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Aliases for C9orf69 Gene

Aliases for C9orf69 Gene

  • Chromosome 9 Open Reading Frame 69 2 3 5
  • Herpes Virus UL25-Binding Protein 4

External Ids for C9orf69 Gene

Previous GeneCards Identifiers for C9orf69 Gene

  • GC09U900585
  • GC09M138147
  • GC09M139006
  • GC09M108469

Summaries for C9orf69 Gene

GeneCards Summary for C9orf69 Gene

C9orf69 (Chromosome 9 Open Reading Frame 69) is a Protein Coding gene. GO annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot for C9orf69 Gene

  • Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1 (HHV-1) proliferation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf69 Gene

Genomics for C9orf69 Gene

Regulatory Elements for C9orf69 Gene

Enhancers for C9orf69 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
GH09F136116 1.1 ENCODE 8.2 +0.1 106 4.7 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NACC2 UBAC1 C9orf69 LOC105376323 GC09M136118 PIR51204
GH09F136105 1.1 ENCODE 7.8 +10.4 10385 5.9 HDGF PKNOX1 SIN3A FEZF1 ZNF416 ZNF207 ZNF143 ZNF263 SP3 JUNB SNAPC4 CCDC183-AS1 LOC105376323 C9orf69 SEC16A NACC2
GH09F136130 1.2 Ensembl ENCODE 5.6 -13.7 -13673 4.1 PKNOX1 ARID4B GLI4 ZNF2 GLIS2 KLF7 ZNF202 SP3 ZNF610 SMARCA4 SNHG7 SNAPC4 ENSG00000238058 LCNL1 C9orf69 LOC105376323 ENSG00000275329 LHX3
GH09F136143 0.7 ENCODE 5.1 -24.6 -24575 0.1 CTCF CREB3L1 CEBPG ZIC2 RAD21 GLIS2 ZBTB48 PATZ1 SMC3 ZNF654 C9orf69 ENSG00000275329 LHX3
GH09F136562 2.2 VISTA FANTOM5 Ensembl ENCODE 1.5 -449.3 -449264 11.5 HDGF MLX WRNIP1 ARID4B SIN3A YBX1 SLC30A9 ZNF143 FOS SP5 NOTCH1 SNAPC4 ANAPC2 CCDC183-AS1 SEC16A FUT7 C9orf69 NACC2 MIR4674 LINC01451
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf69 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf69 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001317461 85 2001 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for C9orf69 Gene

Chromosome:
9
Start:
136,110,220 bp from pter
End:
136,118,885 bp from pter
Size:
8,666 bases
Orientation:
Minus strand

Genomic View for C9orf69 Gene

Genes around C9orf69 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf69 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf69 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf69 Gene

Proteins for C9orf69 Gene

  • Protein details for C9orf69 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    H0YL14-CI069_HUMAN
    Recommended name:
    Protein C9orf69
    Protein Accession:
    H0YL14

    Protein attributes for C9orf69 Gene

    Size:
    139 amino acids
    Molecular mass:
    16083 Da
    Quaternary structure:
    • Interacts with HHV-1 protein UL25; this interaction occurs in the course of a HHV-1 infection.

neXtProt entry for C9orf69 Gene

Post-translational modifications for C9orf69 Gene

No Post-translational modifications

Other Protein References for C9orf69 Gene

No data available for DME Specific Peptides for C9orf69 Gene

Domains & Families for C9orf69 Gene

Protein Domains for C9orf69 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf69: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf69 Gene

Function for C9orf69 Gene

Molecular function for C9orf69 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1 (HHV-1) proliferation.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon HHV-1 infection.

Gene Ontology (GO) - Molecular Function for C9orf69 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21667337
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with C9orf69: view

Phenotypes for C9orf69 Gene

genes like me logo Genes that share phenotypes with C9orf69: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf69 Gene

Localization for C9orf69 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf69 Gene

Membrane; Multi-pass membrane protein. Nucleus. Cytoplasm. Note=Upon HHV-1 infection, accumulates arround the nuclear membrane and translocates into the nucleus.

