AK2 Gene
protein-coding GIFtS: 71
GCID: GC01M033476
|
|
adenylate kinase 2
| |
Aliases
for AK2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Adenylate Kinase 21 2 | | EC 2.7.4.33 8 | | ADK22 3 | | Adenylate Kinase 2, Mitochondrial2 | | AK 22 3 | | Adenylate Kinase Isoenzyme 2, Mitochondrial2 | | ATP-AMP Transphosphorylase 22 3 | | EC 2.7.48 |
Export aliases for AK2 gene to outside databasesPrevious GC identifers: GC01M033294 GC01M032427 GC01M032901 GC01M032977 GC01M033144 GC01M033246 GC01M033474 GC01M031590 |
Summaries
for AK2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AK2:
Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing thereversible 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 istissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and mayplay a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results inmultiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.(provided by RefSeq, Nov 2010)
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitousenzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Playsa key role in hematopoiesis
Gene Wiki entry for AK2
|
Genomic Views
for AK2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AK2 gene promoter:
ER-alpha RORalpha1 AML1a Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for AK2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AK2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p35.1 HGNC cytogenetic band: 1p35.1AK2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M033476: view genomic region
(about GC identifiers)
Start:
|
33,473,585 bp from pter |
End:
|
33,546,597 bp from pter |
Size:
|
73,013 bases |
Orientation:
|
minus strand |
|
Proteins
for AK2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819 (See
protein sequence)Recommended Name: Adenylate kinase 2, mitochondrial Size: 239 amino acids; 26478 Da
Subunit: Monomer (By similarity)
Subcellular location: Mitochondrion intermembrane space
1 PDB 3D structure from  and Proteopedia  for AK2:2C9Y (3D)
Secondary accessions: A8K6L1 B4DHH7 B4DL64 Q16856 Q5EB54 Q5TIF7 Q8TCY2 Q8TCY3Alternative splicing: 6 isoforms: P54819-1 P54819-2 P54819-3 P54819-4 P54819-5 P54819-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AK2: NX_P54819
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P54819
4/20 DME Specific Peptides for AK2 (P54819) (see all 20)
AK2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001186128.1 NP_001616.1 NP_037543.1
ENSEMBL proteins: ENSP00000362548 ENSP00000449003 ENSP00000447082 ENSP00000450109 ENSP00000346921 ENSP00000450008 ENSP00000446849 Reactome Protein details: P54819
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
AK2 for ontologies About GeneDecksing
AK2 Antibody Products:
Assay Products for AK2: |
Protein
Domains /
Families
for AK2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AK2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P54819ProtoNet protein and cluster: P54819 1 Blocks protein family: IPB000850 Adenylate kinase
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819Similarity: Belongs to the adenylate kinase family. AK2 subfamily |
Function
for AK2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitousenzyme involved in energy metabolism and nucleotide synthesis that is essential for maintenance and cell growth. Playsa key role in hematopoiesisCatalytic activity: ATP + AMP = 2 ADP Genatlas biochemistry entry for AK2:adenylate kinase 2,mitochondrial intermembrane space,two isoforms AK2A (26.5kDa),AK2B (25.6kDa),strongly expressed inliver,skeletal muscle,heart,kidney,adenine and guanine nucleotide pool homeostasis
Enzyme Numbers (IUBMB): EC 2.7.4.31 2 EC 2.7.42
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): AK2 (NM_013411) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AK2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK2 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004017 | adenylate kinase activity |
IEA | -- | | GO:0005524 | ATP binding |
IEA | -- | | GO:0019205 | nucleobase-containing compound kinase activity |
-- | -- |
AK2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for AK2:
Animal Models:
1 MGI phenotypic allele  for Ak2 (no phenotypes)
AK2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for AK2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | ATP/ITP metabolism | | | 3 | Synthesis and interconversion of nucleotide di- and triphosphates | | | 4 | Tenofovir/Adefovir Pathway, Pharmacokinetics | | | 5 | AMPK Enzyme Complex Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for AK2
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AK2
1  GeneGo (Thomson Reuters) Pathway for AK2
3 
Reactome Pathways for AK2
1  PharmGKB Pathway for AK2
2 
Kegg Pathways (Kegg details for AK2):
AK2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AK2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/165 Interacting proteins for AK2 (P548193 ENSP000003469214) via UniProtKB, MINT, STRING, and/or I2D (see all 165)About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001889 | liver development |
