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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGK Gene

protein-coding   GIFtS: 56
GCID: GC07P141250

Acylglycerol Kinase

(Previous name: multiple substrate lipid kinase)
(Previous symbol: MULK)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acylglycerol Kinase1 2     MTDPS102
MULK1 2 3 5     Acylglycerol Kinase, Mitochondrial2
Multiple Substrate Lipid Kinase1 2 3     hsMuLK2
Multi-Substrate Lipid Kinase2 3     EC 2.7.1.1073
hAGK2 3     EC 2.7.1.943
CATC52     HsMuLK3
CTRCT382     MuLK3

External Ids:    HGNC: 218691   Entrez Gene: 557502   Ensembl: ENSG000000065307   OMIM: 6103455   UniProtKB: Q53H123   

Export aliases for AGK gene to outside databases

Previous GC identifers: GC07P140899 GC07P135547


(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 AGK Gene:
The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid
metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and
lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10.
(provided by RefSeq, Feb 2012)

GeneCards Summary for AGK Gene: 
AGK (acylglycerol kinase) is a protein-coding gene. Diseases associated with AGK include cataract, autosomal recessive congenital 5, and cataract and cardiomyopathy, and among its related super-pathways are Metabolism. GO annotations related to this gene include diacylglycerol kinase activity and acylglycerol kinase activity. An important paralog of this gene is CERKL.

UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
Function: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic
acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases
the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK
signaling pathway, leading to increased cell growth

Gene Wiki entry for AGK 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGK gene promoter:
         oct-B3   GATA-3   Pbx1a   AML1a   Lmo2   HNF-3beta   GATA-2   GATA-1   Evi-1   AREB6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AGK promoter sequence
   Search SABiosciences Chromatin IP Primers for AGK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

AGK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGK gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P141250:  view genomic region     (about GC identifiers)

Start:
141,250,989 bp from pter      End:
141,355,044 bp from pter
Size:
104,056 bases      Orientation:
plus strand

2 alternative locations:
Chr7+,CRA_TCAG 140,588,796-140,691,918      Chr7+,NW_003315922 476-21,001     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12 (See protein sequence)
Recommended Name: Acylglycerol kinase, mitochondrial precursor  
Size: 422 amino acids; 47137 Da
Cofactor: Magnesium
Subcellular location: Mitochondrion membrane
Miscellaneous: Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression
of prostate cancer, processes in which LPA plays key roles
Secondary accessions: Q75KN1 Q96GC3 Q9NP48
Alternative splicing: 2 isoforms:  Q53H12-1   Q53H12-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGK: NX_Q53H12

Explore proteomics data for AGK at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53H12

  • AGK Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGK Protein Expression
    REFSEQ proteins: NP_060708.1  
    ENSEMBL proteins: 
     ENSP00000347581   ENSP00000420776   ENSP00000420540   ENSP00000418789   ENSP00000418101  
     ENSP00000444349  

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    Cloud-Clone Corp. Proteins for AGK 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0016020membrane ----
    GO:0031966mitochondrial membrane IEA--

    AGK for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001206 Diacylglycerol_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q53H12

    ProtoNet protein and cluster: Q53H12

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Similarity: Contains 1 DAGKc domain


    AGK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGK_HUMAN, Q53H12
    Function: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic
    acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases
    the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK
    signaling pathway, leading to increased cell growth
    Catalytic activity: ATP + acylglycerol = ADP + acyl-sn-glycerol 3-phosphate
    Catalytic activity: ATP + 1,2-diacylglycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate

         Enzyme Numbers (IUBMB): EC 2.7.1.1071 EC 2.7.1.941

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001727lipid kinase activity ----
    GO:0001729ceramide kinase activity IEA--
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
    GO:0005524ATP binding IEA--
         
    AGK for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidAGK 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGK About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Glycerolipid metabolism
    Glycerolipid metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for AGK):
        Glycerolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Pathway: Lipid metabolism; glycerolipid metabolism


    AGK for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/278 Interacting proteins for AGK (Q53H122, 3 ENSP000003475814) via UniProtKB, MINT, STRING, and/or I2D (see all 278)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCKP086312, 3, ENSP000003650124MINT-65152 I2D: score=3 STRING: ENSP00000365012
    PDLIM1O001512, 3, ENSP000003603054MINT-65150 I2D: score=3 STRING: ENSP00000360305
    SNX4O952192, 3, ENSP000002517754MINT-65151 I2D: score=3 STRING: ENSP00000251775
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0046486glycerolipid metabolic process IEA--
    GO:0046513ceramide biosynthetic process IEA--
    GO:0046834lipid phosphorylation ----

