Aliases for C9orf43 Gene

Aliases for C9orf43 Gene

  • Chromosome 9 Open Reading Frame 43 2 3 5
  • Uncharacterized Protein C9orf43 3 4
  • MGC17358 2
  • C9orf43 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C9orf43 Gene

Genomics for C9orf43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C9orf43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C9orf43

Top Transcription factor binding sites by QIAGEN in the C9orf43 gene promoter:
  • GR
  • GR-alpha
  • HFH-1
  • IRF-2
  • ITF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for C9orf43 Gene

Genomic Locations for C9orf43 Gene
chr9:113,410,054-113,429,690
(GRCh38/hg38)
Size:
19,637 bases
Orientation:
Plus strand
chr9:116,172,334-116,191,964
(GRCh37/hg19)
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

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

InterPro:
Blocks:
  • Subtilisin serine protease family (S8) signature
ProtoNet:
genes like me logo Genes that share domains with C9orf43: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C9orf43

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

PathCards logo

SuperPathways for C9orf43 Gene

No Data Available

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

mRNA/cDNA for C9orf43 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 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 C9orf43

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

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30
  • 98.75 (n)
C9orf43 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C8H9orf43 30
  • 76.03 (n)
C9orf43 31
  • 59 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C11H9orf43 30
  • 74.96 (n)
C9orf43 31
  • 54 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 4933430I17Rik 30 17 31
  • 64.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC500475 30
  • 63.97 (n)
Species where no ortholog for C9orf43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C9orf43 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs41313331 - p.Asp252Gly

Additional dbSNP identifiers (rs#s) for C9orf43 Gene

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
  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
  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
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for C9orf43 Gene

  • Biorbyt antibodies for C9orf43

Sources for C9orf43 Gene