IEA | -- | | GO:0006119 | oxidative phosphorylation |
IEA | -- | | GO:0006139 | nucleobase-containing compound metabolic process |
-- | -- | | GO:0006172 | ADP biosynthetic process |
IEA | -- | | GO:0007420 | brain development |
IEA | -- |
AK2 for ontologies About GeneDecksing
|
Drugs & Compounds
for AK2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
AK2 for compounds About GeneDecksing
 Browse Tocris compounds for AK2
5 HMDB Compounds for AK2 About this table
1 DrugBank Compound for AK2 About this table
4 Novoseek chemical compound relationships for AK2 gene About this table
Search CenterWatch for drugs/clinical trials and news about AK2 / KAD2
|
Transcripts
for AK2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AK2 gene (3 alternative transcripts): NM_001199199.1 NM_001625.3 NM_013411.4 Unigene Cluster for AK2: Adenylate kinase 2 Hs.470907 [show with all ESTs]Unigene Representative Sequence: NR_03759113 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000373449(uc001bwq.2 uc010ohq.2 uc001bwo.2 uc009vud.2)
ENST00000548033 ENST00000482191 ENST00000491241 ENST00000467905 ENST00000480134
ENST00000354858(uc010ohr.2 uc001bwp.2) ENST00000550338 ENST00000469238
ENST00000466029 ENST00000487289 ENST00000548559 ENST00000551979
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): AK2 (NM_013411) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AK2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK2 |
Additional cDNA sequence: AB005621.1 AB005622.1 AB451267.1 AB451394.1 AK291676.1 AK295105.1 AK296863.1 AK307731.1 AY080899.1 AY080900.1 BC009405.2 BC026705.1 BC070127.1 BC090040.1 NR_037591.1 NR_037592.1 U39945.1 U54645.1 U84371.1 24/33 DOTS entries (see all 33): DT.95269824 DT.454355 DT.100880045 DT.100880044 DT.100880058 DT.100880040 DT.100695057 DT.100880060 DT.100880047 DT.120221 DT.121374433 DT.100880039 DT.121356518 DT.91889844 DT.86855239 DT.121356520 DT.121356540 DT.450608 DT.100880051 DT.121356512 DT.100683923 DT.100880056 DT.100880061 DT.121356465 24/848 AceView cDNA sequences (see all 848): AA962473 NM_172199 AA384834 BU730655 BQ962840 CB306890 BQ881950 BU152978 AW514066 BX443042 T32508 BI760807 AA148910 AA769717 AI140232 AI127252 BC026705 BM799755 BQ030033 BF175644 BI117658 BQ028348 BM693251 BQ941727
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for AK2 (see all 9) About this scheme
| 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: | | | | | | | | | | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AK2
|
Expression
for AK2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AK2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAGACTTG
About this image
See AK2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AK2
SOURCE GeneReport for Unigene cluster: Hs.470907
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819Tissue specificity: Present in most tissues. Present at high level in heart, liver and kidney, and at low level inbrain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present inall nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cellslack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defectscaused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functionaldeficits (at protein level)
SABiosciences Custom PCR Arrays for AK2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AK2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat AK2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AK2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AK2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK2 |
Orthologs
for AK2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for AK2 gene from 10/45 species (see all 45) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
AK21 |
adenylate kinase 2 |
78.29(n)
86.7(a) |
|
428227 XM_425786.3 XP_425786.2 |
lizard
(Anolis carolinensis) |
Reptilia |
AK26 |
-- |
88(a) |
1 ↔ 1 |
GL343711.1(1620-4185) |
African clawed frog
(Xenopus laevis) |
Amphibia |
ak2-prov2 |
Adenylate kinase 2 |
77.54(n) |
|
BC041509.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC053160.12 |
-- |
77.25(n) |
|
BC053160.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Adk21 , 3 |
adenylate kinase3
Adenylate kinase-21 |
65(a)3
62.15(n)1
65.94(a)1 |
|
60B33
378341 NM_079112.31 NP_523836.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
C29E4.83
let-7541 |
Adenylate kinase3
Protein LET-7541 |
65(a)3
59.02(n)1
63.2(a)1 |
|
III(8022003-8023345)3
1761181 NM_066329.41 NP_498730.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
ADK1(YDR226W)4
ADK11 |
Adenylate kinase, required for purine metabolism; localized more4
Adk1p1 |
55.71(n)1
58.33(a)1 |
|
4(916486-917154)4
8518121, 4 NP_010512.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G503701 |
adenylate kinase 2 |
57.31(n)
54.68(a) |
|
835104 NM_124418.3 NP_199848.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.79902 |
Oryza sativa mRNA for adenylate kinase-b, complete more |
69.3(n) |
|
D10335.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
adk6 |
adenylate kinase |
49(a) |
1 ↔ 1 |
Chromosome(496399-497043) |
ENSEMBL Gene Tree for AK2 (if available)
