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

Aliases for C2orf49 Gene

Aliases for C2orf49 Gene

  • Chromosome 2 Open Reading Frame 49 2 3 5
  • Ashwin 2 3
  • Asw 3

External Ids for C2orf49 Gene

Previous GeneCards Identifiers for C2orf49 Gene

  • GC02P105320
  • GC02P105953
  • GC02P099722

Summaries for C2orf49 Gene

GeneCards Summary for C2orf49 Gene

C2orf49 (Chromosome 2 Open Reading Frame 49) is a Protein Coding gene. Among its related pathways are tRNA processing and Gene Expression.

Additional gene information for C2orf49 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 C2orf49 Gene

Genomics for C2orf49 Gene

GeneHancer (GH) Regulatory Elements for C2orf49 Gene

Promoters and enhancers for C2orf49 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J105336 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 667.9 +0.5 517 3.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 C2orf49 ENSG00000272994 GC02M105333 LOC100506473 ENSG00000238273 GC02M105283
GH02J105322 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 20 -10.3 -10296 9.4 HDGF MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF207 ZNF143 FOS MXD4 TGFBRAP1 C2orf49 ENSG00000272994 ENSG00000235319 GC02M105283
GH02J105384 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.6 +55.1 55067 15.1 PKNOX1 SMAD1 FOXA2 NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 POLR2B ZNF766 FHL2 ENSG00000272994 C2orf49 ENSG00000238273 GC02M105283
GH02J105402 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.1 +67.3 67343 4.5 NEUROD1 SIN3A ZBTB7B GLIS2 FOS SP3 TSHZ1 GMEB1 SMARCA4 ZNF585B C2orf49 ENSG00000272994 FHL2 ENSG00000238273 TGFBRAP1 ENSG00000235319 GPR45 GC02M105283
GH02J105293 Enhancer 0.6 ENCODE 19.8 -43.0 -43017 2.6 SMARCA5 CTCF MXI1 PKNOX1 ZNF654 BHLHE40 PAX8 ZBTB40 RAD21 PRDM10 TGFBRAP1 C2orf49 ENSG00000235319 GPR45 ENSG00000272994 GC02M105264 GC02M105283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf49 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf49 gene promoter:

Genomic Locations for C2orf49 Gene

Genomic Locations for C2orf49 Gene
22,582 bases
Plus strand

Genomic View for C2orf49 Gene

Genes around C2orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf49 Gene

Proteins for C2orf49 Gene

  • Protein details for C2orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KXN3
    • B4E2G9

    Protein attributes for C2orf49 Gene

    232 amino acids
    Molecular mass:
    25858 Da
    Quaternary structure:
    • Component of the tRNA-splicing ligase complex.

    Alternative splice isoforms for C2orf49 Gene


neXtProt entry for C2orf49 Gene

Post-translational modifications for C2orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf49 Gene

No data available for DME Specific Peptides for C2orf49 Gene

Domains & Families for C2orf49 Gene

Gene Families for C2orf49 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf49 Gene


Suggested Antigen Peptide Sequences for C2orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ashwin family.
  • Belongs to the ashwin family.
genes like me logo Genes that share domains with C2orf49: view

Function for C2orf49 Gene

Phenotypes From GWAS Catalog for C2orf49 Gene

Gene Ontology (GO) - Molecular Function for C2orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C2orf49: view
genes like me logo Genes that share phenotypes with C2orf49: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf49

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2orf49 Gene

Localization for C2orf49 Gene

Subcellular locations from

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 C2orf49 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C2orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0072669 tRNA-splicing ligase complex IEA,IDA 21311021
genes like me logo Genes that share ontologies with C2orf49: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C2orf49 Gene

Pathways & Interactions for C2orf49 Gene

genes like me logo Genes that share pathways with C2orf49: view

Pathways by source for C2orf49 Gene

3 Reactome pathways for C2orf49 Gene

Gene Ontology (GO) - Biological Process for C2orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation TAS --
GO:0008150 biological_process ND --
GO:0048598 embryonic morphogenesis IEA --
genes like me logo Genes that share ontologies with C2orf49: view

No data available for SIGNOR curated interactions for C2orf49 Gene

Drugs & Compounds for C2orf49 Gene

No Compound Related Data Available

Transcripts for C2orf49 Gene

mRNA/cDNA for C2orf49 Gene

Unigene Clusters for C2orf49 Gene

Chromosome 2 open reading frame 49:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf49

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf49 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b

Relevant External Links for C2orf49 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf49 Gene

Protein differential expression in normal tissues from HIPED for C2orf49 Gene

This gene is overexpressed in Breast (34.8) and Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2orf49 Gene

Protein tissue co-expression partners for C2orf49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C2orf49 Gene:


SOURCE GeneReport for Unigene cluster for C2orf49 Gene:


Evidence on tissue expression from TISSUES for C2orf49 Gene

  • Liver(4.3)
  • Nervous system(2.6)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with C2orf49: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf49 Gene

Orthologs for C2orf49 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf49 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C2AH2orf49 33
  • 99.43 (n)
C2orf49 34
  • 83 (a)
(Canis familiaris)
Mammalia C2orf49 34
  • 92 (a)
C10H2orf49 33
  • 91.38 (n)
(Bos Taurus)
Mammalia C2orf49 34
  • 89 (a)
C11H2orf49 33
  • 87.21 (n)
(Rattus norvegicus)
Mammalia RGD1310553 33
  • 85.92 (n)
(Mus musculus)
Mammalia AI597479 16 34 33
  • 85.49 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
-- 34
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia C2orf49 34
  • 63 (a)
(Gallus gallus)
Aves C1H2ORF49 34 33
  • 69.59 (n)
(Anolis carolinensis)
Reptilia C2orf49 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf49 33
  • 58.22 (n)
Str.11043 33
African clawed frog
(Xenopus laevis)
Amphibia asw-A-prov 33
(Danio rerio)
Actinopterygii si:dkeyp-118h3.6 33
  • 54.23 (n)
C9H2orf49 34
  • 43 (a)
Species where no ortholog for C2orf49 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)

Evolution for C2orf49 Gene

Gene Tree for C2orf49 (if available)
Gene Tree for C2orf49 (if available)

Paralogs for C2orf49 Gene

No data available for Paralogs for C2orf49 Gene

Variants for C2orf49 Gene

Sequence variations from dbSNP and Humsavar for C2orf49 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000015759 -- 105,341,255(+) A/G intron_variant
rs1000045028 -- 105,349,600(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000109098 -- 105,342,517(+) C/A intron_variant
rs1000228403 -- 105,335,564(+) AA/AAAAAGAA upstream_transcript_variant
rs1000242434 -- 105,349,258(+) G/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Variation tolerance for C2orf49 Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.94; 59.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C2orf49 Gene

Disorders for C2orf49 Gene

Additional Disease Information for C2orf49

No disorders were found for C2orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf49 Gene

Publications for C2orf49 Gene

  1. Analysis of orthologous groups reveals archease and DDX1 as tRNA splicing factors. (PMID: 24870230) Popow J … Martinez J (Nature 2014) 2 3 4 58
  2. HSPC117 is the essential subunit of a human tRNA splicing ligase complex. (PMID: 21311021) Popow J … Martinez J (Science (New York, N.Y.) 2011) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Novel gene ashwin functions in Xenopus cell survival and anteroposterior patterning. (PMID: 16680723) Patil SS … Sater AK (Developmental dynamics : an official publication of the American Association of Anatomists 2006) 2 3 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for C2orf49 Gene

Sources for C2orf49 Gene

Loading form....