Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C5orf46 Gene

Aliases for C5orf46 Gene

  • Chromosome 5 Open Reading Frame 46 2 3 5
  • Skin And Saliva Secreted Protein 1 2 3
  • Uncharacterized Protein C5orf46 3
  • CTC-327F10.5 3
  • SSSP1 3

External Ids for C5orf46 Gene

Previous GeneCards Identifiers for C5orf46 Gene

  • GC05M147253
  • GC05M142419

Summaries for C5orf46 Gene

GeneCards Summary for C5orf46 Gene

C5orf46 (Chromosome 5 Open Reading Frame 46) is a Protein Coding gene.

Additional gene information for C5orf46 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 C5orf46 Gene

Genomics for C5orf46 Gene

GeneHancer (GH) Regulatory Elements for C5orf46 Gene

Promoters and enhancers for C5orf46 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
GH05J147905 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 650.7 +0.2 227 1.7 SMARCC1 JUN HLF CEBPB EP300 ATF2 ZNF335 GATA3 JUND CEBPA C5orf46 ENSG00000251320 SCGB3A2
GH05J147882 Enhancer 0.3 ENCODE 11.9 +23.5 23541 0.7 CREB1 C5orf46 ENSG00000251320 ENSG00000248362 SCGB3A2
GH05J147892 Enhancer 0.7 Ensembl ENCODE 0.4 +13.2 13240 2.6 SMARCE1 ZNF217 CTBP1 DPF2 KLF4 ENSG00000251320 C5orf46
GH05J147898 Enhancer 0.5 ENCODE 0.4 +7.4 7362 1.5 JUND POLR2A FOSL2 EP300 SCGB3A2 SPINK1 C5orf46 ENSG00000251320
GH05J147900 Enhancer 0.2 ENCODE 0.4 +5.0 5048 2 SCGB3A2 SPINK1 C5orf46 ENSG00000251320
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C5orf46 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf46 gene promoter:

Genomic Locations for C5orf46 Gene

Genomic Locations for C5orf46 Gene
chr5:147,880,726-147,906,589
(GRCh38/hg38)
Size:
25,864 bases
Orientation:
Minus strand
chr5:147,260,289-147,286,101
(GRCh37/hg19)

Genomic View for C5orf46 Gene

Genes around C5orf46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf46 Gene

Proteins for C5orf46 Gene

  • Protein details for C5orf46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWT4-CE046_HUMAN
    Recommended name:
    Uncharacterized protein C5orf46
    Protein Accession:
    Q6UWT4
    Secondary Accessions:
    • A8K038
    • Q8WU04

    Protein attributes for C5orf46 Gene

    Size:
    87 amino acids
    Molecular mass:
    9693 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C5orf46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C5orf46 Gene

Post-translational modifications for C5orf46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf46 Gene

No data available for DME Specific Peptides for C5orf46 Gene

Domains & Families for C5orf46 Gene

Gene Families for C5orf46 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C5orf46 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C5orf46: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C5orf46 Gene

Function for C5orf46 Gene

Phenotypes From GWAS Catalog for C5orf46 Gene

Gene Ontology (GO) - Molecular Function for C5orf46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C5orf46: view
genes like me logo Genes that share phenotypes with C5orf46: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C5orf46 Gene

Localization for C5orf46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C5orf46 Gene

Secreted.

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 C5orf46 gene
Compartment Confidence
extracellular 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C5orf46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with C5orf46: view

Pathways & Interactions for C5orf46 Gene

SuperPathways for C5orf46 Gene

No Data Available

Interacting Proteins for C5orf46 Gene

Gene Ontology (GO) - Biological Process for C5orf46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C5orf46: view

No data available for Pathways by source and SIGNOR curated interactions for C5orf46 Gene

Drugs & Compounds for C5orf46 Gene

No Compound Related Data Available

Transcripts for C5orf46 Gene

mRNA/cDNA for C5orf46 Gene

Unigene Clusters for C5orf46 Gene

Chromosome 5 open reading frame 46:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf46 Gene

No ASD Table

Relevant External Links for C5orf46 Gene

GeneLoc Exon Structure for
C5orf46
ECgene alternative splicing isoforms for
C5orf46

Expression for C5orf46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C5orf46 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x14.3), Artery - Aorta (x11.8), and Skin - Not Sun Exposed (Suprapubic) (x11.5).

Protein differential expression in normal tissues from HIPED for C5orf46 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C5orf46 Gene



Protein tissue co-expression partners for C5orf46 Gene

NURSA nuclear receptor signaling pathways regulating expression of C5orf46 Gene:

C5orf46

SOURCE GeneReport for Unigene cluster for C5orf46 Gene:

Hs.660038
genes like me logo Genes that share expression patterns with C5orf46: 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 C5orf46 Gene

Orthologs for C5orf46 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C5orf46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5orf46 34
  • 99 (a)
OneToOne
C5H5orf46 33
  • 97.7 (n)
cow
(Bos Taurus)
Mammalia C7H5orf46 34 33
  • 83.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C2H5orf46 33
  • 83.14 (n)
C5orf46 34
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563060 33
  • 78.23 (n)
mouse
(Mus musculus)
Mammalia Gm94 16 34 33
  • 76.47 (n)
Species where no ortholog for C5orf46 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C5orf46 Gene

ENSEMBL:
Gene Tree for C5orf46 (if available)
TreeFam:
Gene Tree for C5orf46 (if available)

Paralogs for C5orf46 Gene

No data available for Paralogs for C5orf46 Gene

Variants for C5orf46 Gene

Sequence variations from dbSNP and Humsavar for C5orf46 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000027065 -- 147,869,838(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000062454 -- 147,905,047(-) T/C intron_variant
rs1000082624 -- 147,868,948(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000318114 -- 147,856,339(-) ACA/ACACA genic_downstream_transcript_variant, intron_variant
rs1000318734 -- 147,893,023(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf46 Gene

Variant ID Type Subtype PubMed ID
nsv1021356 CNV gain 25217958
nsv1028477 CNV loss 25217958
nsv329560 CNV deletion 16902084
nsv520730 CNV gain 19592680

Variation tolerance for C5orf46 Gene

Residual Variation Intolerance Score: 62.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.64; 97.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf46 Gene

Disorders for C5orf46 Gene

Additional Disease Information for C5orf46

No disorders were found for C5orf46 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf46 Gene

Publications for C5orf46 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PMID: 19199708) Gonzalez-Begne M … Yates JR (Journal of proteome research 2009) 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 4 58

Products for C5orf46 Gene

Sources for C5orf46 Gene

Content
Loading form....