907

mRNA Expression by UniProt/SwissProt for AK2 Gene:

P54819-KAD2_HUMAN
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).

Evidence on tissue expression from TISSUES for AK2 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(3.7)
  • Skin(3.6)
  • Kidney(3.3)
  • Intestine(3.2)
  • Eye(3.1)
  • Blood(2.5)
  • Pancreas(2.4)
  • Heart(2.3)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • ear
  • head
  • middle ear
Thorax:
  • thymus
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • bone marrow
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with AK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AK2 Gene

Orthologs for AK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AK2 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia AK2 33 34
  • 91.63 (n)
cow
(Bos Taurus)
Mammalia AK2 33 34
  • 91.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AK2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ak2 33 16 34
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Ak2 33
  • 87.17 (n)
oppossum
(Monodelphis domestica)
Mammalia AK2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves AK2 33 34
  • 78.61 (n)
lizard
(Anolis carolinensis)
Reptilia AK2 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ak2 33
  • 69.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia ak2-prov 33
zebrafish
(Danio rerio)
Actinopterygii ak2 33 34
  • 73.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9683 33
fruit fly
(Drosophila melanogaster)
Insecta Adk2 35 33 34
  • 62.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta KAD2_ANOGA 33
  • 59.69 (n)
worm
(Caenorhabditis elegans)
Secernentea C29E4.8 35
  • 65 (a)
let-754 33 34
  • 59.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR187W 33
  • 58.68 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13376g 33
  • 56.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK1 33 34 36
  • 55.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50370 33
  • 57.31 (n)
soybean
(Glycine max)
eudicotyledons Gma.5111 33
rice
(Oryza sativa)
Liliopsida Os11g0312400 33
  • 56.13 (n)
Os.7990 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01550 33
  • 56.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes adk1 33
  • 56.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3935 34
  • 54 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10398 33
Species where no ortholog for AK2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AK2 Gene

ENSEMBL:
Gene Tree for AK2 (if available)
TreeFam:
Gene Tree for AK2 (if available)

Paralogs for AK2 Gene

Paralogs for AK2 Gene

(5) SIMAP similar genes for AK2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for AK2 Gene

genes like me logo Genes that share paralogs with AK2: view

Variants for AK2 Gene

Sequence variations from dbSNP and Humsavar for AK2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs267606643 Pathogenic, Reticular dysgenesis (RDYS) [MIM:267500] 33,014,526(-) GAAAG(A/G)TGACG nc-transcript-variant, reference, synonymous-codon, missense
rs267606648 Pathogenic, Reticular dysgenesis (RDYS) [MIM:267500] 33,021,616(-) TCCCT(A/C/T)GGACT nc-transcript-variant, reference, synonymous-codon, missense
rs137853206 Pathogenic 33,036,828(-) CGGAC(A/G)TGGCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs267606644 Pathogenic 33,013,353(-) GGCCT(A/T)GAAAA nc-transcript-variant, reference, utr-variant-3-prime, stop-gained
rs267606645 Pathogenic 33,013,345(-) AAATC(C/T)GCCTG nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AK2 Gene

Variant ID Type Subtype PubMed ID
esv2080204 CNV deletion 18987734
esv2326918 CNV deletion 18987734
esv2746574 CNV deletion 23290073
esv3560471 CNV deletion 23714750
esv3576805 CNV gain 25503493
esv7538 CNV loss 19470904
nsv509169 CNV insertion 20534489
nsv545962 CNV loss 21841781
nsv834602 CNV loss 17160897
nsv945874 CNV duplication 23825009

Variation tolerance for AK2 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AK2 Gene

Human Gene Mutation Database (HGMD)
AK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AK2 Gene

Disorders for AK2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for AK2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
reticular dysgenesis
  • aleukocytosis
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
whim syndrome
  • warts, hypogammaglobulinemia, infections, and myelokathexis
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search AK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KAD2_HUMAN
  • Reticular dysgenesis (RDYS) [MIM:267500]: A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, 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 immunity, 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. Inheritance is autosomal recessive. {ECO:0000269 PubMed:19043416, ECO:0000269 PubMed:19043417}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AK2

Genetic Association Database (GAD)
AK2
Human Genome Epidemiology (HuGE) Navigator
AK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AK2
genes like me logo Genes that share disorders with AK2: view

No data available for Genatlas for AK2 Gene

Publications for AK2 Gene

  1. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (PMID: 19043417) Pannicke U … Schwarz K (Nature genetics 2009) 3 4 22 60
  2. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. (PMID: 19043416) Lagresle-Peyrou C … Cavazzana-Calvo M (Nature genetics 2009) 3 4 22 60
  3. Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. (PMID: 9504408) Lee Y … Choe IS (Journal of biochemistry 1998) 3 4 22 60
  4. cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2. (PMID: 9434148) Noma T … Nakazawa A (Biochimica et biophysica acta 1998) 3 4 22 60
  5. Cloning and characterization of cDNA for human adenylate kinase 2A. (PMID: 8843353) Lee Y … Choe IS (Biochemistry and molecular biology international 1996) 2 3 4 60

Products for AK2 Gene

  • Addgene plasmids for AK2

Sources for AK2 Gene

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