    AGK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AGK

    10/928 HMDB Compounds for AGK (see all 928)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Arachidonylglycerol2-Arachidonyl glycerol;(all-Z)-2-hydroxy-1-(hydroxymethyl)ethyl ester 5,8,11,14-Eicosatetraenoic acid (see all 21)53847-30-6--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    10/38 Novoseek inferred chemical compound relationships for AGK gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 86.2 47 9854311 (1), 11092809 (1), 15044087 (1), 18043260 (1) (see all 44)
    phosphatidylinositol 85.1 70 7612667 (5), 8999962 (2), 8987988 (2), 9748276 (2) (see all 47)
    lipid 84.1 468 7612667 (5), 20035616 (5), 11736661 (4), 8380145 (3) (see all 99)
    wortmannin 76.7 15 9182708 (3), 9139718 (1), 8943387 (1), 9334339 (1) (see all 12)
    ptdins(3)p 75.9 1 18537792 (1)
    phosphatidylinositol-3,4,5-trisphosphate 75.8 6 15242973 (1), 15505410 (1), 19689267 (1), 12734372 (1) (see all 6)
    ly294002 70.1 10 9139718 (1), 17302559 (1), 8943387 (1), 15155829 (1) (see all 8)
    phosphatidylinositol 3-phosphate 68.9 3 2168961 (1), 19841139 (1)
    pip2 62.8 5 15888659 (1), 19689267 (1), 9074761 (1), 11706993 (1)
    sphingosine 62.5 13 15252046 (2), 18638570 (1), 9726979 (1), 17482291 (1) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about AGK

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AGK gene: 
    NM_018238.3  

    Unigene Cluster for AGK:

    Acylglycerol kinase
    Hs.743318  [show with all ESTs]
    Unigene Representative Sequence: NM_018238
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355413(uc011krg.1 uc003vwi.2) ENST00000473247 ENST00000495028
    ENST00000473884 ENST00000492693(uc003vwh.2) ENST00000494688 ENST00000465241
    ENST00000496784 ENST00000496273 ENST00000494053 ENST00000535825
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    SwitchGear 3'UTR luciferase reporter plasmidAGK 3' UTR sequence
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    Additional mRNA sequence: 

    AJ278150.1 AK001704.1 AK222769.1 AK299131.1 AK304502.1 BC009775.1 BC022777.1 

    10 DOTS entries:

    DT.305637  DT.454358  DT.95080262  DT.97841242  DT.100816647  DT.95096488  DT.121048299  DT.121048356 
    DT.95101623  DT.97815872 

    24/155 AceView cDNA sequences (see all 155):

    BM461550 BC022777 CR603206 CR625177 BM509576 BI824671 AA694449 NM_018238 
    AW300022 BM697149 BM505176 AU133125 BU182711 AA595754 AA446901 BQ440189 
    AI686706 AK001704 BX382024 BG778116 CB158736 BI767464 BX440819 BM091405 

    GeneLoc Exon Structure


    (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

    AGK expression in normal human tissues (normalized intensities)      AGK embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AGK Expression
    About this image


    AGK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Bone (Muscoskeletal System)
             sensory organ/ear/inner ear   
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   

    See AGK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGK

    SOURCE GeneReport for Unigene cluster: Hs.743318

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
    Tissue specificity: Highly expressed in muscle, heart, kidney and brain

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    In Situ
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    (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 common ancestor of animals and fungi.

    Orthologs for AGK gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agk1 , 5 acylglycerol kinase1, 5 87.73(n)1
    91.92(a)1
      6 (18.82 cM)5
    699231  NM_023538.21  NP_076027.11 
     403254785 
    chicken
    (Gallus gallus)
    Aves AGK1 acylglycerol kinase 75.14(n)
    75.54(a)
      418121  XM_416354.3  XP_416354.1 
    lizard
    (Anolis carolinensis)
    Reptilia AGK6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    5(16085385-16126489)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529202 hypothetical protein MGC52920 73.81(n)    BC043761.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi38e092 wufi38e09 75.43(n)   334270  BC045347.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG318731 CG31873 42.86(n)
    28.83(a)
      326168  NM_164906.2  NP_723549.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52C9.36
    Uncharacterized protein F52C9.3
    14(a)
    1 ↔ 1
    III(5321782-5326346)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB56
    LCB46
    Minor sphingoid long-chain base kinase, paralog of...
    Sphingoid long-chain base kinase, responsible for ...
    9(a)
    10(a)
    many ↔ many
    many ↔ many
    XII(665844-667907)
    XV(652010-653884)


    ENSEMBL Gene Tree for AGK (if available)
    TreeFam Gene Tree for AGK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGK gene
    CERKL2  SPHK12  CERK2  SPHK22  
    1 SIMAP similar gene for AGK using alignment to 4 protein entries:     AGK_HUMAN (see all proteins):
    FLJ10842

    AGK for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for AGK
    PGOHUM00000241549 PGOHUM00000233964


