Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ADCK4 Gene

protein-coding   GIFtS: 56
GCID: GC19M041199

AarF Domain Containing Kinase 4

  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

TryGeneCards Plus

Aliases
AarF Domain Containing Kinase 41 2     EC 2.7.118
NPHS92 5     EC 2.7.11.18
AarF Domain-Containing Protein Kinase 42     EC 2.7.11.258
EC 2.7.11.-3     

External Ids:    HGNC: 190411   Entrez Gene: 799342   Ensembl: ENSG000001238157   OMIM: 6155675   UniProtKB: Q96D533   

Export aliases for ADCK4 gene to outside databases

Previous GC identifers: GC19M045873 GC19M045889 GC19M037630


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ADCK4 Gene:
This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a
complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites
of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for ADCK4 Gene:
ADCK4 (aarF domain containing kinase 4) is a protein-coding gene. Diseases associated with ADCK4 include nephrotic syndrome, type 9, and focal segmental glomerulosclerosis. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is ADCK3.

UniProtKB/Swiss-Prot: ADCK4_HUMAN, Q96D53
Function: May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADCK4 gene promoter:
         COUP-TF1   NF-1   Lmo2   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCK4 promoter sequence
   Search Chromatin IP Primers for ADCK4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCK4


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

ADCK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCK4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041199:  view genomic region     (about GC identifiers)

Start:
41,197,434 bp from pter      End:
41,224,112 bp from pter
Size:
26,679 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ADCK4_HUMAN, Q96D53 (See protein sequence)
Recommended Name: AarF domain-containing protein kinase 4  
Size: 544 amino acids; 60069 Da
Subunit: Interacts with COQ6 and COQ7
Secondary accessions: Q8TAJ1 Q9HA52
Alternative splicing: 2 isoforms:  Q96D53-1   Q96D53-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADCK4: NX_Q96D53

Explore proteomics data for ADCK4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys424
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for ADCK4 (Q96D53)
     GTEVAVK  PPPEETY  KAAADGDR  AAASIGQVH 


    See ADCK4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001136027.1  NP_079152.3  

    ENSEMBL proteins: 
     ENSP00000315118   ENSP00000243583   ENSP00000470894   ENSP00000471192   ENSP00000472519  
     ENSP00000470916   ENSP00000473017   ENSP00000471310   ENSP00000473189   ENSP00000470876  
     ENSP00000472978   ENSP00000472925   ENSP00000472775   ENSP00000412839  

    ADCK4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ADCK4
    OriGene Protein Over-expression Lysate for ADCK4
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ADCK4
    GenScript Custom Purified and Recombinant Proteins Services for ADCK4
    Novus Biologicals ADCK4 Proteins
    Novus Biologicals ADCK4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADCK4

    ADCK4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ADCK4
    OriGene Custom Antibody Services for ADCK4
    Novus Biologicals ADCK4 Antibodies
    Abcam antibodies for ADCK4
    Cloud-Clone Corp. Antibodies for ADCK4
    ThermoFisher Antibodies for ADCK4
    LSBio Antibodies in human, mouse, rat for ADCK4

    ADCK4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ADCK4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADCK4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ADCK4
    Cloud-Clone Corp. CLIAs for ADCK4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: aarF domain containing kinase 4
    ABC1-B subfamily

    2 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR004147 UbiB_dom

    Graphical View of Domain Structure for InterPro Entry Q96D53

    ProtoNet protein and cluster: Q96D53

    1 Blocks protein domain: IPB004147 ABC1 protein

    UniProtKB/Swiss-Prot: ADCK4_HUMAN, Q96D53
    Similarity: Belongs to the protein kinase superfamily. ADCK protein kinase family
    Similarity: Contains 1 protein kinase domain


    ADCK4 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADCK4_HUMAN, Q96D53
    Function: May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration

         Enzyme Numbers (IUBMB): EC 2.7.11.252 EC 2.7.112 EC 2.7.11.-1 EC 2.7.11.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    ADCK4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ADCK4:
     Decreased substrate adherent c  Decreased telomerase activity  Stronger migration 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADCK4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADCK4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADCK4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADCK4

    miRNA
    Products:
        
    miRTarBase miRNAs that target ADCK4:
    hsa-mir-92b-3p (MIRT040569)

    Block miRNA regulation of human, mouse, rat ADCK4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ADCK4:
    hsa-miR-3202 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidADCK4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADCK4
    Predesigned siRNA for gene silencing in human, mouse, rat ADCK4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ADCK4

    Clone
    Products:
         
    OriGene clones in human, mouse for ADCK4 (see all 13)
    OriGene ORF clones in mouse, rat for ADCK4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADCK4 (NM_024876)
    Sino Biological Human cDNA Clone for ADCK4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCK4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ADCK4
    Browse ESI BIO Cell Lines and PureStem Progenitors for ADCK4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ADCK4_HUMAN, Q96D53: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm, cytosol. Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    nucleus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    ADCK4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADCK4
    Interactions:

