Aliases for C17orf78 Gene

Aliases for C17orf78 Gene

  • Chromosome 17 Open Reading Frame 78 2 3 5
  • Uncharacterized Protein C17orf78 3 4

External Ids for C17orf78 Gene

Previous GeneCards Identifiers for C17orf78 Gene

  • GC17P032808
  • GC17P035732
  • GC17P031670

Summaries for C17orf78 Gene

GeneCards Summary for C17orf78 Gene

C17orf78 (Chromosome 17 Open Reading Frame 78) is a Protein Coding gene.

Additional gene information for C17orf78 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C17orf78 Gene

Genomics for C17orf78 Gene

GeneHancer (GH) Regulatory Elements for C17orf78 Gene

Promoters and enhancers for C17orf78 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
GH17J037375 Promoter/Enhancer 0.5 EPDnew ENCODE 500.7 0.0 -44 1.2 C17orf78 piR-50443-164 ACACA lnc-HNF1B-3
GH17J037088 Enhancer 1.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.1 -284.6 -284562 7.5 RFX1 CTCF NR2F2 WT1 ZNF316 MAFF MAFK ELF1 POU2F2 NR2F1 LHX1 C17orf78 lnc-SYNRG-5 RPS2P49 ACACA
GH17J037298 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 11.1 -76.6 -76572 1.8 USF1 ZIC2 TRIM28 ZNF341 OSR2 WT1 ZBTB17 ZNF263 ZNF213 FOS lnc-SYNRG-2 C17orf78 MYO19 piR-38051-126 ACACA lnc-HNF1B-3
GH17J037445 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +73.9 73857 8 USF1 SP1 FOS EP300 TRIM22 BCL11A ZNF316 ZNF384 TCF7L2 SRF TADA2A DUSP14 ACACA C17orf78 DDX52 MRPL45 LOC100419621 piR-41306-113 lnc-HNF1B-3
GH17J037500 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 +125.3 125348 1.8 EP300 FOXK2 NCOR1 KDM6A FOXA1 ZBTB25 SKI TEAD1 ZSCAN9 FOXA2 TADA2A ACACA C17orf78 DUSP14 piR-48272 lnc-HNF1B-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C17orf78 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C17orf78

Top Transcription factor binding sites by QIAGEN in the C17orf78 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • Cart-1
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • GATA-2

Genomic Locations for C17orf78 Gene

Genomic Locations for C17orf78 Gene
chr17:37,375,935-37,392,708
(GRCh38/hg38)
Size:
16,774 bases
Orientation:
Plus strand
chr17:35,732,928-35,749,662
(GRCh37/hg19)
Size:
16,735 bases
Orientation:
Plus strand

Genomic View for C17orf78 Gene

Genes around C17orf78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C17orf78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C17orf78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C17orf78 Gene

Proteins for C17orf78 Gene

  • Protein details for C17orf78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4C9-CQ078_HUMAN
    Recommended name:
    Uncharacterized protein C17orf78
    Protein Accession:
    Q8N4C9
    Secondary Accessions:
    • Q8N8D2

    Protein attributes for C17orf78 Gene

    Size:
    275 amino acids
    Molecular mass:
    30555 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C17orf78 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C17orf78 Gene

Post-translational modifications for C17orf78 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C17orf78 Gene

No data available for DME Specific Peptides for C17orf78 Gene

Domains & Families for C17orf78 Gene

Gene Families for C17orf78 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for C17orf78 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C17orf78: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C17orf78 Gene

Function for C17orf78 Gene

Phenotypes From GWAS Catalog for C17orf78 Gene

genes like me logo Genes that share phenotypes with C17orf78: view

Animal Model Products

CRISPR Products

miRNA for C17orf78 Gene

miRTarBase miRNAs that target C17orf78

Clone 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 C17orf78 Gene

Localization for C17orf78 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C17orf78 Gene

Membrane; Single-pass membrane protein.

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 C17orf78 gene
Compartment Confidence
plasma membrane 2
extracellular 1
cytosol 1
cytoskeleton 0
mitochondrion 0
peroxisome 0
nucleus 0

Gene Ontology (GO) - Cellular Components for C17orf78 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C17orf78: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C17orf78 Gene

Pathways & Interactions for C17orf78 Gene

PathCards logo

SuperPathways for C17orf78 Gene

No Data Available

Interacting Proteins for C17orf78 Gene

;

Gene Ontology (GO) - Biological Process for C17orf78 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C17orf78 Gene

Drugs & Compounds for C17orf78 Gene

No Compound Related Data Available

Transcripts for C17orf78 Gene

mRNA/cDNA for C17orf78 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C17orf78 Gene

No ASD Table

Relevant External Links for C17orf78 Gene

GeneLoc Exon Structure for
C17orf78

Expression for C17orf78 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C17orf78 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C17orf78 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x44.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C17orf78

SOURCE GeneReport for Unigene cluster for C17orf78 Gene:

Hs.439154

Evidence on tissue expression from TISSUES for C17orf78 Gene

  • Intestine(4.4)
genes like me logo Genes that share expression patterns with C17orf78: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C17orf78 Gene

Orthologs for C17orf78 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C17orf78 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf78 30
  • 98.67 (n)
dog
(Canis familiaris)
Mammalia C9H17orf78 30
  • 85.21 (n)
cow
(Bos Taurus)
Mammalia C19H17orf78 30
  • 81.87 (n)
mouse
(Mus musculus)
Mammalia Gm11437 17 30
  • 78.19 (n)
rat
(Rattus norvegicus)
Mammalia LOC102552988 30
  • 77.57 (n)
Species where no ortholog for C17orf78 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 C17orf78 Gene

ENSEMBL:
Gene Tree for C17orf78 (if available)
TreeFam:
Gene Tree for C17orf78 (if available)

Paralogs for C17orf78 Gene

No data available for Paralogs for C17orf78 Gene

Variants for C17orf78 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C17orf78 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1714987 - p.Thr152Ser

Additional dbSNP identifiers (rs#s) for C17orf78 Gene

Structural Variations from Database of Genomic Variants (DGV) for C17orf78 Gene

Variant ID Type Subtype PubMed ID
dgv3157n100 CNV gain 25217958
esv2667392 CNV deletion 23128226
esv2758687 CNV gain 17122850
esv32692 CNV loss 17666407
esv3640487 CNV gain 21293372
esv3640489 CNV loss 21293372
nsv574928 CNV loss 21841781

Variation tolerance for C17orf78 Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C17orf78 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C17orf78

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C17orf78 Gene

Disorders for C17orf78 Gene

Additional Disease Information for C17orf78

No disorders were found for C17orf78 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C17orf78 Gene

Publications for C17orf78 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 54
  2. Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. (PMID: 24999842) Garner C … Neuhausen SL (PloS one 2014) 3 54
  3. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. (PMID: 23535730) Pharoah PD … Sellers TA (Nature genetics 2013) 3 54
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 54
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 54

Products for C17orf78 Gene

  • Biorbyt antibodies for C17orf78

Sources for C17orf78 Gene