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Aliases for C9orf47 Gene

Aliases for C9orf47 Gene

  • Chromosome 9 Open Reading Frame 47 2 3 5
  • C9orf108 3 4
  • Chromosome 9 Open Reading Frame 108 2
  • Uncharacterized Protein C9orf47 3
  • BA791O21.3 3

External Ids for C9orf47 Gene

Previous HGNC Symbols for C9orf47 Gene

  • C9orf108

Previous GeneCards Identifiers for C9orf47 Gene

  • GC00U914331
  • GC09P088835
  • GC09P090795
  • GC09P091605
  • GC09P061438

Summaries for C9orf47 Gene

GeneCards Summary for C9orf47 Gene

C9orf47 (Chromosome 9 Open Reading Frame 47) is a Protein Coding gene.

Additional gene information for C9orf47 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 C9orf47 Gene

Genomics for C9orf47 Gene

GeneHancer (GH) Regulatory Elements for C9orf47 Gene

Promoters and enhancers for C9orf47 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
GH09I088988 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 -0.1 -149 3.8 CTCF SIN3A BATF RELA ZNF335 E2F1 CTBP1 POLR2A ZNF444 ZBTB20 S1PR3 C9orf47 ENSG00000228658
GH09I088948 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -40.4 -40414 3.1 FOXA2 NFIB BRCA1 RFX5 TCF12 FOS CEBPB REST SP1 MEF2D C9orf47 S1PR3 PCNPP2 PIR55815
GH09I089175 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 2.9 +187.8 187764 5.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 GLIS2 ATF7 FOS SHC3 SECISBP2 C9orf47 ENSG00000224945
GH09I088941 Enhancer 0.7 ENCODE 5.3 -48.6 -48565 2.2 GTF2F1 PKNOX1 ESRRA NFIB NEUROD1 ZNF507 CTBP1 GATA3 RCOR1 FOS S1PR3 C9orf47 PCNPP2 PIR55815
GH09I088923 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 2.3 -67.0 -67000 1.5 POLR2A MAX MYC S1PR3 C9orf47 SECISBP2 PIR55815 PCNPP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9orf47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf47 gene promoter:

Genomic Locations for C9orf47 Gene

Genomic Locations for C9orf47 Gene
chr9:88,990,863-88,996,142
(GRCh38/hg38)
Size:
5,280 bases
Orientation:
Plus strand
chr9:91,605,778-91,611,057
(GRCh37/hg19)

Genomic View for C9orf47 Gene

Genes around C9orf47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf47 Gene

Proteins for C9orf47 Gene

  • Protein details for C9orf47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRZ4-CI047_HUMAN
    Recommended name:
    Uncharacterized protein C9orf47
    Protein Accession:
    Q6ZRZ4
    Secondary Accessions:
    • B7ZMC7
    • Q5SQD7
    • Q7Z568
    • Q8N1V4

    Protein attributes for C9orf47 Gene

    Size:
    202 amino acids
    Molecular mass:
    22306 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C9orf47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf47 Gene

Post-translational modifications for C9orf47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf47 Gene

No data available for DME Specific Peptides for C9orf47 Gene

Domains & Families for C9orf47 Gene

Gene Families for C9orf47 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C9orf47 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf47: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf47 Gene

Function for C9orf47 Gene

Phenotypes From GWAS Catalog for C9orf47 Gene

genes like me logo Genes that share phenotypes with C9orf47: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf47 Gene

Localization for C9orf47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf47 Gene

Secreted.

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 C9orf47 gene
Compartment Confidence
extracellular 4
plasma membrane 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C9orf47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C9orf47: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C9orf47 Gene

Pathways & Interactions for C9orf47 Gene

SuperPathways for C9orf47 Gene

No Data Available

Interacting Proteins for C9orf47 Gene

Gene Ontology (GO) - Biological Process for C9orf47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf47 Gene

Drugs & Compounds for C9orf47 Gene

No Compound Related Data Available

Transcripts for C9orf47 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf47 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4
SP1: - -
SP2: -
SP3: -

Relevant External Links for C9orf47 Gene

GeneLoc Exon Structure for
C9orf47
ECgene alternative splicing isoforms for
C9orf47

Expression for C9orf47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf47 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf47 Gene

This gene is overexpressed in Esophagus - Muscularis (x7.0) and Esophagus - Gastroesophageal Junction (x5.3).

Protein differential expression in normal tissues from HIPED for C9orf47 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf47 Gene



Protein tissue co-expression partners for C9orf47 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf47 Gene:

C9orf47

Evidence on tissue expression from TISSUES for C9orf47 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with C9orf47: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf47 Gene

Orthologs for C9orf47 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C9orf47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9orf47 34
  • 72 (a)
OneToOne
Species where no ortholog for C9orf47 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 C9orf47 Gene

ENSEMBL:
Gene Tree for C9orf47 (if available)
TreeFam:
Gene Tree for C9orf47 (if available)

Paralogs for C9orf47 Gene

No data available for Paralogs for C9orf47 Gene

Variants for C9orf47 Gene

Sequence variations from dbSNP and Humsavar for C9orf47 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000206370 -- 88,990,360(+) A/G upstream_transcript_variant
rs1000229978 -- 88,993,651(+) T/A/G 3_prime_UTR_variant
rs1000530103 -- 88,994,659(+) G/A 3_prime_UTR_variant
rs1000541867 -- 88,988,911(+) A/G upstream_transcript_variant
rs1000600081 -- 88,993,319(+) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf47 Gene

Variant ID Type Subtype PubMed ID
esv29340 CNV gain+loss 19812545
esv3621014 CNV gain 21293372

Variation tolerance for C9orf47 Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf47 Gene

Disorders for C9orf47 Gene

Additional Disease Information for C9orf47

No disorders were found for C9orf47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf47 Gene

Publications for C9orf47 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  3. Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PMID: 22331829) Chasman DI … Ridker PM (Circulation. Cardiovascular genetics 2012) 3 58
  4. 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) 4 58
  5. 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) 3 58

Products for C9orf47 Gene

Sources for C9orf47 Gene

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