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Aliases for C2orf78 Gene

Aliases for C2orf78 Gene

  • Chromosome 2 Open Reading Frame 78 2 3 5
  • Uncharacterized Protein C2orf78 3
  • HCG1989538 3
  • COG5373 3

External Ids for C2orf78 Gene

Previous GeneCards Identifiers for C2orf78 Gene

  • GC02P073864
  • GC02P074011

Summaries for C2orf78 Gene

GeneCards Summary for C2orf78 Gene

C2orf78 (Chromosome 2 Open Reading Frame 78) is a Protein Coding gene.

Additional gene information for C2orf78 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 C2orf78 Gene

Genomics for C2orf78 Gene

GeneHancer (GH) Regulatory Elements for C2orf78 Gene

Promoters and enhancers for C2orf78 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
GH02I073782 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 -0.6 -608 1.2 ZNF3 TFE3 TEAD1 SP5 TEAD3 MITF FOSL1 SREBF1 LCORL C2orf78 TPRKB CCT7 DUSP11
GH02I073759 Enhancer 0.5 ENCODE 11.8 -24.5 -24507 0.8 CREB1 HNF4A NR2F2 GABPA DUSP11 C2orf78 TPRKB STAMBP TET3 BOLA3 BOLA3-AS1 ENSG00000280037 ENSG00000273245
GH02I073824 Enhancer 0.7 ENCODE 0.3 +39.9 39940 0.2 CTCF ZSCAN9 RAD21 ZBTB40 CC2D1A ZNF143 SMC3 PRDM10 RUNX3 SMARCA5 STAMBP LOC105374807 C2orf78
GH02I073821 Enhancer 0.7 FANTOM5 0.3 +37.3 37279 0.1 PKNOX1 BACH1 EBF1 BATF IRF4 RELA IKZF2 ZNF687 JUNB DPF2 WBP1 SMYD5 ENSG00000159239 ALMS1 MOB1A MTHFD2 LOC105374807 STAMBP C2orf78
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf78 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf78 gene promoter:

Genomic Locations for C2orf78 Gene

Genomic Locations for C2orf78 Gene
chr2:73,784,189-73,817,148
(GRCh38/hg38)
Size:
32,960 bases
Orientation:
Plus strand
chr2:74,011,316-74,044,274
(GRCh37/hg19)

Genomic View for C2orf78 Gene

Genes around C2orf78 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf78 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf78 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf78 Gene

Proteins for C2orf78 Gene

  • Protein details for C2orf78 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCI8-CB078_HUMAN
    Recommended name:
    Uncharacterized protein C2orf78
    Protein Accession:
    A6NCI8

    Protein attributes for C2orf78 Gene

    Size:
    922 amino acids
    Molecular mass:
    100170 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf78 Gene

Post-translational modifications for C2orf78 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf78 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf78 Gene

Domains & Families for C2orf78 Gene

Gene Families for C2orf78 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf78 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf78: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf78 Gene

Function for C2orf78 Gene

Phenotypes for C2orf78 Gene

genes like me logo Genes that share phenotypes with C2orf78: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2orf78 Gene

Localization for C2orf78 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 C2orf78 gene
Compartment Confidence
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C2orf78 Gene

Pathways & Interactions for C2orf78 Gene

SuperPathways for C2orf78 Gene

No Data Available

Interacting Proteins for C2orf78 Gene

Gene Ontology (GO) - Biological Process for C2orf78 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf78 Gene

Drugs & Compounds for C2orf78 Gene

No Compound Related Data Available

Transcripts for C2orf78 Gene

mRNA/cDNA for C2orf78 Gene

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

Unigene Clusters for C2orf78 Gene

Chromosome 2 open reading frame 78:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf78 Gene

No ASD Table

Relevant External Links for C2orf78 Gene

GeneLoc Exon Structure for
C2orf78
ECgene alternative splicing isoforms for
C2orf78

Expression for C2orf78 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf78 Gene

mRNA differential expression in normal tissues according to GTEx for C2orf78 Gene

This gene is overexpressed in Testis (x51.5).

NURSA nuclear receptor signaling pathways regulating expression of C2orf78 Gene:

C2orf78

SOURCE GeneReport for Unigene cluster for C2orf78 Gene:

Hs.456833
genes like me logo Genes that share expression patterns with C2orf78: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf78 Gene

Orthologs for C2orf78 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C2orf78 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf78 33
  • 98.84 (n)
C2orf78 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C17H2orf78 33
  • 82.73 (n)
C2orf78 34
  • 72 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C11H2orf78 33
  • 81.47 (n)
C2orf78 34
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690284 33
  • 67.29 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf78 34
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5114 34
  • 48 (a)
OneToMany
Gm5591 34
  • 47 (a)
OneToMany
Gm5592 34
  • 46 (a)
OneToMany
4930433I11Rik 34
  • 45 (a)
OneToMany
Gm4884 34
  • 45 (a)
OneToMany
Gm2128 34
  • 44 (a)
OneToMany
Gm6605 34
  • 43 (a)
OneToMany
Gm21142 34
  • 39 (a)
OneToMany
Gm21276 34
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
Species where no ortholog for C2orf78 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)
  • 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 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 C2orf78 Gene

ENSEMBL:
Gene Tree for C2orf78 (if available)
TreeFam:
Gene Tree for C2orf78 (if available)

Paralogs for C2orf78 Gene

No data available for Paralogs for C2orf78 Gene

Variants for C2orf78 Gene

Sequence variations from dbSNP and Humsavar for C2orf78 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000001547 -- 73,810,711(+) T/C intron_variant
rs1000231716 -- 73,782,696(+) G/C upstream_transcript_variant
rs1000233665 -- 73,812,408(+) C/T intron_variant
rs1000317575 -- 73,812,737(+) A/G intron_variant
rs1000328894 -- 73,813,055(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf78 Gene

Variant ID Type Subtype PubMed ID
dgv15n31 CNV gain 19718026
dgv3870n100 CNV gain 25217958
esv2759060 CNV gain 17122850
esv28264 CNV gain+loss 19812545
esv3327234 CNV duplication 20981092
esv3391910 CNV duplication 20981092
esv3392660 CNV duplication 20981092
esv3402088 CNV duplication 20981092
esv3419356 CNV duplication 20981092
esv3591270 CNV loss 21293372
nsv10024 CNV gain+loss 18304495
nsv1115560 CNV duplication 24896259
nsv1115561 CNV duplication 24896259
nsv1146325 CNV duplication 26484159
nsv1153492 CNV duplication 26484159
nsv2780 CNV deletion 18451855
nsv2781 CNV insertion 18451855
nsv482051 CNV gain 20164927
nsv508842 CNV insertion 20534489
nsv511053 OTHER complex 20534489
nsv582211 CNV loss 21841781
nsv582212 CNV loss 21841781
nsv834260 CNV gain 17160897
nsv953150 CNV duplication 24416366
nsv961416 CNV duplication 23825009
nsv961417 CNV duplication 23825009
nsv961418 CNV duplication 23825009
nsv963622 CNV duplication 23825009
nsv979023 CNV duplication 23825009
nsv979024 CNV duplication 23825009
nsv979025 CNV duplication 23825009

Variation tolerance for C2orf78 Gene

Residual Variation Intolerance Score: 35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf78 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf78

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf78 Gene

Disorders for C2orf78 Gene

Additional Disease Information for C2orf78

No disorders were found for C2orf78 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf78 Gene

Publications for C2orf78 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for C2orf78 Gene

Sources for C2orf78 Gene

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