C5orf48 Gene
protein-coding GIFtS: 32
GCID: GC05P125996 (predicted)
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chromosome 5 open reading frame 48
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Aliases
for C5orf48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 5 Open Reading Frame 481 2 | | FLJ275051 | | MGC1633671 | | MGC1633691 | | Uncharacterized Protein C5orf482 |
Export aliases for C5orf48 gene to outside databasesPrevious GC identifer: GC05P121158 |
Summaries
for C5orf48 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 C5orf48 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_000005.9 NC_018916.1 NT_034772.6
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C5orf48 gene promoter:
Oct-B1 p53 AP-4 Nkx2-5 HNF-3beta HEN1 MEF-2A aMEF-2 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for C5orf48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q23.2 Ensembl cytogenetic band: 5q23.2 HGNC cytogenetic band: 5q23.2C5orf48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P125996: view genomic region
(about GC identifiers)
Start:
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125,967,414 bp from pter |
End:
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125,971,979 bp from pter |
Size:
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4,566 bases |
Orientation:
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plus strand |
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Proteins
for C5orf48 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: CE048_HUMAN, Q6ZNM6 (See
protein sequence)Recommended Name: Uncharacterized protein C5orf48 Size: 134 amino acids; 15452 DaExplore the universe of human proteins at neXtProt for C5orf48: NX_Q6ZNM6
C5orf48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_997291.1
ENSEMBL proteins: ENSP00000349669
Human Recombinant Protein Products:
C5orf48 Antibody Products:
Assay Products for C5orf48: |
Protein
Domains /
Families
for C5orf48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q6ZNM6 |
Function
for C5orf48 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 C5orf48 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: C5orf48 (NM_207408) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C5orf48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf48 |
|
Pathways & Interactions
for C5orf48 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 C5orf48
|
Drugs & Compounds
for C5orf48 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 C5orf48
Search CenterWatch for drugs/clinical trials and news about C5orf48 / CE048
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Transcripts
for C5orf48 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 C5orf48 gene: NM_207408.1 Unigene Cluster for C5orf48: Chromosome 5 open reading frame 48 Hs.177983 [show with all ESTs]Unigene Representative Sequence: BC1304972 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000357147(uc003kub.1) ENST00000506701
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf48 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C5orf48 (NM_207408) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C5orf48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf48 |
Additional cDNA sequence: AK131015.1 BC130495.1 BC130497.1 2 DOTS entries: DT.441288 DT.95300551 10 AceView cDNA sequences: AA400560 AK131015 BX098453 NM_207408 AA400389 AW340732 AA867988 AA778714 AA861703 AA903830
GeneLoc Exon Structure
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Expression
for C5orf48 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
| C5orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTTCAGGAG
About this image
See C5orf48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C5orf48
SOURCE GeneReport for Unigene cluster: Hs.177983
SABiosciences Custom PCR Arrays for C5orf48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C5orf48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C5orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5orf48 |
Orthologs
for C5orf48 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 C5orf48 gene from 2/9 species (see all 9) About this table
ENSEMBL Gene Tree for C5orf48 (if available)
TreeFam Gene Tree for C5orf48 (if available) |
Paralogs
for C5orf48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C5orf48 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 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for C5orf48 (125967414 - 125971979 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C5orf48: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C5orf48 |
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Disorders
/ Diseases
for C5orf48 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 C5orf48 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 C5orf48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C5orf48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for C5orf48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing C5orf48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C5orf48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C5orf48 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 C5orf48 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for C5orf48 gene:
Search GeneIP for patents involving C5orf48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C5orf48 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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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C5orf48 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C5orf48 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C5orf48 | | | OriGene Protein Over-expression Lysate for C5orf48 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C5orf48 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf48 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C5orf48 | | | 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 C5orf48 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C5orf48 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf48 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C5orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5orf48 |
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| | | | Search Tocris compounds for C5orf48 |
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 | | | C5orf48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for C5orf48 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf48 |
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