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Aliases for KIAA0040 Gene

Aliases for KIAA0040 Gene

  • KIAA0040 2 3

External Ids for KIAA0040 Gene

Previous GeneCards Identifiers for KIAA0040 Gene

  • GC01M172650
  • GC01M170554
  • GC01M171706
  • GC01M172365
  • GC01M171857
  • GC01M173392
  • GC01M146352

Summaries for KIAA0040 Gene

GeneCards Summary for KIAA0040 Gene

KIAA0040 (KIAA0040) is a Protein Coding gene.

Additional gene information for KIAA0040 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0040 Gene

Genomics for KIAA0040 Gene

GeneHancer (GH) Regulatory Elements for KIAA0040 Gene

Promoters and enhancers for KIAA0040 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
GH01I175188 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.3 -0.3 -254 10.7 PKNOX1 ATF1 SIN3A ZBTB7B IRF4 YY1 GLIS2 E2F8 FOS RUNX3 KIAA0040 ENSG00000230687
GH01I175124 Enhancer 1.1 FANTOM5 Ensembl 15.1 +68.0 67986 1 HDGF ARNT NEUROD1 YBX1 ZNF2 ARID2 ZNF143 MCM5 REST SNIP1 KIAA0040 TNN
GH01I175207 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.5 -16.4 -16408 3.2 INSM2 FEZF1 RAD21 YY1 ZNF766 ZNF213 ZNF366 SCRT2 ETV6 IKZF2 KIAA0040 ENSG00000230687 GC01P175221
GH01I174871 Enhancer 1 ENCODE dbSUPER 10.5 +320.9 320929 2 HDAC1 YBX3 HDGF ATF1 ARNT TCF12 ATF7 RUNX3 CREM CEBPB RABGAP1L KIAA0040 GC01M174850 ENSG00000237249
GH01I175176 Enhancer 0.6 FANTOM5 dbSUPER 16.8 +16.6 16590 0.4 ZNF362 KIAA0040 TNR TNN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIAA0040 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIAA0040 gene promoter:

Genomic Locations for KIAA0040 Gene

Genomic Locations for KIAA0040 Gene
chr1:175,156,987-175,193,093
(GRCh38/hg38)
Size:
36,107 bases
Orientation:
Minus strand
chr1:175,126,123-175,162,229
(GRCh37/hg19)

Genomic View for KIAA0040 Gene

Genes around KIAA0040 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0040 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0040 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0040 Gene

Proteins for KIAA0040 Gene

  • Protein details for KIAA0040 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15053-K0040_HUMAN
    Recommended name:
    Uncharacterized protein KIAA0040
    Protein Accession:
    Q15053
    Secondary Accessions:
    • A8K9H6
    • Q2NKQ0

    Protein attributes for KIAA0040 Gene

    Size:
    153 amino acids
    Molecular mass:
    17035 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA05022.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KIAA0040 Gene

Post-translational modifications for KIAA0040 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KIAA0040 Gene

Domains & Families for KIAA0040 Gene

Gene Families for KIAA0040 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA0040 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0040: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KIAA0040 Gene

Function for KIAA0040 Gene

Phenotypes From GWAS Catalog for KIAA0040 Gene

Gene Ontology (GO) - Molecular Function for KIAA0040 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KIAA0040: view

Phenotypes for KIAA0040 Gene

GenomeRNAi human phenotypes for KIAA0040:
genes like me logo Genes that share phenotypes with KIAA0040: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0040 Gene

Localization for KIAA0040 Gene

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KIAA0040 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIAA0040: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for KIAA0040 Gene

Pathways & Interactions for KIAA0040 Gene

SuperPathways for KIAA0040 Gene

No Data Available

Interacting Proteins for KIAA0040 Gene

Selected Interacting proteins: Q15053-K0040_HUMAN for KIAA0040 Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for KIAA0040 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0040 Gene

Drugs & Compounds for KIAA0040 Gene

No Compound Related Data Available

Transcripts for KIAA0040 Gene

Unigene Clusters for KIAA0040 Gene

KIAA0040:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0040 Gene

No ASD Table

Relevant External Links for KIAA0040 Gene

GeneLoc Exon Structure for
KIAA0040
ECgene alternative splicing isoforms for
KIAA0040

Expression for KIAA0040 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0040 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA0040 Gene

This gene is overexpressed in Whole Blood (x8.4).

NURSA nuclear receptor signaling pathways regulating expression of KIAA0040 Gene:

KIAA0040

SOURCE GeneReport for Unigene cluster for KIAA0040 Gene:

Hs.518138
genes like me logo Genes that share expression patterns with KIAA0040: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0040 Gene

Orthologs for KIAA0040 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA0040 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia KIAA0040 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100302372 33
  • 82.83 (n)
mouse
(Mus musculus)
Mammalia 4930523C07Rik 33 16 34
  • 82.49 (n)
cow
(Bos Taurus)
Mammalia LOC100335299 33
  • 81.14 (n)
chicken
(Gallus gallus)
Aves KIAA0040 33 34
  • 71.77 (n)
Species where no ortholog for KIAA0040 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KIAA0040 Gene

ENSEMBL:
Gene Tree for KIAA0040 (if available)
TreeFam:
Gene Tree for KIAA0040 (if available)

Paralogs for KIAA0040 Gene

No data available for Paralogs for KIAA0040 Gene

Variants for KIAA0040 Gene

Sequence variations from dbSNP and Humsavar for KIAA0040 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000334190 -- 175,192,502(-) C/A intron_variant
rs1000405267 -- 175,162,123(-) C/T intron_variant
rs1000490125 -- 175,192,971(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000549416 -- 175,181,532(-) T/C intron_variant
rs1000551454 -- 175,156,793(-) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0040 Gene

Variant ID Type Subtype PubMed ID
esv28699 CNV loss 19812545
esv3587982 CNV loss 21293372
nsv522101 CNV loss 19592680
nsv528874 CNV loss 19592680
nsv952252 CNV duplication 24416366

Variation tolerance for KIAA0040 Gene

Gene Damage Index Score: 2.10; 38.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA0040 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0040

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0040 Gene

Disorders for KIAA0040 Gene

Additional Disease Information for KIAA0040

No disorders were found for KIAA0040 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0040 Gene

Publications for KIAA0040 Gene

  1. Family-based association analysis of alcohol dependence implicates KIAA0040 on Chromosome 1q in multiplex alcohol dependence families. (PMID: 24829844) Hill SY … Stiffler S (Open journal of genetics 2013) 2 3 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. (PMID: 21956439) Zuo L … Luo X (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2012) 3 58

Products for KIAA0040 Gene

Sources for KIAA0040 Gene

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