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Aliases for C9orf92 Gene

Aliases for C9orf92 Gene

  • Chromosome 9 Open Reading Frame 92 2 3 5
  • Putative Uncharacterized Protein C9orf92 3
  • Em:AL513424.1 3

External Ids for C9orf92 Gene

Previous GeneCards Identifiers for C9orf92 Gene

  • GC09U900592

Summaries for C9orf92 Gene

GeneCards Summary for C9orf92 Gene

C9orf92 (Chromosome 9 Open Reading Frame 92) is a Protein Coding gene.

Additional gene information for C9orf92 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 C9orf92 Gene

Genomics for C9orf92 Gene

Regulatory Elements for C9orf92 Gene

Enhancers for C9orf92 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
GH09H016342 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -68.0 -67965 2 JUND POLR2A BCL6B STAT3 FOS NR3C1 EP300 RAD21 NR2F2 C9orf92 GC09P016344 GC09P016278
GH09H016509 1.1 FANTOM5 Ensembl ENCODE 10.3 -233.9 -233931 1 JUN BATF JUND POLR2A IKZF1 FOS MAFK IKZF2 ENSG00000231756 C9orf92 GC09P016484 ENSG00000230694
GH09H016504 0.9 Ensembl ENCODE 10.8 -229.6 -229566 2 STAT1 GATA3 PRDM6 JUND CEBPB RCOR1 TCF7L2 RFX5 ENSG00000231756 C9orf92 GC09P016484 ENSG00000230694
GH09H016314 0.8 ENCODE dbSUPER 11.7 -39.8 -39784 3 JUND ATF3 HNF4A YY1 C9orf92 SNAPC3 GC09P016344 GC09P016278
GH09H016308 0.7 ENCODE dbSUPER 11.9 -33.6 -33629 2 ATF2 EZH2 C9orf92 CNTLN GC09P016344 GC09P016278
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf92 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf92 Gene

Chromosome:
9
Start:
16,203,935 bp from pter
End:
16,276,313 bp from pter
Size:
72,379 bases
Orientation:
Minus strand

Genomic View for C9orf92 Gene

Genes around C9orf92 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf92 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf92 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf92 Gene

Proteins for C9orf92 Gene

  • Protein details for C9orf92 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NGG3-CI092_HUMAN
    Recommended name:
    Putative uncharacterized protein C9orf92
    Protein Accession:
    A6NGG3
    Secondary Accessions:
    • A6NMF8

    Protein attributes for C9orf92 Gene

    Size:
    77 amino acids
    Molecular mass:
    8520 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C9orf92 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf92 Gene

Post-translational modifications for C9orf92 Gene

No Post-translational modifications

Other Protein References for C9orf92 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf92 Gene

Domains & Families for C9orf92 Gene

Gene Families for C9orf92 Gene

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

Protein Domains for C9orf92 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf92: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf92 Gene

Function for C9orf92 Gene

Phenotypes From GWAS Catalog for C9orf92 Gene

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for C9orf92
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf92 Gene

Localization for C9orf92 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 C9orf92 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C9orf92 Gene

Pathways & Interactions for C9orf92 Gene

SuperPathways for C9orf92 Gene

No Data Available

Interacting Proteins for C9orf92 Gene

Gene Ontology (GO) - Biological Process for C9orf92 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf92 Gene

Drugs & Compounds for C9orf92 Gene

No Compound Related Data Available

Transcripts for C9orf92 Gene

mRNA/cDNA for C9orf92 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C9orf92 Gene

Chromosome 9 open reading frame 92:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for C9orf92
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf92 Gene

No ASD Table

Relevant External Links for C9orf92 Gene

GeneLoc Exon Structure for
C9orf92
ECgene alternative splicing isoforms for
C9orf92

Expression for C9orf92 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf92 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf92 Gene

This gene is overexpressed in Prostate (x7.8).

NURSA nuclear receptor signaling pathways regulating expression of C9orf92 Gene:

C9orf92

SOURCE GeneReport for Unigene cluster for C9orf92 Gene:

Hs.586441
genes like me logo Genes that share expression patterns with C9orf92: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , 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 C9orf92 Gene

Orthologs for C9orf92 Gene

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

Orthologs for C9orf92 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC465004 33
  • 98.15 (n)
C9orf92 34
  • 97 (a)
OneToOne
Species where no ortholog for C9orf92 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 C9orf92 Gene

ENSEMBL:
Gene Tree for C9orf92 (if available)
TreeFam:
Gene Tree for C9orf92 (if available)

Paralogs for C9orf92 Gene

No data available for Paralogs for C9orf92 Gene

Variants for C9orf92 Gene

Sequence variations from dbSNP and Humsavar for C9orf92 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000006283 -- 16,273,556(+) AAATG(A/C)AACGT intron-variant
rs1000044956 -- 16,270,102(+) ACAAA(A/C)CAGAC intron-variant
rs1000090210 -- 16,207,992(+) TGTAA(C/T)AGTAA intron-variant
rs1000105624 -- 16,212,779(+) AACAA(C/G)ATGGG intron-variant
rs1000127666 -- 16,259,909(+) TGTCA(C/T)TGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf92 Gene

Variant ID Type Subtype PubMed ID
esv3619808 CNV loss 21293372
nsv520183 CNV loss 19592680
nsv523890 CNV loss 19592680
nsv6490 CNV insertion 18451855

Variation tolerance for C9orf92 Gene

Gene Damage Index Score: 2.82; 47.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf92 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf92

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf92 Gene

Disorders for C9orf92 Gene

Relevant External Links for C9orf92

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf92

No disorders were found for C9orf92 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf92 Gene

Publications for C9orf92 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  2. Creation of genome-wide protein expression libraries using random activation of gene expression. (PMID: 11329013) Harrington JJ … Ducar M (Nature biotechnology 2001) 3 4 60
  3. Fusion of the HMGA2 and C9orf92 genes in myolipoma with t(9;12)(p22;q14). (PMID: 26857357) Panagopoulos I … Heim S (Diagnostic pathology 2016) 3 60

Products for C9orf92 Gene

Sources for C9orf92 Gene

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