Aliases for KIAA0930 Gene

Aliases for KIAA0930 Gene

  • KIAA0930 2 3 5
  • Uncharacterized Protein KIAA0930 3 4
  • C22orf9 3 4
  • Chromosome 22 Open Reading Frame 9 2
  • BK268H5.C22.1 2
  • 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. Diseases associated with KIAA0930 include Diffuse Pulmonary Fibrosis.

Gene Wiki entry for KIAA0930 Gene

Additional gene information for KIAA0930 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIAA0930 Gene

Genomics for KIAA0930 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA0930 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
GH22J045240 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 606.4 +0.2 181 2.6 SP1 HNRNPL ZNF629 LARP7 ZIC2 RBFOX2 POLR2A PATZ1 NR2C1 ZNF341 KIAA0930 lnc-SMC1B-5 piR-36678-002 PHF21B NUP50
GH22J045207 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 680.5 +30.0 30031 6.3 CTCF RFX1 IKZF1 JUND FOXA1 ZIC2 ZSCAN4 PKNOX1 PATZ1 REST KIAA0930 lnc-SMC1B-6 NUP50 NUP50-DT LINC00899 MIR1249
GH22J045201 Promoter/Enhancer 0.6 EPDnew ENCODE 600.3 +40.6 40640 0.1 POLR2A MIR1249 KIAA0930 lnc-SMC1B-7 NUP50
GH22J045200 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 59.3 +37.3 37339 6.5 FOXA1 PKNOX1 CEBPB ZNF316 FOS ZFHX2 POLR2A BHLHE40 MAFK GLI4 KIAA0930 NUP50-DT NUP50 MIR1249 lnc-SMC1B-6
GH22J045216 Enhancer 0.8 ENCODE dbSUPER 53 +24.4 24425 0.9 ATF7 REST PRDM1 CREB1 ATF2 MIER1 EHMT2 BHLHE40 SIN3A ZNF143 KIAA0930 NUP50 NUP50-DT lnc-SMC1B-6 lnc-SMC1B-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0930 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0930

Genomic Locations for KIAA0930 Gene

Genomic Locations for KIAA0930 Gene
chr22:45,190,338-45,240,894
(GRCh38/hg38)
Size:
50,557 bases
Orientation:
Minus strand
chr22:45,586,219-45,636,650
(GRCh37/hg19)
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 Lys365
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0930 Gene

Domains & Families for KIAA0930 Gene

Gene Families for KIAA0930 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIAA0930 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIAA0930 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79532 (B0AZU2_HUMAN)
  • Chromosome 22 open reading frame 9 (B0QY16_HUMAN)
  • C22orf9 protein (Q8IUY4_HUMAN)
genes like me logo Genes that share domains with KIAA0930: view

No data available for Graphical View of Domain Structure 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 From GWAS Catalog for KIAA0930 Gene

Gene Ontology (GO) - Molecular Function for KIAA0930 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KIAA0930: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0930

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA0930 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with KIAA0930: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIAA0930 Gene

Pathways & Interactions for KIAA0930 Gene

PathCards logo

SuperPathways for KIAA0930 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA0930 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with KIAA0930: view

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

mRNA/cDNA for KIAA0930 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0930

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

Expression for KIAA0930 Gene

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



Protein tissue co-expression partners for KIAA0930 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA0930

SOURCE GeneReport for Unigene cluster for KIAA0930 Gene:

Hs.592207

Evidence on tissue expression from TISSUES for KIAA0930 Gene

  • Nervous system(4.4)
  • Skin(2.1)
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 30 31
  • 92.08 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia KIAA0930 30
  • 91.96 (n)
Cow
(Bos Taurus)
Mammalia KIAA0930 30 31
  • 91.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1304694 30
  • 90.65 (n)
Mouse
(Mus musculus)
Mammalia 5031439G07Rik 30 17 31
  • 89.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0930 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA0930 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0930 30 31
  • 80.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0930 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0930 30
  • 80.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53303 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:172139 30 31
  • 82.05 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9646 31 32
  • 19 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C16E9.2a 32
  • 37 (a)
C16E9.2 31
  • 33 (a)
OneToOne
Species where no ortholog for KIAA0930 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0930: view image

Paralogs for KIAA0930 Gene

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

  • K0930_HUMAN
  • B0AZU2_HUMAN
  • B0QY16_HUMAN
  • B0QY18_HUMAN
  • B0QY20_HUMAN
  • F8WD08_HUMAN
  • H7C1U5_HUMAN
  • V9GYW7_HUMAN
  • V9GZ62_HUMAN
genes like me logo Genes that share paralogs with KIAA0930: view

No data available for Paralogs for KIAA0930 Gene

Variants for KIAA0930 Gene

Additional dbSNP identifiers (rs#s) for KIAA0930 Gene

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)

Additional Variant Information for KIAA0930 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0930 Gene

Disorders for KIAA0930 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIAA0930 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diffuse pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KIAA0930: view

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

Products for KIAA0930 Gene

Sources for KIAA0930 Gene