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Aliases for C9orf172 Gene

Aliases for C9orf172 Gene

  • Chromosome 9 Open Reading Frame 172 2 3 5

External Ids for C9orf172 Gene

Previous GeneCards Identifiers for C9orf172 Gene

  • GC09P138859
  • GC09P139738
  • GC09P109200

Summaries for C9orf172 Gene

GeneCards Summary for C9orf172 Gene

C9orf172 (Chromosome 9 Open Reading Frame 172) is a Protein Coding 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 C9orf172 Gene

Genomics for C9orf172 Gene

Regulatory Elements for C9orf172 Gene

Enhancers for C9orf172 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
GH09G136881 1.6 Ensembl ENCODE dbSUPER 12.4 +38.2 38248 2.7 HDGF PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 PHPT1 MAMDC4 C9orf172 TMEM141 LCN12 PRR31 FBXW5 C8G RABL6 C9orf139
GH09G136884 1.3 ENCODE dbSUPER 12.4 +41.9 41860 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 ZNF143 FOS PHPT1 SNHG7 MAMDC4 C9orf172 C8G FBXW5 LCN12 TMEM141 PRR31 CCDC183-AS1
GH09G136925 1.3 Ensembl ENCODE dbSUPER 11.8 +82.8 82837 3.5 HDGF CTCF PKNOX1 ESRRA RAD21 FOSL1 ZFHX2 ZNF316 GATA2 POLR2A LCN12 TRAF2 CCDC183 PRR31 MAMDC4 PHPT1 C9orf172 RABL6 CCDC183-AS1 LCNL1
GH09G137422 1.4 ENCODE dbSUPER 10.8 +579.3 579278 3.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 ZBTB7B ZNF766 CBX5 NOXA1 NPDC1 C9orf172 CACNA1B EXD3 ENTPD8
GH09G136684 1.3 ENCODE dbSUPER 10.9 -157.3 -157262 4.7 CREB3L1 AGO1 SIN3A YY1 ZNF143 ZNF207 KLF13 ZNF263 JUNB SMARCB1 NPDC1 C9orf172 DPH7 AGPAT2 MIR126
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf172 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf172 Gene

136,844,415 bp from pter
136,848,801 bp from pter
4,387 bases
Plus strand

Genomic View for C9orf172 Gene

Genes around C9orf172 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf172 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf172 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf172 Gene

Proteins for C9orf172 Gene

  • Protein details for C9orf172 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf172
    Protein Accession:

    Protein attributes for C9orf172 Gene

    976 amino acids
    Molecular mass:
    106650 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf172 Gene

Post-translational modifications for C9orf172 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf172 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf172 Gene

Domains & Families for C9orf172 Gene

Protein Domains for C9orf172 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf172: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf172 Gene

Function for C9orf172 Gene

Phenotypes for C9orf172 Gene

GenomeRNAi human phenotypes for C9orf172:
genes like me logo Genes that share phenotypes with C9orf172: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf172 Gene

Localization for C9orf172 Gene

Subcellular locations from

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 C9orf172 gene
Compartment Confidence
nucleus 3
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf172 Gene

Pathways & Interactions for C9orf172 Gene

SuperPathways for C9orf172 Gene

No Data Available

Interacting Proteins for C9orf172 Gene

Gene Ontology (GO) - Biological Process for C9orf172 Gene


No data available for Pathways by source and SIGNOR curated interactions for C9orf172 Gene

Drugs & Compounds for C9orf172 Gene

No Compound Related Data Available

Transcripts for C9orf172 Gene

mRNA/cDNA for C9orf172 Gene

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

Unigene Clusters for C9orf172 Gene

Chromosome 9 open reading frame 172:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf172 Gene

No ASD Table

Relevant External Links for C9orf172 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf172 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf172 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf172 Gene

This gene is overexpressed in Brain - Cerebellum (x5.6) and Brain - Cerebellar Hemisphere (x5.1).

Protein differential expression in normal tissues from HIPED for C9orf172 Gene

This gene is overexpressed in Liver, secretome (44.9), Frontal cortex (13.3), and Brain (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf172 Gene

Protein tissue co-expression partners for C9orf172 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf172 Gene:


SOURCE GeneReport for Unigene cluster for C9orf172 Gene:

genes like me logo Genes that share expression patterns with C9orf172: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf172 Gene

Orthologs for C9orf172 Gene

This gene was present in the common ancestor of animals.

Orthologs for C9orf172 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia C9orf172 35
  • 90 (a)
C9H9orf172 34
  • 87.66 (n)
(Bos Taurus)
Mammalia C9orf172 35
  • 89 (a)
C11H9orf172 34
  • 86.67 (n)
(Mus musculus)
Mammalia Gm996 34 16 35
  • 81.57 (n)
(Rattus norvegicus)
Mammalia RGD1560470 34
  • 81.5 (n)
(Monodelphis domestica)
Mammalia C9orf172 35
  • 71 (a)
(Gallus gallus)
Aves C17H9ORF172 34
  • 68.91 (n)
C9orf172 35
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495930 34
  • 61.09 (n)
(Danio rerio)
Actinopterygii C5H9orf172 (1 of 2) 35
  • 47 (a)
C5H9orf172 (2 of 2) 35
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012545 34
  • 55.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42748 35
  • 10 (a)
(Caenorhabditis elegans)
Secernentea ajm-1 35
  • 10 (a)
Species where no ortholog for C9orf172 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for C9orf172 Gene

Gene Tree for C9orf172 (if available)
Gene Tree for C9orf172 (if available)

Paralogs for C9orf172 Gene Pseudogenes for C9orf172 Gene

genes like me logo Genes that share paralogs with C9orf172: view

No data available for Paralogs for C9orf172 Gene

Variants for C9orf172 Gene

Sequence variations from dbSNP and Humsavar for C9orf172 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1001107357 -- 136,844,776(+) GGCCC(A/G)GCGTG reference, missense
rs1002316479 -- 136,844,219(+) TGGAG(A/G)AAGCG upstream-variant-2KB
rs1002612359 -- 136,843,281(+) CCCCC(C/T)AGCTG upstream-variant-2KB
rs1002673010 -- 136,842,884(+) TGTCA(C/G)CTCCC upstream-variant-2KB
rs1002755557 -- 136,843,970(+) CGCAG(C/T)CCCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf172 Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
esv2759720 CNV loss 17122850
esv29973 CNV loss 17803354
esv3622017 CNV gain 21293372
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615985 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv8582 CNV gain 18304495
nsv951205 CNV deletion 24416366

Variation tolerance for C9orf172 Gene

Gene Damage Index Score: 1.69; 32.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf172 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf172 Gene

Disorders for C9orf172 Gene

Relevant External Links for C9orf172

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C9orf172 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf172 Gene

Publications for C9orf172 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 64

Products for C9orf172 Gene

Sources for C9orf172 Gene

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