C2orf43 Gene
protein-coding GIFtS: 45
GCID: GC02M020883 (predicted)
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|
chromosome 2 open reading frame 43
| |
Aliases
for C2orf43 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 431 2 | | FLJ218201 | | UPF0554 Protein C2orf432 |
Export aliases for C2orf43 gene to outside databasesPrevious GC identifers: GC02M020747 GC02M020641 |
Summaries
for C2orf43 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 C2orf43 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_015926.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C2orf43 gene promoter:
Sox5 AML1a NF-AT NF-AT4 SRY NF-AT2 Sox9 NF-AT3 RSRFC4 NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for C2orf43
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf43 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p24.1 Ensembl cytogenetic band: 2p24.1 HGNC cytogenetic band: 2p24.1C2orf43 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 GC02M020883: view genomic region
(about GC identifiers)
Start:
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20,883,803 bp from pter |
End:
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21,022,882 bp from pter |
Size:
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139,080 bases |
Orientation:
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minus strand |
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Proteins
for C2orf43 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: CB043_HUMAN, Q9H6V9 (See
protein sequence)Recommended Name: UPF0554 protein C2orf43 Size: 325 amino acids; 37319 Da
Secondary accessions: D6W530 Q53T37 Q53T58Alternative splicing: 2 isoforms: Q9H6V9-1 Q9H6V9-2 Explore the universe of human proteins at neXtProt for C2orf43: NX_Q9H6V9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H6V9
C2orf43 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_068744.1
ENSEMBL proteins: ENSP00000384267 ENSP00000370480 ENSP00000237822 ENSP00000396911 ENSP00000400910 ENSP00000385951 ENSP00000414710 ENSP00000388635 ENSP00000440570 ENSP00000400340
Human Recombinant Protein Products:
C2orf43 Antibody Products:
Assay Products for C2orf43: |
Protein
Domains /
Families
for C2orf43 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C2orf43 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H6V9ProtoNet protein and cluster: Q9H6V9 1 Blocks protein family: IPB008262 Lipase
UniProtKB/Swiss-Prot: CB043_HUMAN, Q9H6V9Similarity: Belongs to the UPF0554 family |
Function
for C2orf43 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 C2orf43 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf43
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf43 |
|
Pathways & Interactions
for C2orf43 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 C2orf43
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for C2orf43 (ENSP000002378224) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for C2orf43 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 C2orf43
Search CenterWatch for drugs/clinical trials and news about C2orf43 / CB043
|
Transcripts
for C2orf43 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 C2orf43 gene: NM_021925.2 Unigene Cluster for C2orf43: Chromosome 2 open reading frame 43 Hs.187823 [show with all ESTs]Unigene Representative Sequence: AK02547311 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000403006 ENST00000381090 ENST00000470099 ENST00000237822(uc002rec.3 uc010ykb.1 uc010ykc.1 uc010ykd.1 uc010ykf.1 uc021vem.1 uc010yke.1 uc010yka.1)
ENST00000432947 ENST00000412261 ENST00000402479 ENST00000419825 ENST00000435420
ENST00000541941 ENST00000440866
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf43 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C2orf43
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C2orf43 (NM_021925) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C2orf43 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf43 |
Additional cDNA sequence: AK021672.1 AK025473.1 AK299244.1 AK299555.1 AK300494.1 AK301493.1 AK316162.1 AK316204.1 AK316310.1 AL137397.1 BC017473.1 8 DOTS entries: DT.452495 DT.100742292 DT.100784879 DT.92429981 DT.99970877 DT.95284919 DT.75103947 DT.95357995 24/132 AceView cDNA sequences (see all 132): Z99420 BP350662 BX282105 BF431540 BM021901 CR598141 BQ889654 AA292245 BM475921 BQ896608 BU625320 BU621521 BE878924 AA875950 CK904115 AW291907 BQ897786 CF995010 CA429054 CR617559 BM711475 BC017473 AI433208 BI966098
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf43 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
|---|
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| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | |
| SP4: | | | | | | | | | | | - | | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for C2orf43
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Expression
for C2orf43 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
| C2orf43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAACAATAC
About this image
See C2orf43 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf43
SOURCE GeneReport for Unigene cluster: Hs.187823
SABiosciences Custom PCR Arrays for C2orf43
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C2orf43
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C2orf43 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2orf43 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf43 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf43 |
Orthologs
for C2orf43 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 eukaryotes.
Orthologs for C2orf43 gene from 8/24 species (see all 24) About this table
ENSEMBL Gene Tree for C2orf43 (if available)
TreeFam Gene Tree for C2orf43 (if available) |
Paralogs
for C2orf43 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C2orf43 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 C2orf43 (20883803 - 21022882 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C2orf43
1 CNV: 89525
1 Indel: 78473 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C2orf43 |
|
Disorders
/ Diseases
for C2orf43 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
|
C2orf43 for disorders About GeneDecksing
OMIM gene information: 613570
OMIM disorders: --
5  diseases for C2orf43: About MalaCardsdefective apolipoprotein b-100 arterial calcification prostate cancer cholesterol
prostatitis
Human Genome Epidemiology (HuGE) Navigator: C2orf43 (2 documents)
Export disorders for C2orf43 gene to outside databases
|
Publications
for C2orf43 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 C2orf43 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with C2orf43) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Replication and fine mapping for association of the C2 orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese populati on. (PubMed id 22662242)1 Long Q.Z....Liu X.G. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Genome-wide association study identifies five new sus ceptibility loci for prostate cancer in the Japanese population. (PubMed id 20676098)1 Takata R....Nakagawa H. (2010)
- Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1 Barber M.J....Krauss R.M. (2010)
- Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the o ld order amish. (PubMed id 21059979)1 Shen H....Mitchell B.D. (2010)
|
External Searches for C2orf43 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C2orf43 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C2orf43 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C2orf43 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 C2orf43 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C2orf43 gene:
Search GeneIP for patents involving C2orf43
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C2orf43 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
|
 | |
 | |
 |
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| |
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| | | | Search Tocris compounds for C2orf43 |
| |  |  |  |  | | | | |
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 | | | C2orf43 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf43 |
|  |  |  | | | | Search ThermoFisher Antibodies for C2orf43 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf43 |
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