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Aliases for C9orf171 Gene

Aliases for C9orf171 Gene

  • Chromosome 9 Open Reading Frame 171 2 3

External Ids for C9orf171 Gene

Previous GeneCards Identifiers for C9orf171 Gene

  • GC09P134277
  • GC09P135285
  • GC09P104778

Summaries for C9orf171 Gene

GeneCards Summary for C9orf171 Gene

C9orf171 (Chromosome 9 Open Reading Frame 171) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf171 Gene

Genomics for C9orf171 Gene

Regulatory Elements for C9orf171 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C9orf171 Gene

Start:
132,410,043 bp from pter
End:
132,573,319 bp from pter
Size:
163,277 bases
Orientation:
Plus strand

Genomic View for C9orf171 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9orf171 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf171 Gene

Proteins for C9orf171 Gene

  • Protein details for C9orf171 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZQR2-CI171_HUMAN
    Recommended name:
    Uncharacterized protein C9orf171
    Protein Accession:
    Q6ZQR2
    Secondary Accessions:
    • Q147X1

    Protein attributes for C9orf171 Gene

    Size:
    320 amino acids
    Molecular mass:
    36499 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C9orf171 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf171 Gene

Proteomics data for C9orf171 Gene at MOPED

Post-translational modifications for C9orf171 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf171 Gene

No data available for DME Specific Peptides for C9orf171 Gene

Domains for C9orf171 Gene

Protein Domains for C9orf171 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf171: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf171 Gene

Function for C9orf171 Gene

Gene Ontology (GO) - Molecular Function for C9orf171 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C9orf171: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C9orf171

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C9orf171 Gene

Localization for C9orf171 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C9orf171 Gene COMPARTMENTS Subcellular localization image for C9orf171 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf171 Gene

Pathways for C9orf171 Gene

SuperPathways for C9orf171 Gene

No Data Available

Interacting Proteins for C9orf171 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000343290%0d%0a9606.ENSP00000346440%0d%0a
Selected Interacting proteins: ENSP00000343290 Q6ZQR2-CI171_HUMAN for C9orf171 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C9orf171 Gene

None

No data available for Pathways by source for C9orf171 Gene

Transcripts for C9orf171 Gene

mRNA/cDNA for C9orf171 Gene

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

Unigene Clusters for C9orf171 Gene

Chromosome 9 open reading frame 171:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C9orf171

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for C9orf171

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf171 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2: -

Relevant External Links for C9orf171 Gene

GeneLoc Exon Structure for
C9orf171
ECgene alternative splicing isoforms for
C9orf171

Expression for C9orf171 Gene

mRNA expression in normal human tissues for C9orf171 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf171 Gene

This gene is overexpressed in Testis (22.9) and Fallopian Tube (5.1).

SOURCE GeneReport for Unigene cluster for C9orf171 Gene Hs.201709

genes like me logo Genes that share expressions with C9orf171: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt for C9orf171 Gene

Orthologs for C9orf171 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf171 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf171 35
  • 99.48 (n)
  • 100 (a)
C9orf171 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H9orf171 35
  • 89.91 (n)
  • 91.9 (a)
C9orf171 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9H9orf171 35
  • 89.24 (n)
  • 90.07 (a)
C9orf171 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700101E01Rik 35
  • 84.97 (n)
  • 88.11 (a)
1700101E01Rik 16
1700101E01Rik 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9orf171 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf171 36
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564114 35
  • 83.86 (n)
  • 85.16 (a)
chicken
(Gallus gallus)
Aves C17H9ORF171 35
  • 61.95 (n)
  • 52.79 (a)
C9orf171 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491608 35
  • 59.04 (n)
  • 49.25 (a)
zebrafish
(Danio rerio)
Actinopterygii C5H9orf171 36
  • 39 (a)
OneToOne
si:ch211-215c18.4 35
  • 50.21 (n)
  • 41.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4401 36
  • 42 (a)
OneToOne
Species with no ortholog for C9orf171:
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 C9orf171 Gene

ENSEMBL:
Gene Tree for C9orf171 (if available)
TreeFam:
Gene Tree for C9orf171 (if available)

Paralogs for C9orf171 Gene

No data available for Paralogs for C9orf171 Gene

Variants for C9orf171 Gene

Sequence variations from dbSNP and Humsavar for C9orf171 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs433311 -- 132,572,933(-) TGAGG(G/T)CTTTC utr-variant-3-prime
rs471186 -- 132,487,573(+) AGTAT(C/T)TTTTT intron-variant
rs472077 -- 132,451,887(-) GCGGA(A/G)GTTGC intron-variant
rs472207 -- 132,475,479(-) AGTGG(G/T)CTCTG intron-variant
rs472211 -- 132,466,104(-) GTCTT(A/T)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf171 Gene

Variant ID Type Subtype PubMed ID
nsv6741 CNV Loss 18451855
nsv520491 CNV Gain 19592680
esv2739131 CNV Deletion 23290073
esv2070104 CNV Deletion 18987734
esv5190 CNV Deletion 18987735
esv1000676 CNV Deletion 20482838
esv1509495 CNV Deletion 17803354
nsv416344 CNV Loss 16902084
nsv894022 CNV Loss 21882294
nsv6744 CNV Insertion 18451855
esv1002280 CNV Deletion 20482838
nsv516741 CNV Loss 19592680
nsv894023 CNV Gain 21882294
esv2739132 CNV Deletion 23290073
esv2739133 CNV Deletion 23290073
esv3371 CNV Deletion 18987735
dgv1383e199 CNV Deletion 23128226
nsv415812 CNV Loss 16902084
esv5887 CNV Loss 19470904
esv2739134 CNV Deletion 23290073
esv1524647 CNV Insertion 17803354
nsv415449 CNV Loss 16902084
esv2739135 CNV Deletion 23290073
esv2667814 CNV Deletion 23128226
esv2664760 CNV Deletion 23128226
esv2739136 CNV Deletion 23290073

Relevant External Links for C9orf171 Gene

HapMap Linkage Disequilibrium report
C9orf171

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf171 Gene

Disorders for C9orf171 Gene

Relevant External Links for C9orf171

Genetic Association Database (GAD)
C9orf171
Human Genome Epidemiology (HuGE) Navigator
C9orf171
genes like me logo Genes that share disorders with C9orf171: view

No data available for UniProtKB/Swiss-Prot for C9orf171 Gene

Publications for C9orf171 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4

Products for C9orf171 Gene

Sources for C9orf171 Gene

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