This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expres... See more...

Aliases for AK4 Gene

Aliases for AK4 Gene

  • Adenylate Kinase 4 2 3 5
  • Adenylate Kinase 4, Mitochondrial 3 4
  • Adenylate Kinase 3-Like 1 2 3
  • AK3L1 3 4
  • AK 4 3 4
  • AK3 3 4
  • GTP:AMP Phosphotransferase AK4, Mitochondrial 3
  • Adenylate Kinase Isoenzyme 4, Mitochondrial 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Nucleoside-Triphosphate-Adenylate Kinase 3
  • Mitochondrial Adenylate Kinase-3 3
  • GTP:AMP Phosphotransferase AK4 4
  • ATP-AMP Transphosphorylase 3
  • Adenylate Kinase 3-Like 4
  • Adenylate Kinase 3 2
  • EC 2.7.4.10 4
  • EC 2.7.4.3 51
  • EC 2.7.4.6 4
  • EC 2.7.4 51
  • AK3L2 3
  • AK4 5

External Ids for AK4 Gene

Previous HGNC Symbols for AK4 Gene

  • AK3
  • AK3L1

Previous GeneCards Identifiers for AK4 Gene

  • GC01P065614

Summaries for AK4 Gene

Entrez Gene Summary for AK4 Gene

  • This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]

GeneCards Summary for AK4 Gene

AK4 (Adenylate Kinase 4) is a Protein Coding gene. Diseases associated with AK4 include Reticular Dysgenesis and Amyloidosis, Familial Visceral. Among its related pathways are ATP/ITP metabolism and Thiamine metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and adenylate kinase activity. An important paralog of this gene is AK3.

UniProtKB/Swiss-Prot Summary for AK4 Gene

  • Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates (PubMed:19073142, PubMed:19766732, PubMed:23416111, PubMed:24767988). Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor (PubMed:19073142, PubMed:19766732, PubMed:23416111). Also displays broad nucleoside diphosphate kinase activity (PubMed:19073142, PubMed:19766732, PubMed:23416111). Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK (PubMed:24767988, PubMed:26980435). Plays a protective role in the cellular response to oxidative stress (PubMed:19130895, PubMed:23474458, PubMed:26980435).

Gene Wiki entry for AK4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AK4 Gene

Genomics for AK4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J065147 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 624.9 +1.8 1766 4.6 HNRNPL PRDM10 TFE3 ZNF692 BACH1 LARP7 PRDM1 ZIC2 ZSCAN4 RBFOX2 AK4 lnc-JAK1-7 piR-39329 DNAJC6 RPS29P7 lnc-AK4-1
GH01J065064 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.4 -80.4 -80421 6.6 GATAD2A HNRNPL PRDM10 REST ZNF629 IKZF1 ZNF692 BACH1 TARDBP FOXA1 JAK1 lnc-JAK1-2 AK4 RNU6-1176P ENSG00000237852 LEPROT LEPR MIR101-1 lnc-AK4-2 lnc-AK4-1
GH01J065169 Promoter/Enhancer 1.1 Ensembl ENCODE 36.3 +23.2 23184 1.1 CEBPG PKNOX1 SP1 CEBPA CTBP1 ZNF316 MAFF ATF3 YY1 MAFK AK4 RPS29P7 lnc-DNAJC6-3 DNAJC6 lnc-AK4-1
GH01J065174 Enhancer 0.8 ENCODE 41.3 +29.2 29151 4 GATAD2A IKZF1 ZNF692 JUND FOXA1 IKZF2 ZNF341 SCRT2 EED DPF2 AK4 lnc-DNAJC6-3 RPS29P7 DNAJC6 lnc-AK4-1
GH01J065195 Enhancer 0.7 Ensembl ENCODE 36.7 +48.6 48592 1.8 JUND SCRT2 EGR1 RUNX3 NFE2 ZNF316 FOS EHMT2 BHLHE40 ATF3 lnc-DNAJC6-3 AK4 DNAJC6 JAK1 lnc-DNAJC6-2 lnc-AK4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AK4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AK4

Genomic Locations for AK4 Gene

Genomic Locations for AK4 Gene
chr1:65,147,342-65,232,145
(GRCh38/hg38)
Size:
84,804 bases
Orientation:
Plus strand
chr1:65,613,232-65,697,828
(GRCh37/hg19)
Size:
84,597 bases
Orientation:
Plus strand

Genomic View for AK4 Gene

Genes around AK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AK4 Gene

Proteins for AK4 Gene

  • Protein details for AK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27144-KAD4_HUMAN
    Recommended name:
    Adenylate kinase 4, mitochondrial
    Protein Accession:
    P27144
    Secondary Accessions:
    • B2R927
    • D3DQ62
    • Q6IBH4
    • Q6NXQ5
    • Q8IUU9

    Protein attributes for AK4 Gene

    Size:
    223 amino acids
    Molecular mass:
    25268 Da
    Quaternary structure:
    • Monomer (Ref.17). Interacts with SLC25A5/ANT2 (PubMed:19130895).