        Search GeneGlobe Interaction Network for ADCK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for ADCK4 (Q96D533 ENSP000003151184) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKP3Q9Y4463I2D: score=1 
    COQ9ENSP000002625074STRING: ENSP00000262507
    COQ10AENSP000003125874STRING: ENSP00000312587
    COQ10BENSP000002639604STRING: ENSP00000263960
    COQ3ENSP000002547594STRING: ENSP00000254759
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADCK4



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ADCK4 gene (2 alternative transcripts): 
    NM_001142555.2  NM_024876.3  

    Unigene Cluster for ADCK4:

    AarF domain containing kinase 4
    Hs.130712  [show with all ESTs]
    Unigene Representative Sequence: NM_024876
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324464(uc002oor.2 uc002oos.2) ENST00000593724 ENST00000243583(uc002oop.1 uc002ooq.2)
    ENST00000595254 ENST00000596455 ENST00000599643 ENST00000601304 ENST00000601967
    ENST00000601451 ENST00000600080 ENST00000593544 ENST00000594490 ENST00000594084
    ENST00000594720 ENST00000600707 ENST00000596357 ENST00000593723 ENST00000450541

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ADCK4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ADCK4:
    hsa-miR-3202 hsa-miR-3179
    SwitchGear 3'UTR luciferase reporter plasmidADCK4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ADCK4
    Predesigned siRNA for gene silencing in human, mouse, rat ADCK4
    Clone
    Products:
         
    OriGene clones in human, mouse for ADCK4 (see all 13)
    OriGene ORF clones in mouse, rat for ADCK4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADCK4 (NM_024876)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCK4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ADCK4
    OriGene qSTAR qPCR primer pairs in human, mouse for ADCK4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK4
      QuantiTect SYBR Green Assays in human, mouse, rat ADCK4
      QuantiFast Probe-based Assays in human, mouse, rat ADCK4

    Additional mRNA sequence: 

    AF052122.1 AK057199.1 BC013114.1 BC013884.1 BC027473.1 

    7 DOTS entries:

    DT.428186  DT.100780080  DT.40212555  DT.121436176  DT.100780081  DT.95254118  DT.99961989 

    Selected AceView cDNA sequences (see all 104):

    BC013114 BU171148 BM458499 BX417125 AF052122 BC013884 BX489396 AU121879 
    BM801821 NM_024876 BM053147 BM457893 BF847966 BF447254 BF847958 AA351585 
    BC027473 BI063852 BF055158 BI226041 CA449895 AI365953 AI422730 AI004937 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADCK4 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:              -                 -                             -                       -                                 
    SP2:                                -                 -           -                       -                                 
    SP3:              -                 -                                                                                       
    SP4:                                                                                                                        
    SP5:                                -                             -                                                         


    ECgene alternative splicing isoforms for ADCK4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ADCK4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGTTATGCA
    ADCK4 Expression
    About this image


    ADCK4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    ADCK4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCK4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130712

    UniProtKB/Swiss-Prot: ADCK4_HUMAN, Q96D53
    Tissue specificity: Widely expressed, including renal podocytes

        Custom PCR Arrays for ADCK4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ADCK4
    OriGene qSTAR qPCR primer pairs in human, mouse for ADCK4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK4
    QuantiTect SYBR Green Assays in human, mouse, rat ADCK4
    QuantiFast Probe-based Assays in human, mouse, rat ADCK4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK4

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ADCK4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adck41 , 5 aarF domain containing kinase 41, 5 85.24(n)1
    87.6(a)1
      7 (15.85 cM)5
    768891  NM_133770.21  NP_598531.21 
     272330235 
    lizard
    (Anolis carolinensis)
    Reptilia ADCK46
    aarF domain containing kinase 4
    69(a)
    1 ↔ 1
    LGf(2714003-2729374)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adck41 aarF domain containing kinase 4 63.8(n)
    66.6(a)
      100489004  XM_002938817.2  XP_002938863.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adck46
    aarF domain containing kinase 4
    51(a)
    1 ↔ 1
    15(13607991-13643370) ENSDARG00000011955
    fruit fly
    (Drosophila melanogaster)
    Insecta CG326491 CG32649 57.42(n)
    53.44(a)
      32239  NM_132608.4  NP_572836.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coq-86
    Protein COQ-8 (coq-8) mRNA, complete cds
    30(a)
    1 → many
    III(4863427-4866950) WBGene00000767
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ86
    Protein required for ubiquinone (coenzyme Q) biosy...
    39(a)
    1 → many
    VII(284442-285947) YGL119W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ABC11 ABC1 50.33(n)
    45.32(a)
      828127  NM_116396.3  NP_192075.1 
    rice
    (Oryza sativa)
    Liliopsida NM_183761.12   -- 81.42(n)    NM_183761.1 


