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Aliases for C9orf43 Gene

Aliases for C9orf43 Gene

  • Chromosome 9 Open Reading Frame 43 2 3 5

External Ids for C9orf43 Gene

Previous GeneCards Identifiers for C9orf43 Gene

  • GC09P111549
  • GC09P113252
  • GC09P115212
  • GC09P116172
  • GC09P085779

Summaries for C9orf43 Gene

GeneCards Summary for C9orf43 Gene

C9orf43 (Chromosome 9 Open Reading Frame 43) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf43 Gene

Genomics for C9orf43 Gene

Regulatory Elements for C9orf43 Gene

Enhancers for C9orf43 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
GH09F113463 0.2 ENCODE 54.4 +54.0 54000 1.9 KLF17 ARID4B SIN3A DMAP1 ZNF48 RAD21 ZNF2 GLIS2 SCRT2 ZNF263 C9orf43 RGS3 POLE3 ALAD RNF183 CDC26 PRPF4 GC09P113741
GH09F113576 1.1 FANTOM5 Ensembl ENCODE 54 +169.9 169931 6.8 HDGF PKNOX1 WRNIP1 SIN3A YY1 ZNF766 ZNF143 ZNF207 FOS JUNB C9orf43 RGS3 ALAD POLE3 RNF183 LOC105376221 GC09P113739
GH09F113587 1.1 Ensembl ENCODE 53.6 +178.8 178816 3.6 HDGF CTCF YBX1 ZIC2 RAD21 ZNF366 POLR2A SMC3 ZNF654 MIER1 C9orf43 RGS3 ALAD POLE3 RNF183 PRPF4 CDC26 LOC105376221 GC09P113739
GH09F113483 1.1 Ensembl ENCODE 53.4 +74.8 74766 2.4 SOX13 JUN ZNF384 CEBPG ZNF316 ZNF239 FOS ZNF362 NFIA MAFG C9orf43 RGS3 ZFP37 ALAD POLE3 RNF183 SLC31A2 GC09P113741
GH09F113573 0.5 Ensembl ENCODE 53.3 +164.5 164468 2.6 HDGF ELF3 PKNOX1 RAD21 ZSCAN9 YY1 RARA KAT2B CREM MIXL1 C9orf43 RGS3 POLE3 ALAD RNF183 GC09P113739 LOC105376221
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C9orf43 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001312052 546 2800 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 ZNF207

Genomic Location for C9orf43 Gene

Chromosome:
9
Start:
113,410,054 bp from pter
End:
113,429,684 bp from pter
Size:
19,631 bases
Orientation:
Plus strand

Genomic View for C9orf43 Gene

Genes around C9orf43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf43 Gene

Proteins for C9orf43 Gene

  • Protein details for C9orf43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAL5-CI043_HUMAN
    Recommended name:
    Uncharacterized protein C9orf43
    Protein Accession:
    Q8TAL5

    Protein attributes for C9orf43 Gene

    Size:
    461 amino acids
    Molecular mass:
    52222 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf43 Gene

Post-translational modifications for C9orf43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf43 Gene

No data available for DME Specific Peptides for C9orf43 Gene

Domains & Families for C9orf43 Gene

Protein Domains for C9orf43 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf43: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf43 Gene

Function for C9orf43 Gene

Gene Ontology (GO) - Molecular Function for C9orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25814554
genes like me logo Genes that share ontologies with C9orf43: view
genes like me logo Genes that share phenotypes with C9orf43: view

Animal Models for C9orf43 Gene

MGI Knock Outs for C9orf43:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf43 Gene

Localization for C9orf43 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf43 Gene COMPARTMENTS Subcellular localization image for C9orf43 gene
Compartment Confidence
cytosol 3
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf43 Gene

Pathways & Interactions for C9orf43 Gene

SuperPathways for C9orf43 Gene

No Data Available

Interacting Proteins for C9orf43 Gene

Selected Interacting proteins: Q8TAL5-CI043_HUMAN for C9orf43 Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for C9orf43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf43 Gene

Transcripts for C9orf43 Gene

Unigene Clusters for C9orf43 Gene

Chromosome 9 open reading frame 43:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf43 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - - -
SP2: - - - -
SP3:
SP4: - - - - - -
SP5:

Relevant External Links for C9orf43 Gene

GeneLoc Exon Structure for
C9orf43
ECgene alternative splicing isoforms for
C9orf43

Expression for C9orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9orf43 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf43 Gene

This gene is overexpressed in Testis (x33.0).

Protein differential expression in normal tissues from HIPED for C9orf43 Gene

This gene is overexpressed in Pancreas (42.2), Lung (10.6), and Bone (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf43 Gene



NURSA nuclear receptor signaling pathways regulating expression of C9orf43 Gene:

C9orf43

SOURCE GeneReport for Unigene cluster for C9orf43 Gene:

Hs.632691
genes like me logo Genes that share expression patterns with C9orf43: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C9orf43 Gene

Orthologs for C9orf43 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C9orf43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf43 34
  • 98.75 (n)
C9orf43 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf43 34
  • 76.03 (n)
C9orf43 35
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11H9orf43 34
  • 74.96 (n)
C9orf43 35
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933430I17Rik 34 16 35
  • 64.6 (n)
rat
(Rattus norvegicus)
Mammalia LOC500475 34
  • 63.97 (n)
Species where no ortholog for C9orf43 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)
  • 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)
  • 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 C9orf43 Gene

ENSEMBL:
Gene Tree for C9orf43 (if available)
TreeFam:
Gene Tree for C9orf43 (if available)

Paralogs for C9orf43 Gene

No data available for Paralogs for C9orf43 Gene

Variants for C9orf43 Gene

Sequence variations from dbSNP and Humsavar for C9orf43 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10116799 -- 113,422,027(+) agttt(C/T)atggc intron-variant
rs10465130 -- 113,409,903(+) TGTTG(G/T)GTTAT intron-variant, upstream-variant-2KB
rs10981783 -- 113,409,405(+) AAAAA(A/C)AAAAA intron-variant, upstream-variant-2KB
rs10981785 -- 113,419,800(+) actga(C/G)atggg intron-variant
rs10981786 -- 113,420,760(+) TGTGG(C/G)ATCTA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for C9orf43 Gene

Variant ID Type Subtype PubMed ID
esv3621540 CNV gain 21293372

Variation tolerance for C9orf43 Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.61; 78.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf43 Gene

Disorders for C9orf43 Gene

Relevant External Links for C9orf43

Human Genome Epidemiology (HuGE) Navigator
C9orf43
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf43

No disorders were found for C9orf43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf43 Gene

Publications for C9orf43 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  2. 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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  5. Protein array based interactome analysis of amyloid-I^ indicates an inhibition of protein translation. (PMID: 21244100) Virok D.P. … FA1lAPp L. (J. Proteome Res. 2011) 3 64

Products for C9orf43 Gene

Sources for C9orf43 Gene

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