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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

Regulatory Elements for C9orf152 Gene

Enhancers for C9orf152 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
GH09H110187 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.1 +18.9 18894 2.6 ELF3 SOX13 TFAP4 FOXA2 SAP130 ARID4B MAX ZNF644 RAD21 RARA C9orf152 GC09M110189 LOC105376217
GH09H110174 0.8 dbSUPER 18.2 +32.6 32590 1.9 SOX13 ZNF146 FOXA2 ATF1 SAP130 CEBPG DMAP1 ZNF644 DNMT3B TEAD3 C9orf152 TXN LOC105376217 GC09M110097
GH09H110179 1.4 Ensembl ENCODE dbSUPER 8.6 +27.8 27845 2.4 ELF3 FOXA2 ATF1 NFIB ZFP64 ARID4B DMAP1 THRB ZSCAN9 RARA TXN C9orf152 LOC105376217 GC09M110189
GH09H110191 1.5 Ensembl ENCODE dbSUPER 7.9 +14.2 14174 4.5 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 YY1 TCF12 GATA2 FOS C9orf152 GC09P110199 GC09M110189
GH09H110212 1.3 Ensembl ENCODE dbSUPER 8.9 -5.7 -5664 2.3 FOXA2 MLX ARID4B RARA YY1 FOS CREM CEBPB PPARG KAT8 TXN C9orf152
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf152 on UCSC Golden Path with GeneCards custom track

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)

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

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

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 33 34
  • 79.74 (n)
rat
(Rattus norvegicus)
Mammalia LOC685849 33
  • 75.51 (n)
mouse
(Mus musculus)
Mammalia D630039A03Rik 33 16 34
  • 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 Sequence Context AA Info Type
rs1000711500 -- 110,206,341(+) CAGGT(G/T)TATTA intron-variant
rs1000715514 -- 110,199,943(+) TTGAT(C/T)CCAGG utr-variant-3-prime
rs1000848744 -- 110,205,141(+) ACCAT(A/C)TATAG intron-variant
rs1000975402 -- 110,199,542(+) TTAAA(A/C)ACAAA downstream-variant-500B
rs1001005171 -- 110,199,786(+) TGAAA(C/T)TTTAC utr-variant-3-prime

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

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

Relevant External Links 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

Relevant External Links for C9orf152

Genetic Association Database (GAD)
C9orf152
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  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 60

Products for C9orf152 Gene

Sources for C9orf152 Gene

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