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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.

Additional gene information for C9orf43 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 C9orf43 Gene

Genomics for C9orf43 Gene

GeneHancer (GH) Regulatory Elements for C9orf43 Gene

Promoters and enhancers for C9orf43 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
GH09I113409 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.4 +0.6 567 2.7 CLOCK DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 MEF2D ZNF610 GLIS1 C9orf43 POLE3 PRPF4 RGS3 FKBP15 CDC26
GH09I113463 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 54.4 +54.0 54000 1.9 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 SP3 NFYC REST ZNF610 RGS3 C9orf43 PRPF4 CDC26 POLE3 FKBP15 ALAD RNF183 GC09P114125
GH09I113563 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 52.9 +155.5 155452 3.1 HDAC1 PKNOX1 ARNT NFXL1 ZBTB40 POLR2B ATF7 IKZF2 RUNX3 EGR2 RGS3 C9orf43 RNF183 POLE3 CDC26 PRPF4 ALAD GC09P114124 GC09P114125
GH09I113500 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 43.1 +93.4 93420 6.3 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 RXRA RGS3 C9orf43 ALAD RNF183 GC09P114125
GH09I113577 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 54 +170.2 170169 6.3 HDGF PKNOX1 SIN3A IRF4 YY1 ZNF207 ZNF143 ATF7 FOS RUNX3 C9orf43 RGS3 POLE3 ALAD RNF183 LOC105376221 GC09P114124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9orf43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf43 gene promoter:

Genomic Locations for C9orf43 Gene

Genomic Locations for C9orf43 Gene
chr9:113,410,054-113,429,684
(GRCh38/hg38)
Size:
19,631 bases
Orientation:
Plus strand
chr9:116,172,334-116,191,964
(GRCh37/hg19)

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

Gene Families for C9orf43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf43 Gene

Function for C9orf43 Gene

Phenotypes From GWAS Catalog 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:

Clone 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
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 C9orf43 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000288462%0d%0a9606.ENSP00000251507%0d%0a
Selected Interacting proteins: Q8TAL5-CI043_HUMAN ENSP00000288462 for C9orf43 Gene via IID STRING UniProtKB

Gene Ontology (GO) - Biological Process for C9orf43 Gene

None

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

Drugs & Compounds for C9orf43 Gene

No Compound Related Data Available

Transcripts for C9orf43 Gene

Unigene Clusters for C9orf43 Gene

Chromosome 9 open reading frame 43:
Representative Sequences:

Clone 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 CGAP 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 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 33
  • 98.75 (n)
C9orf43 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf43 33
  • 76.03 (n)
C9orf43 34
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C11H9orf43 33
  • 74.96 (n)
C9orf43 34
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4933430I17Rik 33 16 34
  • 64.6 (n)
rat
(Rattus norvegicus)
Mammalia LOC500475 33
  • 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 Variation AA Info Type
rs1000055043 -- 113,425,280(+) C/T intron_variant
rs1000105441 -- 113,425,536(+) T/G intron_variant
rs1000122171 -- 113,418,944(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000243342 -- 113,419,259(+) G/C 5_prime_UTR_variant, intron_variant
rs1000276581 -- 113,411,362(+) G/C genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 SJ … Dunham I (Nature 2004) 3 4 58
  2. 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 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58

Products for C9orf43 Gene

Sources for C9orf43 Gene

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