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Aliases for ADCK4 Gene

Aliases for ADCK4 Gene

  • AarF Domain Containing Kinase 4 2 3 5
  • EC 2.7.11.25 63
  • EC 2.7.11.1 63
  • EC 2.7.11.- 4
  • EC 2.7.11 63
  • NPHS9 3

External Ids for ADCK4 Gene

Previous GeneCards Identifiers for ADCK4 Gene

  • GC19M045873
  • GC19M045889
  • GC19M041199
  • GC19M037630

Summaries for ADCK4 Gene

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 nephrotic syndrome. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is ADCK3.

UniProtKB/Swiss-Prot for ADCK4 Gene

  • May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCK4 Gene

Genomics for ADCK4 Gene

Regulatory Elements for ADCK4 Gene

Promoters for ADCK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADCK4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADCK4 Gene

Chromosome:
19
Start:
40,691,529 bp from pter
End:
40,718,207 bp from pter
Size:
26,679 bases
Orientation:
Minus strand

Genomic View for ADCK4 Gene

Genes around ADCK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCK4 Gene

Proteins for ADCK4 Gene

  • Protein details for ADCK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D53-ADCK4_HUMAN
    Recommended name:
    AarF domain-containing protein kinase 4
    Protein Accession:
    Q96D53
    Secondary Accessions:
    • Q8TAJ1
    • Q9HA52

    Protein attributes for ADCK4 Gene

    Size:
    544 amino acids
    Molecular mass:
    60069 Da
    Quaternary structure:
    • Homodimer; homodimerizes via its transmembrane region (PubMed:25216398). Interacts with COQ6 and COQ7 (PubMed:24270420).

    Alternative splice isoforms for ADCK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCK4 Gene

Proteomics data for ADCK4 Gene at MOPED

Selected DME Specific Peptides for ADCK4 Gene

Post-translational modifications for ADCK4 Gene

  • Ubiquitination at Lys 424
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ADCK4 Gene

Gene Families for ADCK4 Gene

Protein Domains for ADCK4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ADCK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96D53

UniProtKB/Swiss-Prot:

ADCK4_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with ADCK4: view

Function for ADCK4 Gene

Molecular function for ADCK4 Gene

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

Enzyme Numbers (IUBMB) for ADCK4 Gene

genes like me logo Genes that share phenotypes with ADCK4: view

Human Phenotype Ontology for ADCK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ADCK4 Gene

miRTarBase miRNAs that target ADCK4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ADCK4 Gene

Localization for ADCK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCK4 Gene

Mitochondrion membrane; Single-pass membrane protein. Cytoplasm, cytosol. Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADCK4 Gene COMPARTMENTS Subcellular localization image for ADCK4 gene
Compartment Confidence
cytosol 5
mitochondrion 5
plasma membrane 4
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for ADCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ADCK4: view

Pathways & Interactions for ADCK4 Gene

SuperPathways for ADCK4 Gene

No Data Available

Interacting Proteins for ADCK4 Gene

Gene Ontology (GO) - Biological Process for ADCK4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ADCK4 Gene

Drugs & Compounds for ADCK4 Gene

No Compound Related Data Available

Transcripts for ADCK4 Gene

Unigene Clusters for ADCK4 Gene

AarF domain containing kinase 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADCK4 Gene

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: - -
SP6:

Relevant External Links for ADCK4 Gene

GeneLoc Exon Structure for
ADCK4
ECgene alternative splicing isoforms for
ADCK4

Expression for ADCK4 Gene

mRNA expression in normal human tissues for ADCK4 Gene

Protein differential expression in normal tissues from HIPED for ADCK4 Gene

This gene is overexpressed in Bone (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ADCK4 Gene



SOURCE GeneReport for Unigene cluster for ADCK4 Gene Hs.130712

mRNA Expression by UniProt/SwissProt for ADCK4 Gene

Q96D53-ADCK4_HUMAN
Tissue specificity: Widely expressed, including renal podocytes.
genes like me logo Genes that share expression patterns with ADCK4: view

Protein tissue co-expression partners for ADCK4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ADCK4 Gene

Orthologs for ADCK4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ADCK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCK4 36
  • 95 (a)
OneToOne
ADCK4 35
  • 99.68 (n)
  • 99.52 (a)
cow
(Bos Taurus)
Mammalia ADCK4 35
  • 89.63 (n)
  • 90.46 (a)
ADCK4 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCK4 36
  • 91 (a)
OneToOne
ADCK4 35
  • 90.63 (n)
  • 90.3 (a)
mouse
(Mus musculus)
Mammalia Adck4 16
Adck4 36
  • 86 (a)
OneToOne
Adck4 35
  • 85.24 (n)
  • 87.6 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCK4 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADCK4 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adck4 35
  • 84.52 (n)
  • 85.93 (a)
lizard
(Anolis carolinensis)
Reptilia ADCK4 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adck4 35
  • 63.8 (n)
  • 66.6 (a)
zebrafish
(Danio rerio)
Actinopterygii adck4 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002906 35
  • 57.9 (n)
  • 53.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32649 35
  • 57.42 (n)
  • 53.44 (a)
CG32649 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea coq-8 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ8 36
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ABC1 35
  • 50.33 (n)
  • 45.32 (a)
rice
(Oryza sativa)
Liliopsida Os01g0318700 35
  • 52.81 (n)
  • 45.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9270 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for ADCK4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADCK4 Gene

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

Paralogs for ADCK4 Gene

Paralogs for ADCK4 Gene

genes like me logo Genes that share paralogs with ADCK4: view

Variants for ADCK4 Gene

Sequence variations from dbSNP and Humsavar for ADCK4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3865452 - 40,705,151(+) AGATG(C/T)GCTGC reference, missense
rs11538384 - 40,714,124(-) GTGAC(C/T)GCTCT reference, missense
rs55899516 - 40,700,392(+) GTGTC(A/G)TGCAC reference, missense
rs36012476 - 40,700,155(+) ACAGC(C/G)TCAGG reference, missense
VAR_041423 -

Structural Variations from Database of Genomic Variants (DGV) for ADCK4 Gene

Variant ID Type Subtype PubMed ID
dgv3871n71 CNV Loss 21882294
esv2718567 CNV Deletion 23290073
esv259622 OTHER Complex 20981092

Variation tolerance for ADCK4 Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.32; 92.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCK4 Gene

HapMap Linkage Disequilibrium report
ADCK4
Human Gene Mutation Database (HGMD)
ADCK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCK4 Gene

Disorders for ADCK4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADCK4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 9
  • nephrotic syndrome type 9
nephrotic syndrome
  • finnish congenital nephrosis
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search ADCK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCK4_HUMAN
  • 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. {ECO:0000269 PubMed:24270420}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADCK4

Genetic Association Database (GAD)
ADCK4
Human Genome Epidemiology (HuGE) Navigator
ADCK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCK4
genes like me logo Genes that share disorders with ADCK4: view

No data available for Genatlas for ADCK4 Gene

Publications for ADCK4 Gene

  1. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (PMID: 24270420) Ashraf S. … Hildebrandt F. (J. Clin. Invest. 2013) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Protein interactions of the transcription factor Hoxa1. (PMID: 23088713) Lambert B. … Rezsohazy R. (BMC Dev. Biol. 2012) 3
  4. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. (PMID: 22081228) Khor C.C. … . (Nat. Genet. 2011) 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3

Products for ADCK4 Gene

Sources for ADCK4 Gene

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