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Aliases for C2orf80 Gene

Aliases for C2orf80 Gene

  • Chromosome 2 Open Reading Frame 80 2 3 5
  • Gonad Development Associated 1 2 3
  • Uncharacterized Protein C2orf80 3
  • GONDA1 3

External Ids for C2orf80 Gene

Previous GeneCards Identifiers for C2orf80 Gene

  • GC02M208739
  • GC02M209030
  • GC02M200878

Summaries for C2orf80 Gene

GeneCards Summary for C2orf80 Gene

C2orf80 (Chromosome 2 Open Reading Frame 80) is a Protein Coding gene. Diseases associated with C2orf80 include Gonadal Dysgenesis and 46 Xy Gonadal Dysgenesis.

Additional gene information for C2orf80 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 C2orf80 Gene

Genomics for C2orf80 Gene

Regulatory Elements for C2orf80 Gene

Enhancers for C2orf80 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
GH02H208018 0.4 FANTOM5 1.4 +171.8 171841 0 ZNF274 CREB1 FZD5 PTH2R C2orf80 RNU6-360P GC02M208020 ENSG00000225111
GH02H208175 0.9 ENCODE 0.4 +14.8 14757 0 ELF3 ATF1 RB1 ARID4B ZSCAN9 RAD21 RARA RFX5 YY1 ZNF143 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02H208183 0.6 Ensembl 0.4 +6.3 6258 0 FOXA2 GABPA JUND ATF3 CEBPA POU5F1 HNF4G HNF4A FOXP2 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C2orf80 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf80 Gene

Chromosome:
2
Start:
208,165,343 bp from pter
End:
208,190,258 bp from pter
Size:
24,916 bases
Orientation:
Minus strand

Genomic View for C2orf80 Gene

Genes around C2orf80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf80 Gene

Proteins for C2orf80 Gene

  • Protein details for C2orf80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0P641-CB080_HUMAN
    Recommended name:
    Uncharacterized protein C2orf80
    Protein Accession:
    Q0P641
    Secondary Accessions:
    • A6NKZ3

    Protein attributes for C2orf80 Gene

    Size:
    193 amino acids
    Molecular mass:
    22038 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf80 Gene

Post-translational modifications for C2orf80 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C2orf80 Gene

Domains & Families for C2orf80 Gene

Gene Families for C2orf80 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf80 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf80: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf80 Gene

Function for C2orf80 Gene

Phenotypes From GWAS Catalog for C2orf80 Gene

genes like me logo Genes that share phenotypes with C2orf80: view

Animal Models for C2orf80 Gene

MGI Knock Outs for C2orf80:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2orf80
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C2orf80 Gene

Localization for C2orf80 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 C2orf80 gene
Compartment Confidence
mitochondrion 2
nucleus 2
golgi apparatus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C2orf80 Gene

Pathways & Interactions for C2orf80 Gene

SuperPathways for C2orf80 Gene

No Data Available

Interacting Proteins for C2orf80 Gene

Gene Ontology (GO) - Biological Process for C2orf80 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf80 Gene

Drugs & Compounds for C2orf80 Gene

No Compound Related Data Available

Transcripts for C2orf80 Gene

mRNA/cDNA for C2orf80 Gene

Unigene Clusters for C2orf80 Gene

Chromosome 2 open reading frame 80:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C2orf80
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf80 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: - -

Relevant External Links for C2orf80 Gene

GeneLoc Exon Structure for
C2orf80
ECgene alternative splicing isoforms for
C2orf80

Expression for C2orf80 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf80 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2orf80 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.6), Brain - Frontal Cortex (BA9) (x6.9), Brain - Cortex (x6.7), Brain - Amygdala (x6.3), Brain - Nucleus accumbens (basal ganglia) (x5.7), Brain - Hippocampus (x4.6), and Brain - Hypothalamus (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of C2orf80 Gene:

C2orf80

SOURCE GeneReport for Unigene cluster for C2orf80 Gene:

Hs.198416
genes like me logo Genes that share expression patterns with C2orf80: view

Primer Products

No data available for 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 C2orf80 Gene

Orthologs for C2orf80 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf80 33
  • 99.48 (n)
C2orf80 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2H2orf80 33 34
  • 88.43 (n)
dog
(Canis familiaris)
Mammalia C2orf80 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D630023F18Rik 33 16 34
  • 80.08 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf80 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf80 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489057 33
  • 63.37 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536292 33
  • 52.72 (n)
Species where no ortholog for C2orf80 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2orf80 Gene

ENSEMBL:
Gene Tree for C2orf80 (if available)
TreeFam:
Gene Tree for C2orf80 (if available)

Paralogs for C2orf80 Gene

Pseudogenes.org Pseudogenes for C2orf80 Gene

genes like me logo Genes that share paralogs with C2orf80: view

No data available for Paralogs for C2orf80 Gene

Variants for C2orf80 Gene

Sequence variations from dbSNP and Humsavar for C2orf80 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000010684 -- 208,171,686(+) ACAAG(A/T)GATCC intron-variant
rs1000051543 -- 208,166,575(+) TGTCT(C/T)ATTTC intron-variant
rs1000052503 -- 208,187,967(+) CCCTG(A/C)GTCTG intron-variant
rs1000156505 -- 208,172,347(+) CTTTA(C/T)AGCCA intron-variant
rs1000317000 -- 208,176,818(+) GTGCT(C/T)AACAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf80 Gene

Variant ID Type Subtype PubMed ID
dgv7268n54 CNV loss 21841781
dgv758e214 CNV loss 21293372
esv2721408 CNV deletion 23290073
esv274878 CNV loss 21479260
esv2763083 CNV loss 21179565
esv3348710 CNV insertion 20981092
esv3560892 CNV deletion 23714750
esv3584291 CNV loss 25503493
esv3584292 CNV loss 25503493
esv3893540 CNV loss 25118596
nsv508883 CNV insertion 20534489
nsv522180 CNV loss 19592680
nsv524826 CNV loss 19592680
nsv584297 CNV gain 21841781
nsv584298 CNV loss 21841781
nsv584299 CNV loss 21841781
nsv834517 CNV loss 17160897

Variation tolerance for C2orf80 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2orf80 Gene

Human Gene Mutation Database (HGMD)
C2orf80
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf80 Gene

Disorders for C2orf80 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C2orf80 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gonadal dysgenesis
  • gonadal dysgenesis syndrome
46 xy gonadal dysgenesis
  • 46,xy sex reversal
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C2orf80

Genetic Association Database (GAD)
C2orf80
Human Genome Epidemiology (HuGE) Navigator
C2orf80
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf80
genes like me logo Genes that share disorders with C2orf80: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C2orf80 Gene

Publications for C2orf80 Gene

  1. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. (PMID: 24055526) Norling A … Barbaro M (European journal of medical genetics 2013) 2 3 60
  2. Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion. (PMID: 22080834) Hill MJ … Bray NJ (Human molecular genetics 2012) 2 3 60
  3. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 45 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 60
  5. 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) 4 60

Products for C2orf80 Gene

Sources for C2orf80 Gene

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