C2orf49 Gene
protein-coding GIFtS: 38
GCID: GC02P105953
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chromosome 2 open reading frame 49
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Aliases
for C2orf49 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 2 Open Reading Frame 491 2 | | Asw1 | | MGC55091 | | Ashwin1 |
Export aliases for C2orf49 gene to outside databasesPrevious GC identifers: GC02P105320 GC02P099722 |
Summaries
for C2orf49 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for C2orf49 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022171.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C2orf49 gene promoter:
Sox5 AML1a Nkx3-1 v1 Evi-1 E47 Nkx3-1 v2 Zic1 FOXJ2 (long isoform) FOXJ2
Other transcription factors
Search SABiosciences Chromatin IP Primers for C2orf49
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf49 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q12.1 Ensembl cytogenetic band: 2q12.1 HGNC cytogenetic band: 2q12.2C2orf49 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P105953: view genomic region
(about GC identifiers)
Start:
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105,953,816 bp from pter |
End:
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105,965,668 bp from pter |
Size:
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11,853 bases |
Orientation:
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plus strand |
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Proteins
for C2orf49 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ASHWN_HUMAN, Q9BVC5 (See
protein sequence)Recommended Name: Ashwin Size: 232 amino acids; 25858 Da
Subunit: Component of the tRNA-splicing ligase complex
Secondary accessions: B3KXN3Explore the universe of human proteins at neXtProt for C2orf49: NX_Q9BVC5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BVC5
C2orf49 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_076998.1
ENSEMBL proteins: ENSP00000258457 ENSP00000386361 ENSP00000400208
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0072669 | tRNA-splicing ligase complex |
IDA | -- |
C2orf49 for ontologies About GeneDecksing
C2orf49 Antibody Products:
Assay Products for C2orf49: |
Protein
Domains /
Families
for C2orf49 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9BVC5 UniProtKB/Swiss-Prot: ASHWN_HUMAN, Q9BVC5Similarity: Belongs to the ashwin family |
Function
for C2orf49 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: C2orf49 (NM_024093) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C2orf49 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf49 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf49 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
C2orf49 for ontologies About GeneDecksing
|
Pathways & Interactions
for C2orf49 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf49
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
4 Interacting proteins for C2orf49 (ENSP000002584574) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- | | GO:0048598 | embryonic morphogenesis |
-- | -- |
C2orf49 for ontologies About GeneDecksing
|
Drugs & Compounds
for C2orf49 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C2orf49
Search CenterWatch for drugs/clinical trials and news about C2orf49 / ASHWN
|
Transcripts
for C2orf49 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for C2orf49 gene: NM_024093.1 Unigene Cluster for C2orf49: Chromosome 2 open reading frame 49 Hs.549577 [show with all ESTs]Unigene Representative Sequence: AK1276613 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000258457(uc002tcs.1) ENST00000410049(uc010fjd.1) ENST00000437250
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C2orf49 (NM_024093) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C2orf49 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf49 |
Additional cDNA sequence: AK127661.1 AK304268.1 AK307891.1 BC001310.1 6 DOTS entries: DT.438725 DT.412856 DT.100749708 DT.95330922 DT.65288264 DT.91915818 24/111 AceView cDNA sequences (see all 111): AW769652 AA504635 AA404999 BM013624 AL118799 CB995425 AI392851 AA370829 BM712237 AI554617 AI199752 BC001310 H06736 AI080200 AI795943 BM264026 AA885024 AA252371 AW665308 AI276240 AI123206 AW768824 AA582704 AV682843
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf49 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
|---|
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| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C2orf49
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Expression
for C2orf49 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| C2orf49 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTGTGCAGG
About this image
See C2orf49 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf49
SOURCE GeneReport for Unigene cluster: Hs.549577
SABiosciences Custom PCR Arrays for C2orf49
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C2orf49
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C2orf49 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2orf49 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf49 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf49 |
Orthologs
for C2orf49 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for C2orf49 gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for C2orf49 (if available)
TreeFam Gene Tree for C2orf49 (if available) |
Paralogs
for C2orf49 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C2orf49 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C2orf49 (105953816 - 105965668 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C2orf49: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for C2orf49 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
| -- |
Publications
for C2orf49 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for C2orf49 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with C2orf49) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)
- A catalogue of putative HIV-1 protease host cell subst rates. (PubMed id 22944692)1 Impens F....Gevaert K. (2012)
- HSPC117 is the essential subunit of a human tRNA splicing ligase complex. (PubMed id 21311021)2 Popow J....Martinez J. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
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External Searches for C2orf49 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing C2orf49 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C2orf49 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C2orf49 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for C2orf49 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C2orf49 gene:
Search GeneIP for patents involving C2orf49
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C2orf49 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C2orf49 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C2orf49 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C2orf49 | | | OriGene Protein Over-expression Lysate for C2orf49 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C2orf49 | | OriGene 3'-UTR Clone for C2orf49 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf49 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C2orf49 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C2orf49 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf49 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2orf49 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf49 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2orf49 |
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 |  |  |  | |
| | | | Search Tocris compounds for C2orf49 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf49 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf49 |
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