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Aliases for C2orf49 Gene

Aliases for C2orf49 Gene

  • Chromosome 2 Open Reading Frame 49 2 3 5
  • Ashwin 2
  • 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 primary cutaneous amyloidosis. Among its related pathways are Gene Expression and tRNA processing.

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

Promoters for C2orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C2orf49 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for C2orf49 Gene at MOPED

Post-translational modifications for C2orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf49 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

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

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Interacting Proteins for C2orf49 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000258457%0d%0a9606.ENSP00000216038%0d%0a9606.ENSP00000380734%0d%0a9606.ENSP00000261700%0d%0a9606.ENSP00000233084%0d%0a
Selected Interacting proteins: ENSP00000258457 for C2orf49 Gene via STRING

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:

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, MOPED, and MaxQB for C2orf49 Gene



SOURCE GeneReport for Unigene cluster for C2orf49 Gene Hs.549577

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

Protein tissue co-expression partners for C2orf49 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia C11H2orf49 35
  • 87.21 (n)
  • 89.22 (a)
C2orf49 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10H2orf49 35
  • 91.38 (n)
  • 92.24 (a)
C2orf49 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AI597479 35
  • 85.49 (n)
  • 85.34 (a)
AI597479 16
AI597479 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf49 35
  • 99.43 (n)
  • 99.57 (a)
C2orf49 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1310553 35
  • 85.92 (n)
  • 86.64 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf49 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF49 35
  • 69.59 (n)
  • 65.79 (a)
C1H2ORF49 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf49 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf49 35
  • 58.22 (n)
  • 53.99 (a)
Str.11043 35
African clawed frog
(Xenopus laevis)
Amphibia asw-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118h3.6 35
  • 54.23 (n)
  • 50.78 (a)
C9H2orf49 36
  • 43 (a)
OneToOne
Species with no ortholog for C2orf49:
  • 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
rs28930676 - 105,343,135(+) TTCAG(A/G)CCCTG reference, missense
rs726286 -- 105,348,227(+) GTCTC(A/G)GGTCC intron-variant, utr-variant-3-prime
rs2576765 -- 105,341,408(+) GAACT(A/G)CTTAT intron-variant
rs2576766 -- 105,343,590(+) TCACA(C/T)ATTTA intron-variant
rs2576767 -- 105,343,876(+) ATAGG(C/T)GCTTC 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)

Relevant External Links for C2orf49 Gene

HapMap Linkage Disequilibrium report
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
primary cutaneous amyloidosis
  • familial primary localized 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) 3 4 67
  2. Novel gene ashwin functions in Xenopus cell survival and anteroposterior patterning. (PMID: 16680723) Patil S.S. … Sater A.K. (Dev. Dyn. 2006) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Host cell interactome of HIV-1 Rev includes RNA helicases involved in multiple facets of virus production. (PMID: 22174317) Naji S. … Gerace L. (Mol. Cell Proteomics 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for C2orf49 Gene

Sources for C2orf49 Gene

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