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Aliases for C9orf152 Gene

Aliases for C9orf152 Gene

  • Chromosome 9 Open Reading Frame 152 2 3 5
  • Uncharacterized Protein C9orf152 3
  • BA470J20.2 3

External Ids for C9orf152 Gene

Previous GeneCards Identifiers for C9orf152 Gene

  • GC09M108315
  • GC09M110041
  • GC09M112001
  • GC09M112952
  • GC09M082563

Summaries for C9orf152 Gene

GeneCards Summary for C9orf152 Gene

C9orf152 (Chromosome 9 Open Reading Frame 152) is a Protein Coding gene.

Additional gene information for C9orf152 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 C9orf152 Gene

Genomics for C9orf152 Gene

GeneHancer (GH) Regulatory Elements for C9orf152 Gene

Promoters and enhancers for C9orf152 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J110202 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 659.7 +2.5 2533 6.8 NFIB RARA EGR2 RXRA SP5 GATAD2B ELF1 KAT8 PCBP2 ZNF217 C9orf152 TRR-TCG6-1
GH09J110209 Enhancer 0.2 dbSUPER 650.7 -1.4 -1414 0.6 C9orf152 TXN RNU6-1039P
GH09J110174 Enhancer 0.8 dbSUPER 18.2 +32.6 32590 1.9 FOXA2 DMAP1 DNMT3B ZNF48 ETS1 CREM HMG20B MXD4 MIER2 TGIF2 C9orf152 TXN LOC105376217 GC09M110097
GH09J110187 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +18.9 18893 2.6 ELF3 SOX13 TFAP4 FOXA2 SAP130 ARID4B MAX ERF ZNF644 ZNF48 GC09M110189 C9orf152 LOC105376217
GH09J110179 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.6 +27.8 27844 2.4 ELF3 FOXA2 NFIB ZFP64 ARID4B DMAP1 THRB ZNF48 ZSCAN9 RARA LOC105376217 TXN C9orf152 GC09M110189
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf152 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9orf152 gene promoter:
  • AP-4
  • LUN-1
  • HNF-3beta
  • STAT1
  • FOXD1
  • AREB6
  • C/EBPalpha
  • POU2F1a
  • POU2F1
  • IRF-7A

Genomic Locations for C9orf152 Gene

Genomic Locations for C9orf152 Gene
chr9:110,190,048-110,208,189
(GRCh38/hg38)
Size:
18,142 bases
Orientation:
Minus strand
chr9:112,952,328-112,970,469
(GRCh37/hg19)
Size:
18,142 bases
Orientation:
Minus strand

Genomic View for C9orf152 Gene

Genes around C9orf152 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf152 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf152 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf152 Gene

Proteins for C9orf152 Gene

  • Protein details for C9orf152 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTZ5-CI152_HUMAN
    Recommended name:
    Uncharacterized protein C9orf152
    Protein Accession:
    Q5JTZ5
    Secondary Accessions:
    • A8MWT6

    Protein attributes for C9orf152 Gene

    Size:
    239 amino acids
    Molecular mass:
    26314 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI10808.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C9orf152 Gene

Post-translational modifications for C9orf152 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf152 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf152 Gene

Domains & Families for C9orf152 Gene

Gene Families for C9orf152 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf152 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C9orf152 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf152: view

No data available for UniProtKB/Swiss-Prot for C9orf152 Gene

Function for C9orf152 Gene

Phenotypes From GWAS Catalog for C9orf152 Gene

Phenotypes for C9orf152 Gene

genes like me logo Genes that share phenotypes with C9orf152: view

Animal Model 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 C9orf152 Gene

Localization for C9orf152 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 C9orf152 gene
Compartment Confidence
extracellular 2
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C9orf152 Gene

Pathways & Interactions for C9orf152 Gene

SuperPathways for C9orf152 Gene

No Data Available

Interacting Proteins for C9orf152 Gene

Selected Interacting proteins: Q5JTZ5-CI152_HUMAN for C9orf152 Gene via IID

Symbol External ID(s) Details
FOXA1

Gene Ontology (GO) - Biological Process for C9orf152 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf152 Gene

Drugs & Compounds for C9orf152 Gene

No Compound Related Data Available

Transcripts for C9orf152 Gene

mRNA/cDNA for C9orf152 Gene

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

Unigene Clusters for C9orf152 Gene

Chromosome 9 open reading frame 152:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf152 Gene

No ASD Table

Relevant External Links for C9orf152 Gene

GeneLoc Exon Structure for
C9orf152
ECgene alternative splicing isoforms for
C9orf152

Expression for C9orf152 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf152 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf152 Gene

This gene is overexpressed in Stomach (x12.3), Colon - Transverse (x11.1), Minor Salivary Gland (x5.8), and Prostate (x4.9).

Protein differential expression in normal tissues from HIPED for C9orf152 Gene

This gene is overexpressed in Fetal Liver (41.2) and Salivary gland (27.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf152 Gene



Protein tissue co-expression partners for C9orf152 Gene

NURSA nuclear receptor signaling pathways regulating expression of C9orf152 Gene:

C9orf152

SOURCE GeneReport for Unigene cluster for C9orf152 Gene:

Hs.125608
genes like me logo Genes that share expression patterns with C9orf152: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf152 Gene

Orthologs for C9orf152 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf152 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf152 33
  • 99.3 (n)
C9orf152 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf152 34 33
  • 79.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685849 33
  • 75.51 (n)
mouse
(Mus musculus)
Mammalia D630039A03Rik 16 34 33
  • 74.86 (n)
dog
(Canis familiaris)
Mammalia C9orf152 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9orf152 34
  • 26 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf152 34
  • 29 (a)
OneToOne
Species where no ortholog for C9orf152 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C9orf152 Gene

ENSEMBL:
Gene Tree for C9orf152 (if available)
TreeFam:
Gene Tree for C9orf152 (if available)

Paralogs for C9orf152 Gene

No data available for Paralogs for C9orf152 Gene

Variants for C9orf152 Gene

Sequence variations from dbSNP and Humsavar for C9orf152 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000711500 -- 110,206,341(-) G/A/T intron_variant
rs1000715514 -- 110,199,943(-) C/T 3_prime_UTR_variant
rs1000848744 -- 110,205,141(-) C/A intron_variant
rs1000975402 -- 110,199,542(-) A/C downstream_transcript_variant
rs1001005171 -- 110,199,786(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for C9orf152 Gene

Variant ID Type Subtype PubMed ID
dgv494n21 CNV gain 19592680
esv2752274 CNV gain 17911159
esv3621449 CNV gain 21293372
esv3621453 CNV gain 21293372
nsv1040651 CNV gain 25217958
nsv1043494 CNV gain 25217958
nsv524745 CNV gain 19592680

Variation tolerance for C9orf152 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf152 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf152

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf152 Gene

Disorders for C9orf152 Gene

Additional Disease Information for C9orf152

No disorders were found for C9orf152 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf152 Gene

Publications for C9orf152 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. (PMID: 15851553) Ozyildirim AM … Laurie GW (Investigative ophthalmology & visual science 2005) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for C9orf152 Gene

Sources for C9orf152 Gene

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