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Aliases for C2orf72 Gene

Aliases for C2orf72 Gene

  • Chromosome 2 Open Reading Frame 72 2 3 5
  • Uncharacterized Protein C2orf72 3

External Ids for C2orf72 Gene

Previous GeneCards Identifiers for C2orf72 Gene

  • GC02P231611
  • GC02P231902
  • GC02P223744

Summaries for C2orf72 Gene

GeneCards Summary for C2orf72 Gene

C2orf72 (Chromosome 2 Open Reading Frame 72) is a Protein Coding gene.

Additional gene information for C2orf72 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 C2orf72 Gene

Genomics for C2orf72 Gene

GeneHancer (GH) Regulatory Elements for C2orf72 Gene

Promoters and enhancers for C2orf72 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
GH02J231037 Promoter/Enhancer 1.2 Ensembl dbSUPER 661.9 +0.3 311 0.8 CTCF SAP130 ZNF48 RBPJ ZKSCAN1 ZNF335 E2F1 ZBTB48 POLR2A VEZF1 C2orf72 GC02P231047 PIR41760
GH02J231036 Enhancer 0.6 FANTOM5 dbSUPER 650.7 -1.1 -1070 0.2 SP1 EZH2 C2orf72 SPATA3-AS1
GH02J231056 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 32.7 +20.8 20837 4.6 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B PSMD1 HTR2B RPL28P2 DIS3L2 C2orf72 COPS7B ENSG00000224376 NCL SPATA3-AS1 SPATA3
GH02J231040 Enhancer 1.1 ENCODE dbSUPER 44.8 +2.9 2932 0.8 ELF3 FOXA2 MLX ARID4B THRB ZNF48 RAD21 RARA YY1 EGR1 C2orf72 COPS7B SPATA3-AS1 SPATA3 DIS3L2 GC02P231047 PIR41760
GH02J231052 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 21.9 +15.4 15420 1.4 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143 KLF13 ENSG00000261829 C2orf72 COPS7B DIS3L2 PSMD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2orf72 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf72 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • deltaCREB
  • CREB
  • AP-2gamma
  • ARP-1
  • E47
  • NF-kappaB

Genomic Locations for C2orf72 Gene

Genomic Locations for C2orf72 Gene
chr2:231,037,490-231,049,719
(GRCh38/hg38)
Size:
12,230 bases
Orientation:
Plus strand
chr2:231,902,205-231,914,434
(GRCh37/hg19)
Size:
12,230 bases
Orientation:
Plus strand

Genomic View for C2orf72 Gene

Genes around C2orf72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf72 Gene

Proteins for C2orf72 Gene

  • Protein details for C2orf72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NCS6-CB072_HUMAN
    Recommended name:
    Uncharacterized protein C2orf72
    Protein Accession:
    A6NCS6

    Protein attributes for C2orf72 Gene

    Size:
    295 amino acids
    Molecular mass:
    30481 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf72 Gene

Post-translational modifications for C2orf72 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf72 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf72 Gene

Domains & Families for C2orf72 Gene

Gene Families for C2orf72 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf72 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf72: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf72 Gene

Function for C2orf72 Gene

Phenotypes for C2orf72 Gene

genes like me logo Genes that share phenotypes with C2orf72: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2orf72 Gene

Localization for C2orf72 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 C2orf72 gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C2orf72 Gene

Pathways & Interactions for C2orf72 Gene

SuperPathways for C2orf72 Gene

No Data Available

Interacting Proteins for C2orf72 Gene

Gene Ontology (GO) - Biological Process for C2orf72 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf72 Gene

Drugs & Compounds for C2orf72 Gene

No Compound Related Data Available

Transcripts for C2orf72 Gene

mRNA/cDNA for C2orf72 Gene

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

Unigene Clusters for C2orf72 Gene

Chromosome 2 open reading frame 72:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf72 Gene

No ASD Table

Relevant External Links for C2orf72 Gene

GeneLoc Exon Structure for
C2orf72
ECgene alternative splicing isoforms for
C2orf72

Expression for C2orf72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf72 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2orf72 Gene

This gene is overexpressed in Liver (x12.2).

Protein differential expression in normal tissues from HIPED for C2orf72 Gene

This gene is overexpressed in Nasal epithelium (52.7) and Adipocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2orf72 Gene



NURSA nuclear receptor signaling pathways regulating expression of C2orf72 Gene:

C2orf72

SOURCE GeneReport for Unigene cluster for C2orf72 Gene:

Hs.526596

Evidence on tissue expression from TISSUES for C2orf72 Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with C2orf72: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf72 Gene

Orthologs for C2orf72 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf72 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf72 33
  • 97.7 (n)
C2orf72 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C25H2orf72 33
  • 86.79 (n)
C2orf72 34
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2H2orf72 33
  • 84.21 (n)
C2orf72 34
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100362216 33
  • 78.63 (n)
mouse
(Mus musculus)
Mammalia 2810459M11Rik 16 34 33
  • 78.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498583 33
  • 50.38 (n)
Species where no ortholog for C2orf72 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C2orf72 Gene

ENSEMBL:
Gene Tree for C2orf72 (if available)
TreeFam:
Gene Tree for C2orf72 (if available)

Paralogs for C2orf72 Gene

No data available for Paralogs for C2orf72 Gene

Variants for C2orf72 Gene

Sequence variations from dbSNP and Humsavar for C2orf72 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000142095 -- 231,039,130(+) A/C intron_variant
rs1000723470 -- 231,047,301(+) T/C 3_prime_UTR_variant
rs1000753555 -- 231,047,043(+) C/G 3_prime_UTR_variant
rs1000862534 -- 231,041,204(+) C/T intron_variant
rs1000893883 -- 231,041,473(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf72 Gene

Variant ID Type Subtype PubMed ID
nsv1071652 CNV deletion 25765185

Variation tolerance for C2orf72 Gene

Gene Damage Index Score: 6.89; 79.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf72 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf72

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf72 Gene

Disorders for C2orf72 Gene

Additional Disease Information for C2orf72

No disorders were found for C2orf72 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf72 Gene

Publications for C2orf72 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 58
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 58
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for C2orf72 Gene

Sources for C2orf72 Gene

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