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1808 SNPs in AGK are shown (see all 1808)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715295281,2
    C--140598313(+) CTTTC-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs1126318761,2
    C,F--140619582(+) GGCAAC/TTGGAC 1 -- int13Minor allele frequency- T:0.13CSA WA EA 239
    rs611438111,2
    --140619808(+) GCTGCA/GGTTTA 1 -- int10--------
    rs357929121,2
    C--140620411(+) GGAGAG/AGTCAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs735236281,2
    C,F--140621224(+) CCTGCG/ATCCGT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs132444411,2
    C,F--140639683(+) TTTTCT/GTGTGT 1 -- int11Minor allele frequency- G:0.06EA 120
    rs360886581,2
    C--140652302(+) GAAACAT/-ATGAA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs711726091,2
    C--140658037(+) GAGAC-/AGGGGAA 1 -- int11Minor allele frequency- AG:0.00NA 2
    rs792463081,2
    --140658037(+) GAGACA/GGGGGA 1 -- int10--------
    rs117642101,2
    C,H--140658038(+) agacaG/Cgggaa 1 -- int11Minor allele frequency- C:0.00NS 118

    HapMap Linkage Disequilibrium report for AGK (141250989 - 141355044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AGK:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666672CNV Deletion23128226
    esv268124CNV Insertion20981092
    nsv510118CNV Loss20534489
    esv34135CNV Loss18971310


    Human Gene Mutation Database (HGMD): AGK
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AGK
    DNA2.0 Custom Variant and Variant Library Synthesis for AGK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610345    OMIM disorders: --

    UniProtKB/Swiss-Prot: AGK_HUMAN, Q53H12
  • Mitochondrial DNA depletion syndrome 10 (MTDPS10) [MIM:212350]: An autosomal recessive mitochondrial
    disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise
    intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from
    cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cataract, congenital, autosomal recessive 5 (CATC5) [MIM:614691]: An opacification of the crystalline
    lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities
    vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general,
    the more posteriorly located and dense an opacity, the greater the impact on visual function. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for AGK (see all 30):    About MalaCards
    cataract, autosomal recessive congenital 5    cataract and cardiomyopathy    mitochondrial dna depletion syndrome    mitochondrial disorders
    lactic acidosis    pheochromocytoma    gout    burkitt's lymphoma
    hypertrophic cardiomyopathy    fibrosarcoma    insulin resistance    osteosarcoma
    cataract    amyotrophic lateral sclerosis    lateral sclerosis    nasopharyngitis
    retinoblastoma    multiple myeloma    myopathy    myeloma


    AGK for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for AGK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 32.2 16 19549252 (2), 19025891 (1), 19368348 (1), 11574762 (1) (see all 10)
    erythroleukemia 21.8 1 7606713 (1)
    tumors 6.37 10 19025891 (1), 19395305 (1), 14729945 (1), 16556064 (1) (see all 7)
    inflammation 1.99 4 19112101 (1), 19641220 (1), 17355200 (1)
    pheochromocytoma 0.784 2 8168074 (1), 7572346 (1)
    insulin resistance 0 1 10768093 (1)
    autoimmune diseases 0 1 17614878 (1)
    osteosarcoma 0 2 8168074 (1), 7572346 (1)
    prostate cancer 0 16 19549252 (4), 16246119 (3), 15939762 (3)

    Genetic Association Database (GAD): AGK
    Human Genome Epidemiology (HuGE) Navigator: AGK (1 document)

    Export disorders for AGK gene to outside databases

    (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 AGK gene, integrated from 9 sources (see all 305):
    (articles sorted by number of sources associating them with AGK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells. (PubMed id 15939762)1, 2, 3, 9 Bektas M.... Spiegel S. (2005)
    2. MuLK, a eukaryotic multi-substrate lipid kinase. (PubMed id 15252046)1, 3, 9 Waggoner D.W....Bajjalieh S.M. (2004)
    3. Identification of a truncation mutation of acylglycero l kinase (AGK) gene in a novel autosomal recessive cataract locus. (PubMed id 22415731)1, 2 Aldahmesh M.A....Alkuraya F.S. (2012)
    4. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1, 2 Calvo S.E.... Mootha V.K. (2012)
    5. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (PubMed id 22284826)1, 2 Mayr J.A.... Prokisch H. (2012)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Functions of the multifaceted family of sphingosine k inases and some close relatives. (PubMed id 17135245)1, 3 Spiegel S. and Milstien S. (2007)
    8. Further characterization of mammalian ceramide kinase: substrate delivery and (stereo)specificity, tissue distribution, and subcellular localization studies. (PubMed id 16269826)1, 2 Van Overloop H.... Van Veldhoven P.P. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55750 HGNC: 21869 AceView: FLJ10842 Ensembl:ENSG00000006530 euGenes: HUgn55750
    ECgene: AGK Kegg: 55750 H-InvDB: AGK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGK gene:
    Search GeneIP for patents involving AGK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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