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Aliases for KIAA0930 Gene

Aliases for KIAA0930 Gene

  • KIAA0930 2 3
  • C22orf9 3 4
  • Chromosome 22 Open Reading Frame 9 2
  • Uncharacterized Protein KIAA0930 3
  • LSC3 3

External Ids for KIAA0930 Gene

Previous HGNC Symbols for KIAA0930 Gene

  • C22orf9

Previous GeneCards Identifiers for KIAA0930 Gene

  • GC22M042225
  • GC22M043866
  • GC22M043868
  • GC22M045589

Summaries for KIAA0930 Gene

GeneCards Summary for KIAA0930 Gene

KIAA0930 (KIAA0930) is a Protein Coding gene.

Gene Wiki entry for KIAA0930 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0930 Gene

Genomics for KIAA0930 Gene

Regulatory Elements for KIAA0930 Gene

Enhancers for KIAA0930 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G045207 1.1 ENCODE dbSUPER 80.5 +30.0 30047 6.0 PKNOX1 FOXA2 RB1 ZSCAN4 SIN3A BMI1 RAD21 GLIS2 SCRT2 FOS KIAA0930 NUP50 NUP50-AS1 LINC00899 GC22P045213 MIR1249
GH22G045216 1.2 Ensembl ENCODE dbSUPER 53 +24.3 24261 1.0 ATF1 MIER1 BHLHE40 MIER2 REST ATF2 MAFF SMARCA4 POLR2A IRF1 KIAA0930 NUP50-AS1 NUP50 GC22P045213
GH22G045200 0.9 ENCODE 51.8 +39.2 39172 2.6 ELF3 PKNOX1 FOXA2 ZFP64 ARID4B DMAP1 GLI4 ZSCAN9 ZNF48 RAD21 KIAA0930 ENSG00000273243 LINC00899 ENSG00000273145 NUP50-AS1 MIR1249 GC22P045213
GH22G045224 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +12.6 12613 7.4 ARID4B RARA THAP11 EGR2 CEBPB ZHX2 TGIF2 ZFP69B SMARCA4 ZNF341 KIAA0930 MIR1249 NUP50 NUP50-AS1 GC22P045213
GH22G045233 1.5 Ensembl ENCODE dbSUPER 16.4 +5.0 4955 4.0 FOXA2 SIN3A ARID4B ZNF48 ZNF207 SP5 MXD4 JUNB PPARG NFIL3 KIAA0930 MIR1249 GC22P045213
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIAA0930 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0930 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147163 269 1801 HDGF FOXA2 KLF17 DEAF1 THRB ZNF48 RARA TCF12 GLIS2 KLF7

Genomic Location for KIAA0930 Gene

Chromosome:
22
Start:
45,190,338 bp from pter
End:
45,240,769 bp from pter
Size:
50,432 bases
Orientation:
Minus strand

Genomic View for KIAA0930 Gene

Genes around KIAA0930 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0930 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0930 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0930 Gene

Proteins for KIAA0930 Gene

  • Protein details for KIAA0930 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ICG6-K0930_HUMAN
    Recommended name:
    Uncharacterized protein KIAA0930
    Protein Accession:
    Q6ICG6
    Secondary Accessions:
    • B0QY17
    • B0QY19
    • B3KT48
    • Q6ZVE5
    • Q7Z6K9
    • Q8IZ76
    • Q9Y2E2

    Protein attributes for KIAA0930 Gene

    Size:
    404 amino acids
    Molecular mass:
    45794 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KIAA0930 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0930 Gene

Post-translational modifications for KIAA0930 Gene

  • Ubiquitination at isoforms=2, 3365
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0930 Gene

Domains & Families for KIAA0930 Gene

Protein Domains for KIAA0930 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0930 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KIAA0930: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KIAA0930 Gene

Function for KIAA0930 Gene

Molecular function for KIAA0930 Gene

GENATLAS Biochemistry:
related to C elegans cos C16E9

Phenotypes for KIAA0930 Gene

GenomeRNAi human phenotypes for KIAA0930:
genes like me logo Genes that share phenotypes with KIAA0930: view

Animal Model Products

CRISPR Products

miRNA for KIAA0930 Gene

miRTarBase miRNAs that target KIAA0930

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIAA0930 Gene

Localization for KIAA0930 Gene

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 KIAA0930 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KIAA0930 Gene