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 C9orf69 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for C9orf69 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21667337
GO:0005737 cytoplasm IEA,IDA 21667337
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C9orf69: view

Pathways & Interactions for C9orf69 Gene

SuperPathways for C9orf69 Gene

No Data Available

Interacting Proteins for C9orf69 Gene

Gene Ontology (GO) - Biological Process for C9orf69 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0008284 positive regulation of cell proliferation IDA 21667337
GO:0016032 viral process IEA --
GO:0048524 positive regulation of viral process IDA 21667337
genes like me logo Genes that share ontologies with C9orf69: view

No data available for Pathways by source and SIGNOR curated interactions for C9orf69 Gene

Transcripts for C9orf69 Gene

mRNA/cDNA for C9orf69 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C9orf69 Gene

Chromosome 9 open reading frame 69:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf69 Gene

No ASD Table

Relevant External Links for C9orf69 Gene

GeneLoc Exon Structure for
C9orf69
ECgene alternative splicing isoforms for
C9orf69

Expression for C9orf69 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9orf69 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf69 Gene:

C9orf69

SOURCE GeneReport for Unigene cluster for C9orf69 Gene:

Hs.287411
genes like me logo Genes that share expression patterns with C9orf69: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C9orf69 Gene

Orthologs for C9orf69 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf69 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C9orf69 35
  • 94 (a)
OneToOne
C11H9orf69 34
  • 91.37 (n)
dog
(Canis familiaris)
Mammalia C9orf69 35
  • 91 (a)
OneToOne
C9H9orf69 34
  • 87.77 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564379 34
  • 89.93 (n)
mouse
(Mus musculus)
Mammalia C330006A16Rik 34 16
  • 89.45 (n)
chicken
(Gallus gallus)
Aves C17H9orf69 34
  • 76.02 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489629 34
  • 76.5 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332331 34
  • 75.06 (n)
Species where no ortholog for C9orf69 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C9orf69 Gene

ENSEMBL:
Gene Tree for C9orf69 (if available)
TreeFam:
Gene Tree for C9orf69 (if available)

Paralogs for C9orf69 Gene

Pseudogenes.org Pseudogenes for C9orf69 Gene

genes like me logo Genes that share paralogs with C9orf69: view

No data available for Paralogs for C9orf69 Gene

Variants for C9orf69 Gene

Sequence variations from dbSNP and Humsavar for C9orf69 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10121797 -- 136,114,155(+) gtggt(C/G)gtggg intron-variant, downstream-variant-500B
rs1044233 -- 136,114,675(-) GCCCT(C/T)TGAGC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10858224 -- 136,119,658(+) CAAGG(C/T)ACTGG upstream-variant-2KB, utr-variant-3-prime
rs11103338 -- 136,113,292(+) CTCCC(C/T)GCTGC intron-variant
rs11103339 -- 136,115,838(+) CCCCC(C/T)GCTAG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C9orf69 Gene

Variant ID Type Subtype PubMed ID
nsv951202 CNV deletion 24416366
nsv831757 CNV loss 17160897
nsv825173 CNV gain 20364138
nsv6762 CNV insertion 18451855
nsv615955 CNV loss 21841781
nsv615954 CNV gain 21841781
nsv615946 CNV loss 21841781
nsv509332 CNV insertion 20534489
nsv466670 CNV gain 19166990
esv24552 CNV loss 19812545
dgv13003n54 CNV gain 21841781
dgv13002n54 CNV loss 21841781
dgv13001n54 CNV gain 21841781
dgv13000n54 CNV loss 21841781

Variation tolerance for C9orf69 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf69 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf69

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf69 Gene

Disorders for C9orf69 Gene

Relevant External Links for C9orf69

Genetic Association Database (GAD)
C9orf69
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf69

No disorders were found for C9orf69 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf69 Gene

Publications for C9orf69 Gene

  1. Host cell protein C9orf9 promotes viral proliferation via interaction with HSV-1 UL25 protein. (PMID: 21667337) Zhang Y. … Li Q.H. (Zhongguo Bing Du Xue 2011) 2 3 4 64
  2. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PMID: 19875614) Paterson A.D. … Bull S.B. (Diabetes 2010) 46 64
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 64

Products for C9orf69 Gene

Sources for C9orf69 Gene

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