    Three dimensional structures from OCA and Proteopedia for AK4 Gene

neXtProt entry for AK4 Gene

Selected DME Specific Peptides for AK4 Gene

P27144:
  • FSGTETN
  • WLLDGFPR
  • DDVTGEPL
  • LDGFPRT
  • RIAQNFGLQHLSSGH
  • SGRVYNLDFNPP
  • TGEPLVQQEDDKPEA
  • AKPVIELYKSRGVLHQFSGTETN

Post-translational modifications for AK4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AK4 Gene

Domains & Families for AK4 Gene

Gene Families for AK4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AK4 Gene

GenScript: Design optimal peptide antigens:
  • Adenylate kinase 3-like (KAD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27144

UniProtKB/Swiss-Prot:

KAD4_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 GTP/ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP/ATP hydrolysis.
  • Belongs to the adenylate kinase family. AK3 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 GTP/ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent GTP/ATP hydrolysis.
Family:
  • Belongs to the adenylate kinase family. AK3 subfamily.
genes like me logo Genes that share domains with AK4: view

Function for AK4 Gene

Molecular function for AK4 Gene

UniProtKB/Swiss-Prot Function:
Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates (PubMed:19073142, PubMed:19766732, PubMed:23416111, PubMed:24767988). Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor (PubMed:19073142, PubMed:19766732, PubMed:23416111). Also displays broad nucleoside diphosphate kinase activity (PubMed:19073142, PubMed:19766732, PubMed:23416111). Plays a role in controlling cellular ATP levels by regulating phosphorylation and activation of the energy sensor protein kinase AMPK (PubMed:24767988, PubMed:26980435). Plays a protective role in the cellular response to oxidative stress (PubMed:19130895, PubMed:23474458, PubMed:26980435).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + AMP = a ribonucleoside 5'-diphosphate + ADP; Xref=Rhea:RHEA:13749, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.10; Evidence={ECO:0000255|HAMAP-Rule:MF_03170, ECO:0000269|PubMed:19766732, ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'-deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000255|HAMAP-Rule:MF_03170, ECO:0000269|PubMed:19766732, ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence={ECO:0000255|HAMAP-Rule:MF_03170, ECO:0000269|PubMed:19766732, ECO:0000269|PubMed:23416111};.
UniProtKB/Swiss-Prot Induction:
By hypoxia (at protein level).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.3 uM for AMP with ATP as phosphate donor {ECO:0000269|PubMed:19766732}; KM=1.4 uM for AMP with GTP as phosphate donor {ECO:0000269|PubMed:19766732}; KM=507 uM for dAMP with ATP as phosphate donor {ECO:0000269|PubMed:19766732}; Vmax=90 pmol/min/ug enzyme with AMP as substrate and ATP as phosphate donor {ECO:0000269|PubMed:19766732}; Vmax=80 pmol/min/ug enzyme with AMP as substrate and GTP as phosphate donor {ECO:0000269|PubMed:19766732}; Vmax=88 pmol/min/ug enzyme with dAMP as substrate and ATP as phosphate donor {ECO:0000269|PubMed:19766732};

Enzyme Numbers (IUBMB) for AK4 Gene

Phenotypes From GWAS Catalog for AK4 Gene

Gene Ontology (GO) - Molecular Function for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004017 NOT adenylate kinase activity IDA 11485571
GO:0004550 nucleoside diphosphate kinase activity IEA,IDA 23416111
GO:0005515 protein binding IPI 19130895
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with AK4: view
genes like me logo Genes that share phenotypes with AK4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK4

Clone Products

  • Addgene plasmids for AK4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AK4 Gene

Localization for AK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AK4 Gene

Mitochondrion matrix.

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 AK4 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IDA 19766732
GO:0005759 mitochondrial matrix ISS,TAS --
genes like me logo Genes that share ontologies with AK4: view

Pathways & Interactions for AK4 Gene

genes like me logo Genes that share pathways with AK4: view

Pathways by source for AK4 Gene

Gene Ontology (GO) - Biological Process for AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0002082 regulation of oxidative phosphorylation IMP 26980435
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006163 purine nucleotide metabolic process IBA 21873635
GO:0006165 nucleoside diphosphate phosphorylation IDA 23416111
genes like me logo Genes that share ontologies with AK4: view

No data available for SIGNOR curated interactions for AK4 Gene

Drugs & Compounds for AK4 Gene

(5) Drugs for AK4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adefovir dipivoxil Approved, Investigational Pharma Enzyme, substrate 97
Tenofovir disoproxil Approved, Investigational Pharma Enzyme, substrate 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(4) Additional Compounds for AK4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
Deoxyadenosine monophosphate
  • 2'-dAMP
  • 2'-Deoxy-5'-adenosine monophosphate
  • 2'-Deoxy-AMP
  • 2'-Deoxyadenosine 5'-(dihydrogen phosphate)
  • 2'-Deoxyadenosine 5'-monophosphate
653-63-4
genes like me logo Genes that share compounds with AK4: view

