Aliases for C2orf49 Gene

Aliases for C2orf49 Gene

  • Chromosome 2 Open Reading Frame 49 2 3 5
  • Ashwin 2 3 4
  • 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 Chediak-Higashi Syndrome and Microcephaly 1, Primary, Autosomal Recessive. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C2orf49 Gene

Genomics for C2orf49 Gene

GeneHancer (GH) Regulatory Elements for C2orf49 Gene

Promoters and enhancers for C2orf49 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2orf49 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C2orf49

Top Transcription factor binding sites by QIAGEN in the C2orf49 gene promoter:
  • AML1a
  • E47
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Sox5
  • Zic1

Genomic Locations for C2orf49 Gene

Genomic Locations for C2orf49 Gene
chr2:105,337,359-105,359,940
(GRCh38/hg38)
Size:
22,582 bases
Orientation:
Plus strand
chr2:105,953,816-105,965,668
(GRCh37/hg19)
Size:
11,853 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

Gene Families for C2orf49 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf49 Gene

GenScript: Design optimal peptide antigens:
  • Ashwin (ASHWN_HUMAN)
  • cDNA FLJ55159 (B4E2G9_HUMAN)

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

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

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
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 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 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

PathCards logo

SuperPathways 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

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for C2orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C2orf49

SOURCE GeneReport for Unigene cluster for C2orf49 Gene:

Hs.549577

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
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf49 30
  • 99.43 (n)
C2orf49 31
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf49 31
  • 92 (a)
OneToOne
C10H2orf49 30
  • 91.38 (n)
cow
(Bos Taurus)
Mammalia C2orf49 31
  • 89 (a)
OneToOne
C11H2orf49 30
  • 87.21 (n)
rat
(Rattus norvegicus)
Mammalia RGD1310553 30
  • 85.92 (n)
mouse
(Mus musculus)
Mammalia AI597479 17 31 30
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf49 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H2ORF49 31 30
  • 69.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf49 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf49 30
  • 58.22 (n)
Str.11043 30
African clawed frog
(Xenopus laevis)
Amphibia asw-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-118h3.6 30
  • 54.23 (n)
C9H2orf49 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C2orf49 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs28930676 - p.Gly185Asp

Additional dbSNP identifiers (rs#s) for C2orf49 Gene

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
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

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

Disorder Aliases PubMed IDs
chediak-higashi syndrome
  • chs
microcephaly 1, primary, autosomal recessive
  • mcph1
diffuse idiopathic skeletal hyperostosis
  • ankylosing vertebral hyperostosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 54
  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 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54

Products for C2orf49 Gene

Sources for C2orf49 Gene