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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. Diseases associated with C2orf49 include Amyloidosis, Primary Localized Cutaneous, 1. Among its related pathways are tRNA processing and Gene Expression.

No data available for Entrez Gene 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

Regulatory Elements for C2orf49 Gene

Enhancers for C2orf49 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
GH02F105402 1.6 FANTOM5 Ensembl ENCODE 32.9 +67.3 67343 4.5 FEZF1 GLIS2 FOS SP3 TSHZ1 ZNF585B GLIS1 STAT3 HMBOX1 KDM1A C2orf49 ENSG00000272994 FHL2 ENSG00000238273 TGFBRAP1 ENSG00000235319 GPR45
GH02F105362 0.5 ENCODE 19.8 +25.8 25762 1.6 C2orf49 ENSG00000235319 TGFBRAP1 ENSG00000238273 FHL2
GH02F105293 0.2 ENCODE 19.8 -43.0 -43018 2.6 PKNOX1 ARID4B DNMT3B RAD21 ZNF48 ZBTB40 RARA THAP11 MCM3 ZNF654 TGFBRAP1 C2orf49 ENSG00000235319 GPR45 ENSG00000272994 GC02M105264
GH02F106106 0.2 ENCODE 16.9 +769.9 769887 1.5 SCRT1 CTCF JUNB EBF1 PLRG1 MNT RELA SCRT2 EED IKZF1 C2orf49 UXS1 C2orf40 GC02P106110
GH02F105309 0.8 Ensembl 13.7 -28.0 -27959 0.8 SPI1 TGFBRAP1 C2orf49 GPR45 ENSG00000272994 ENSG00000235319 GC02M105264
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C2orf49 on UCSC Golden Path with GeneCards custom track

Promoters for C2orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001545056 341 2201 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for C2orf49 Gene

Chromosome:
2
Start:
105,337,359 bp from pter
End:
105,359,940 bp from pter
Size:
22,582 bases
Orientation:
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:
    Q9BVC5-ASHWN_HUMAN
    Recommended name:
    Ashwin
    Protein Accession:
    Q9BVC5
    Secondary Accessions:
    • B3KXN3
    • B4E2G9

    Protein attributes for C2orf49 Gene

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

    Alternative splice isoforms for C2orf49 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for C2orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVC5

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for C2orf49 Gene

Function 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for C2orf49 Gene COMPARTMENTS Subcellular localization image for C2orf49 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
extracellular 1
plasma membrane 1

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

Transcripts for C2orf49 Gene

mRNA/cDNA for C2orf49 Gene

Unigene Clusters for C2orf49 Gene

Chromosome 2 open reading frame 49:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:

Relevant External Links for C2orf49 Gene

GeneLoc Exon Structure for
C2orf49
ECgene alternative splicing isoforms for
C2orf49

Expression for C2orf49 Gene

mRNA expression in normal human tissues 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, PaxDb, 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:

C2orf49

SOURCE GeneReport for Unigene cluster for C2orf49 Gene:

Hs.549577
genes like me logo Genes that share expression patterns with C2orf49: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf49 34
  • 99.43 (n)
C2orf49 35
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf49 35
  • 92 (a)
OneToOne
C10H2orf49 34
  • 91.38 (n)
cow
(Bos Taurus)
Mammalia C2orf49 35
  • 89 (a)
OneToOne
C11H2orf49 34
  • 87.21 (n)
rat
(Rattus norvegicus)
Mammalia RGD1310553 34
  • 85.92 (n)
mouse
(Mus musculus)
Mammalia AI597479 34 16 35
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 72 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf49 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF49 34 35
  • 69.59 (n)
lizard
(Anolis carolinensis)
Reptilia C2orf49 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf49 34
  • 58.22 (n)
Str.11043 34
African clawed frog
(Xenopus laevis)
Amphibia asw-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118h3.6 34
  • 54.23 (n)
C9H2orf49 35
  • 43 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C2orf49 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10174630 -- 105,349,829(+) CATAG(C/T)TATGG intron-variant
rs10209781 -- 105,358,869(+) aactt(A/G)gggct intron-variant
rs10211399 -- 105,354,434(+) CCGAG(G/T)TGGGC intron-variant
rs10533537 -- 105,348,528(+) AAATC(-/AT)ATATA intron-variant, utr-variant-3-prime
rs10609902 -- 105,347,146(+) AAACT(-/GT)AAATC intron-variant, utr-variant-3-prime

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)

Relevant External Links for C2orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf49

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

MalaCards: The human disease database

(1) MalaCards diseases for C2orf49 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyloidosis, primary localized cutaneous, 1
  • primary cutaneous amyloidosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C2orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf49
genes like me logo Genes that share disorders with C2orf49: view

No data available for 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 64
  2. HSPC117 is the essential subunit of a human tRNA splicing ligase complex. (PMID: 21311021) Popow J. … Martinez J. (Science 2011) 3 4 64
  3. Novel gene ashwin functions in Xenopus cell survival and anteroposterior patterning. (PMID: 16680723) Patil S.S. … Sater A.K. (Dev. Dyn. 2006) 2 3 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64

Products for C2orf49 Gene

Sources for C2orf49 Gene

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