Transcripts for AK4 Gene

mRNA/cDNA for AK4 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AK4

Clone Products

  • Addgene plasmids for AK4

Alternative Splicing Database (ASD) splice patterns (SP) for AK4 Gene

No ASD Table

Relevant External Links for AK4 Gene

GeneLoc Exon Structure for
AK4

Expression for AK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AK4 Gene

mRNA differential expression in normal tissues according to GTEx for AK4 Gene

This gene is overexpressed in Kidney - Cortex (x5.8).

Protein differential expression in normal tissues from HIPED for AK4 Gene

This gene is overexpressed in Kidney (17.1) and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AK4 Gene



Protein tissue co-expression partners for AK4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AK4

SOURCE GeneReport for Unigene cluster for AK4 Gene:

Hs.10862

mRNA Expression by UniProt/SwissProt for AK4 Gene:

P27144-KAD4_HUMAN
Tissue specificity: Highly expressed in kidney, moderately expressed in heart and liver and weakly expressed in brain.

Evidence on tissue expression from TISSUES for AK4 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Intestine(4.4)
  • Lung(4.3)
  • Kidney(4.1)
  • Heart(2.9)
  • Muscle(2.7)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with AK4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AK4 Gene

Orthologs for AK4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AK4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AK4 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AK4 30
  • 92.08 (n)
-- 31
  • 53 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia AK4 30 31
  • 89.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ak4 30 17 31
  • 87.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ak4 30
  • 85.2 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AK4 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AK4 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AK4 30 31
  • 75.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AK4 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ak4 30
  • 71.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii ak4 30 31
  • 66.51 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4221 30
Fruit Fly
(Drosophila melanogaster)
Insecta Adk3 31
  • 48 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ZK673.2 31
  • 29 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADK2 31
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8262 31
  • 45 (a)
OneToMany
Species where no ortholog for AK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AK4 Gene

ENSEMBL:
Gene Tree for AK4 (if available)
TreeFam:
Gene Tree for AK4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AK4: view image

Paralogs for AK4 Gene

Paralogs for AK4 Gene

(2) SIMAP similar genes for AK4 Gene using alignment to 3 proteins:

  • KAD4_HUMAN
  • D3DQ64_HUMAN
  • K4Q5R3_HUMAN

Pseudogenes.org Pseudogenes for AK4 Gene

genes like me logo Genes that share paralogs with AK4: view

Variants for AK4 Gene

Additional dbSNP identifiers (rs#s) for AK4 Gene

Structural Variations from Database of Genomic Variants (DGV) for AK4 Gene

Variant ID Type Subtype PubMed ID
dgv173n100 CNV gain 25217958
esv2230166 CNV deletion 18987734
esv2446769 CNV deletion 19546169
esv2658072 CNV deletion 23128226
esv2676423 CNV deletion 23128226
esv3563237 CNV deletion 23714750
esv3577906 CNV loss 25503493
esv3586276 CNV loss 21293372
esv3586277 CNV loss 21293372
nsv1137767 CNV deletion 24896259
nsv1146559 CNV deletion 26484159
nsv522027 CNV loss 19592680
nsv945982 CNV duplication 23825009
nsv945983 CNV duplication 23825009
nsv945984 CNV duplication 23825009

Variation tolerance for AK4 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.29; 81.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AK4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AK4 Gene

Disorders for AK4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AK4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
reticular dysgenesis
  • rd
amyloidosis, familial visceral
  • amyloidosis viii
- elite association - COSMIC cancer census association via MalaCards
Search AK4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AK4

genes like me logo Genes that share disorders with AK4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AK4 Gene

Publications for AK4 Gene

  1. Structure and expression of human mitochondrial adenylate kinase targeted to the mitochondrial matrix. (PMID: 11485571) Noma T … Yoshinobu K (The Biochemical journal 2001) 2 3 4 23
  2. Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. (PMID: 1639383) Xu G … White R (Genomics 1992) 3 4 23
  3. Modulation of anti-cancer drug sensitivity through the regulation of mitochondrial activity by adenylate kinase 4. (PMID: 26980435) Fujisawa K … Sakaida I (Journal of experimental & clinical cancer research : CR 2016) 3 4
  4. A mitochondrial RNAi screen defines cellular bioenergetic determinants and identifies an adenylate kinase as a key regulator of ATP levels. (PMID: 24767988) Lanning NJ … MacKeigan JP (Cell reports 2014) 3 4
  5. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. (PMID: 23416111) Amiri M … Solaroli N (The international journal of biochemistry & cell biology 2013) 3 4

Products for AK4 Gene

Sources for AK4 Gene