Pathways & Interactions for KIAA0930 Gene

SuperPathways for KIAA0930 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0930 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0930 Gene

Drugs & Compounds for KIAA0930 Gene

No Compound Related Data Available

Transcripts for KIAA0930 Gene

Unigene Clusters for KIAA0930 Gene

KIAA0930:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0930 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^
SP1: - - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: -
SP9: -
SP10: - -
SP11: - - - - - - -
SP12:
SP13:
SP14:

ExUns: 18a · 18b ^ 19a · 19b · 19c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12: -
SP13:
SP14:

Relevant External Links for KIAA0930 Gene

GeneLoc Exon Structure for
KIAA0930
ECgene alternative splicing isoforms for
KIAA0930

Expression for KIAA0930 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0930 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIAA0930 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.9) and Monocytes (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA0930 Gene



Protein tissue co-expression partners for KIAA0930 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIAA0930 Gene:

KIAA0930

SOURCE GeneReport for Unigene cluster for KIAA0930 Gene:

Hs.592207

Evidence on tissue expression from TISSUES for KIAA0930 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KIAA0930: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0930 Gene

Orthologs for KIAA0930 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0930 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia KIAA0930 34 35
  • 92.08 (n)
chimpanzee
(Pan troglodytes)
Mammalia KIAA0930 34
  • 91.96 (n)
cow
(Bos Taurus)
Mammalia KIAA0930 34 35
  • 91.91 (n)
rat
(Rattus norvegicus)
Mammalia RGD1304694 34
  • 90.65 (n)
mouse
(Mus musculus)
Mammalia 5031439G07Rik 34 16 35
  • 89.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0930 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0930 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0930 34 35
  • 80.18 (n)
lizard
(Anolis carolinensis)
Reptilia KIAA0930 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0930 34
  • 80.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53303 34
zebrafish
(Danio rerio)
Actinopterygii zgc:172139 34 35
  • 82.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9646 36 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea C16E9.2a 36
  • 37 (a)
C16E9.2 35
  • 33 (a)
OneToOne
Species where no ortholog for KIAA0930 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 (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)
  • wheat (Triticum aestivum)

Evolution for KIAA0930 Gene

ENSEMBL:
Gene Tree for KIAA0930 (if available)
TreeFam:
Gene Tree for KIAA0930 (if available)

Paralogs for KIAA0930 Gene

(1) SIMAP similar genes for KIAA0930 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with KIAA0930: view

No data available for Paralogs for KIAA0930 Gene

Variants for KIAA0930 Gene

Sequence variations from dbSNP and Humsavar for KIAA0930 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000019227 -- 45,216,157(+) GGAGG(A/G)ATATC intron-variant
rs1000121683 -- 45,218,778(+) GTCAC(C/G)TGGTG intron-variant
rs1000182330 -- 45,218,119(+) CGTGA(C/T)GACAG intron-variant
rs1000302411 -- 45,223,674(+) TCAGC(A/C)TTAAG intron-variant
rs1000421327 -- 45,241,620(+) GGAGA(A/G)GCAGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KIAA0930 Gene

Variant ID Type Subtype PubMed ID
dgv740e201 CNV deletion 23290073
esv1008540 CNV deletion 20482838
esv1262903 CNV deletion 17803354
esv22242 CNV gain 19812545
esv2677451 CNV deletion 23128226
esv2724391 CNV deletion 23290073
esv2724392 CNV deletion 23290073
esv2724394 CNV deletion 23290073
esv2758843 CNV gain 17122850
esv2925 CNV loss 18987735
esv3647920 CNV loss 21293372
esv5567 CNV loss 19470904
nsv1127923 CNV deletion 24896259
nsv1144030 CNV deletion 24896259
nsv1150064 CNV insertion 26484159
nsv589125 CNV loss 21841781
nsv589126 CNV gain 21841781
nsv829278 CNV loss 20364138
nsv829279 CNV gain 20364138
nsv834220 CNV loss 17160897
nsv955173 CNV deletion 24416366
nsv9920 CNV gain 18304495

Variation tolerance for KIAA0930 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0930 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0930

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0930 Gene

Disorders for KIAA0930 Gene

Relevant External Links for KIAA0930

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0930

No disorders were found for KIAA0930 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIAA0930 Gene

Publications for KIAA0930 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for KIAA0930 Gene

Sources for KIAA0930 Gene

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