    ENSEMBL Gene Tree for ADCK4 (if available)
    TreeFam Gene Tree for ADCK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ADCK4 gene
    ADCK32  
    2 SIMAP similar genes for ADCK4 using alignment to 11 protein entries:     ADCK4_HUMAN (see all proteins):
    CABC1    ADCK3

    ADCK4 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ADCK4 (see all 716)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0705564
    Nephrotic syndrome 9 (NPHS9)4--see VAR_0705562 R Q mis40--------
    VAR_0705534
    Nephrotic syndrome 9 (NPHS9)4--see VAR_0705532 D G mis40--------
    VAR_0705554
    Nephrotic syndrome 9 (NPHS9)4--see VAR_0705552 R W mis40--------
    VAR_0705524
    Nephrotic syndrome 9 (NPHS9)4--see VAR_0705522 R W mis40--------
    VAR_0705544
    Nephrotic syndrome 9 (NPHS9)4--see VAR_0705542 R W mis40--------
    rs2004808311,2
    Cuntested141395697(+) CAAGGC/G/TCTGCA 4 T A mis11EU 1277
    rs711736721,2
    C--41202570(+) AAAAAA/-TACTC 2 -- int11Minor allele frequency- -:0.00NA 2
    rs359300911,2
    C--41203020(+) TGACA-/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs15601531,2
    C--41203756(-) TCTCTC/ATATAT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs72555081,2
    C,A--41203758(+) atataG/Tagaga 2 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for ADCK4 (41197434 - 41224112 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ADCK4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718567CNV Deletion23290073
    dgv3871n71CNV Loss21882294
    esv259622OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCK4
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 615567   
    OMIM disorders: 615573  
    UniProtKB/Swiss-Prot: ADCK4_HUMAN, Q96D53
  • Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically
    characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney
    biopsies show focal segmental glomerulosclerosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 6 diseases for ADCK4:    
    About MalaCards
    nephrotic syndrome, type 9    focal segmental glomerulosclerosis    kawasaki disease    choroiditis
    tuberculosis    malaria


    ADCK4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ADCK4
    Human Genome Epidemiology (HuGE) Navigator: ADCK4 (2 documents)

    Export disorders for ADCK4 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

    TryGeneCards Plus

    PubMed articles for ADCK4 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with ADCK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (PubMed id 24270420)1, 2 Ashraf S....Hildebrandt F. (J. Clin. Invest. 2013)
    2. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. (PubMed id 22081228)1, 4 Khor C.C.... . (Nat. Genet. 2011)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 79934 HGNC: 19041 AceView: ADCK4 Ensembl:ENSG00000123815 euGenes: HUgn79934
    ECgene: ADCK4 H-InvDB: ADCK4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ADCK4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ADCK4 gene:
    Search GeneIP for patents involving ADCK4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ADCK4   OriGene RNAi products in human, mouse, rat for ADCK4  
     OriGene qPCR primer pairs and template standards for ADCK4   OriGene Protein Over-expression Lysate for ADCK4  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ADCK4  
     OriGene qSTAR qPCR primer pairs in human, mouse for ADCK4   OriGene Purified Protein for ADCK4  
     OriGene ORF clones in mouse, rat for ADCK4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ADCK4   OriGene Custom Protein Services for ADCK4  

     
     
     Block miRNA regulation of human, mouse, rat ADCK4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ADCK4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCK4 Predesigned siRNA for gene silencing in human, mouse, rat ADCK4
     QuantiFast Probe-based Assays in human, mouse, rat ADCK4 QuantiTect SYBR Green Assays in human, mouse, rat ADCK4
     Custom PCR Arrays for ADCK4 Search Chromatin IP Primers for ADCK4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCK4  Search GeneGlobe Interaction Network for ADCK4
     Regulatory tfbs in ADCK4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ADCK4 GenScript cDNA clones with any tag delivered in your preferred vector for ADCK4
     GenScript Custom Assay Services for ADCK4 GenScript Custom overexpressing Cell Line Services for ADCK4
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ADCK4
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ADCK4
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ADCK4 antibodies
     ADCK4 proteins
     ADCK4 lysates
     Antibodies for ADCK4
     See all of Abcam's Antibodies, Kits and Proteins for ADCK4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ADCK4
     Antibodies for ADCK4
     ELISAs for ADCK4
     CLIAs for ADCK4



     Browse ESI BIO Cell Lines and PureStem Progenitors for ADCK4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCK4
     SwitchGear 3'UTR luciferase reporter plasmids for ADCK4
     SwitchGear Promoter luciferase reporter plasmids for ADCK4
     ThermoFisher Antibodies for ADCK4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCK4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADCK4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADCK4
     LSBio Antibodies in human, mouse, rat for ADCK4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ADCK4 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4