TreeFam Gene Tree for AK2 (if available) |
Paralogs
for AK2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AK2 gene
6 SIMAP similar genes for AK2 using alignment to 6 protein entries: KAD2_HUMAN (see all proteins):AK5 AK3 AK1 AK4 AKD1 CMPK
AK2 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for AK2
PGOHUM00000263026 PGOHUM00000240008
|
Genomic Variants
for AK2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AK2 (33473585 - 33546597 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for AK2
5 CNVs: 38992 43774 43775 38991 60814
Human Gene Mutation Database (HGMD): AK2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AK2 |
|
Disorders
/ Diseases
for AK2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AK2 for disorders About GeneDecksing
OMIM gene information: 103020
OMIM disorders: 267500
UniProtKB/Swiss-Prot: KAD2_HUMAN, P54819
Defects in AK2 are the cause of reticular dysgenesis (RDYS) [MIM:267500]; also known as aleukocytosis. RDYS isthe most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence ofgranulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondarylymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemiawithin days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blockedat the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. In addition, affectednewborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, inwhich its absence can not be compensated by AK1
10  diseases for AK2: About MalaCardsreticular dysgenesis severe combined immunodeficiency combined immunodeficiency sickle cell anemia
noma anemia immunodeficiency hematopoiesis
malaria prostatitis
1 disease from the University of Copenhagen DISEASES database for AK2:Severe combined immunodeficiency 1 Novoseek disease relationship for AK2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| reticular dysgenesis |
94.8 |
3 |
19043417 (1), 19468337 (1), 19043416 (1) |
Human Genome Epidemiology (HuGE) Navigator: AK2 (1 document)
Export disorders for AK2 gene to outside databases
|
Publications
for AK2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AK2 gene, integrated from 9 sources (see all 52):
(articles sorted by number of sources associating them with AK2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and characterization of cDNA for human adenylate kinase 2A. (PubMed id 8843353)1, 2, 3 Lee Y.... Choe I.S. (1996)
- Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. (PubMed id 9504408)1, 2, 9 Lee Y.... Choe I.S. (1998)
- cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2. (PubMed id 9434148)1, 2, 9 Noma T.... Nakazawa A. (1998)
- Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. (PubMed id 19043417)1, 2, 9 Pannicke U....Schwarz K. (2009)
- Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. (PubMed id 19043416)1, 2, 9 Lagresle-Peyrou C.... Cavazzana-Calvo M. (2009)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Gene order and localization of enzyme loci on the short arm of chromosome 1. (PubMed id 6961883)1, 3 Carritt B....Welch H.M. (1982)
- AK2 activates a novel apoptotic pathway through formation of a complex with FADD and caspase-10. (PubMed id 17952061)1, 9 Lee H.J....Jung Y.K. (2007)
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External Searches for AK2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing AK2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing AK2 gene
(According to HUGE)
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Specialized Databases showing AK2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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About This Section
| Patent Information for AK2 gene:
Search GeneIP for patents involving AK2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for AK2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AK2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AK2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AK2 | | | OriGene Protein Over-expression Lysate for AK2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AK2 | | OriGene 3'-UTR Clone for AK2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AK2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for AK2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AK2 | | OriGene Custom Protein Services for AK2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AK2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AK2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AK2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AK2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AK2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AK2 |
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| | | | Search Tocris compounds for AK2 |
| |  |  |  |  | | | | | | Recombinant Protein for AK2 |
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 | | | AK2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK2 |
|  |  |  | | | | ThermoFisher Antibodies for AK2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AK2 |
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