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Aliases for C9orf62 Gene

Aliases for C9orf62 Gene

  • Chromosome 9 Open Reading Frame 62 2 3 5

External Ids for C9orf62 Gene

Previous GeneCards Identifiers for C9orf62 Gene

  • GC09P133674
  • GC09P135461
  • GC09U900682
  • GC09P137374
  • GC09P138235
  • GC09P107692

Summaries for C9orf62 Gene

GeneCards Summary for C9orf62 Gene

C9orf62 (Chromosome 9 Open Reading Frame 62) 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 C9orf62 Gene

Genomics for C9orf62 Gene

Regulatory Elements for C9orf62 Gene

Enhancers for C9orf62 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
GH09G135362 0.6 dbSUPER 12.5 +21.2 21186 4.4 RBBP5 ZIC2 ZFHX2 ZNF366 SMARCA4 ZNF544 POLR2A ZNF512 CTBP2 EGR2 C9orf62 PPP1R26-AS1 PAEP ENSG00000235572 GC09P135402
GH09G135338 1.2 FANTOM5 ENCODE dbSUPER 0.7 -2.9 -2918 3.1 BCOR SMARCA4 POLR2A TEAD4 ZMYM3 FOXP2 CHD7 C9orf62 GC09M135273
GH09G135344 1.1 ENCODE dbSUPER 0.7 +0.9 881 0.2 NFIB ZSCAN4 ZNF76 KLF17 ZNF2 RAD21 ZEB1 ZNF143 CREM ZNF654 C9orf62 ENSG00000235572
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf62 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9orf62 Gene

Chromosome:
9
Start:
135,343,249 bp from pter
End:
135,346,562 bp from pter
Size:
3,314 bases
Orientation:
Plus strand

Genomic View for C9orf62 Gene

Genes around C9orf62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf62 Gene

Proteins for C9orf62 Gene

  • Protein details for C9orf62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4C0-CI062_HUMAN
    Recommended name:
    Putative uncharacterized protein C9orf62
    Protein Accession:
    Q8N4C0
    Secondary Accessions:
    • Q5T7E2

    Protein attributes for C9orf62 Gene

    Size:
    152 amino acids
    Molecular mass:
    16682 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C9orf62 Gene

Post-translational modifications for C9orf62 Gene

No Post-translational modifications

Other Protein References for C9orf62 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C9orf62 Gene

Domains & Families for C9orf62 Gene

Protein Domains for C9orf62 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf62: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf62 Gene

Function for C9orf62 Gene

Phenotypes for C9orf62 Gene

GenomeRNAi human phenotypes for C9orf62:
genes like me logo Genes that share phenotypes with C9orf62: view

Animal Model Products

CRISPR 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 C9orf62 Gene

Localization for C9orf62 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 C9orf62 gene
Compartment Confidence
extracellular 2
mitochondrion 1
nucleus 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf62 Gene

Pathways & Interactions for C9orf62 Gene

SuperPathways for C9orf62 Gene

No Data Available

Interacting Proteins for C9orf62 Gene

Gene Ontology (GO) - Biological Process for C9orf62 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf62 Gene

Transcripts for C9orf62 Gene

mRNA/cDNA for C9orf62 Gene

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

Unigene Clusters for C9orf62 Gene

Chromosome 9 open reading frame 62:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf62 Gene

No ASD Table

Relevant External Links for C9orf62 Gene

GeneLoc Exon Structure for
C9orf62
ECgene alternative splicing isoforms for
C9orf62

Expression for C9orf62 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf62 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf62 Gene

This gene is overexpressed in Brain - Cortex (x12.8), Brain - Frontal Cortex (BA9) (x10.5), Brain - Hippocampus (x6.5), and Brain - Anterior cingulate cortex (BA24) (x5.4).

Protein differential expression in normal tissues from HIPED for C9orf62 Gene

This gene is overexpressed in Esophagus (40.1) and Heart (28.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf62 Gene



Protein tissue co-expression partners for C9orf62 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf62 Gene:

C9orf62

SOURCE GeneReport for Unigene cluster for C9orf62 Gene:

Hs.559511
genes like me logo Genes that share expression patterns with C9orf62: 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 C9orf62 Gene

Orthologs for C9orf62 Gene

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

Orthologs for C9orf62 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf62 34
  • 98.23 (n)
C9orf62 35
  • 96 (a)
OneToOne
Species where no ortholog for C9orf62 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 C9orf62 Gene

ENSEMBL:
Gene Tree for C9orf62 (if available)
TreeFam:
Gene Tree for C9orf62 (if available)

Paralogs for C9orf62 Gene

No data available for Paralogs for C9orf62 Gene

Variants for C9orf62 Gene

Sequence variations from dbSNP and Humsavar for C9orf62 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000739506 -- 135,346,314(+) GCAGT(C/G)CCGAC utr-variant-3-prime
rs1000945926 -- 135,345,142(+) CACCA(C/T)CACAT intron-variant
rs1001457039 -- 135,345,410(+) GCCTG(A/G)AAGAC utr-variant-3-prime
rs1001988305 -- 135,346,252(+) ATCCG(A/T)GGGCT utr-variant-3-prime
rs1002918222 -- 135,343,103(+) GCCCC(A/C)CAGCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf62 Gene

Variant ID Type Subtype PubMed ID
dgv12979n54 CNV gain 21841781
dgv2187e212 CNV gain 25503493
dgv263e55 CNV gain 17911159
dgv7726n100 CNV gain 25217958
dgv952n27 CNV gain 19166990
esv2422430 CNV duplication 17116639
esv26412 CNV gain+loss 19812545
esv2739138 CNV deletion 23290073
esv2752285 CNV gain 17911159
esv2764139 CNV gain+loss 21179565
esv3576718 CNV gain 25503493
esv3621979 CNV gain 21293372
esv3621985 CNV gain 21293372
nsv1043719 CNV gain 25217958
nsv1043726 CNV gain 25217958
nsv1125319 OTHER inversion 24896259
nsv466646 CNV gain 19166990
nsv469912 CNV loss 18288195
nsv517428 CNV gain+loss 19592680
nsv615842 CNV gain 21841781
nsv615849 CNV gain 21841781
nsv6758 CNV insertion 18451855
nsv831755 CNV gain+loss 17160897
nsv951819 CNV deletion 24416366

Variation tolerance for C9orf62 Gene

Gene Damage Index Score: 0.34; 7.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf62 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf62

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf62 Gene

Disorders for C9orf62 Gene

Relevant External Links for C9orf62

Genetic Association Database (GAD)
C9orf62
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf62

No disorders were found for C9orf62 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf62 Gene

Publications for C9orf62 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. Genome-wide association study of the child behavior checklist dysregulation profile. (PMID: 21784300) Mick E. … Faraone S.V. (J Am Acad Child Adolesc Psychiatry 2011) 46 64
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for C9orf62 Gene

Sources for C9orf62 Gene

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