C6orf48 Gene
protein-coding GIFtS: 36
GCID: GC06P031817
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|
chromosome 6 open reading frame 48
| |
Aliases
for C6orf48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 6 Open Reading Frame 481 2 | | G81 2 3 5 | | D6S571 2 | | Protein G82 |
Export aliases for C6orf48 gene to outside databasesPrevious GC identifers: GC06U990225 GC06P031857 GC06P031573 GC06P031906 GC06P031910 GC06P031805 GC06P031806 GC06P031807 GC06P031808 GC06P031809 GC06P031810 |
Summaries
for C6orf48 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 C6orf48 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_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167248.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C6orf48 gene promoter:
Max1 PPAR-alpha CP2 STAT3 NF-kappaB NF-kappaB1 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for C6orf48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.33C6orf48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P031817: view genomic region
(about GC identifiers)
Start:
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31,802,385 bp from pter |
End:
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31,807,541 bp from pter |
Size:
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5,157 bases |
Orientation:
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plus strand |
4 alternative locations:
| Chr6+,ALT_REF_LOCI_3 31,784,575-31,800,768 | Chr6+,ALT_REF_LOCI_2 31,789,757-31,834,096 | Chr6+,ALT_REF_LOCI_1 31,813,742-31,827,198 | | Chr6+,ALT_REF_LOCI_6 31,792,647-31,833,380 |
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Proteins
for C6orf48 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: G8_HUMAN, Q9UBA6 (See
protein sequence)Recommended Name: Protein G8 Size: 75 amino acids; 8344 Da
Sequence caution: Sequence=CAB56506.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=CAB56508.1;Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q9BW21 Q9UBA7 Q9UBA8Explore the universe of human proteins at neXtProt for C6orf48: NX_Q9UBA6
C6orf48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001035527.1 NP_001035528.1
ENSEMBL proteins: ENSP00000364791 ENSP00000364792 ENSP00000364790 ENSP00000364789 ENSP00000364786 ENSP00000364793 ENSP00000379135 ENSP00000364784 ENSP00000379134
Human Recombinant Protein Products:
C6orf48 Antibody Products:
Assay Products for C6orf48: |
Protein
Domains /
Families
for C6orf48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9UBA6 |
Function
for C6orf48 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 C6orf48 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C6orf48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for C6orf48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6orf48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf48 |
1 GenomeRNAi human phenotype for C6orf48:
|
Pathways & Interactions
for C6orf48 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 C6orf48
2 Interacting proteins for C6orf48 (Q9UBA63) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for C6orf48 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 C6orf48
Search CenterWatch for drugs/clinical trials and news about C6orf48 / G8
|
Transcripts
for C6orf48 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 C6orf48 gene (3 alternative transcripts): NM_016947.1 NM_001040437.1 NM_001040438.1 Unigene Clusters for C6orf48: Chromosome 6 open reading frame 48 Hs.640836 [show with all ESTs], Hs.714250 [show with all ESTs]Unigene Representative Sequences: BQ057480, BG0249519 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000375640 ENST00000375641 ENST00000375639(uc003rjz.2) ENST00000375638(uc003rjx.2 uc003rjy.2)
ENST00000375635 ENST00000375642 ENST00000395789 ENST00000375633 ENST00000395788
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C6orf48 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C6orf48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): C6orf48 (NM_001040437) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C6orf48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6orf48 |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C6orf48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C6orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6orf48 |
Additional cDNA sequence: BT007334.1 22 DOTS entries: DT.449920 DT.91946817 DT.100827918 DT.100045257 DT.121319650 DT.100827917 DT.95359927 DT.95359942 DT.97866253 DT.121319637 DT.121319647 DT.95359947 DT.91690029 DT.100827913 DT.121319593 DT.91755476 DT.100045258 DT.121319673 DT.100827914 DT.86849313 DT.91668197 DT.121319653 24/668 AceView cDNA sequences (see all 668): BM999430 BQ920527 BM475373 BU619223 BQ181530 BQ066097 BQ942239 AI903534 AA650601 BU542351 BT007334 AW474920 AI015058 BM705330 CA866798 BM729359 AA010524 AW440163 AI890514 AI051063 AI343557 AA720680 BM853869 AI832001
GeneLoc Exon Structure
|
Expression
for C6orf48 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
| C6orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTGTTCTCC
About this image
See C6orf48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C6orf48
SOURCE GeneReport for Unigene clusters: Hs.640836 Hs.714250
SABiosciences Custom PCR Arrays for C6orf48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C6orf48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C6orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6orf48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf48 |
Orthologs
for C6orf48 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 human and mouse.
Orthologs for C6orf48 gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
1110038B12Rik5 |
RIKEN cDNA 1110038B12 gene |
-- |
|
17 (18.49 cM) 34950238 |
ENSEMBL Gene Tree for C6orf48 (if available)
TreeFam Gene Tree for C6orf48 (if available) |
Paralogs
for C6orf48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C6orf48 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 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C6orf48 (31802385 - 31807541 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C6orf48: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C6orf48 |
|
Disorders
/ Diseases
for C6orf48 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
|
C6orf48 for disorders About GeneDecksing
OMIM gene information: 605447
OMIM disorders: --
5  diseases for C6orf48: About MalaCardssystemic lupus erythematosus lupus erythematosus celiac disease gastroenteritis
diarrhea
Human Genome Epidemiology (HuGE) Navigator: C6orf48 (7 documents)
Export disorders for C6orf48 gene to outside databases
|
Publications
for C6orf48 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 C6orf48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C6orf48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- HLA-linked heat-shock protein 70 (HSP70-2) gene polymorphism and celiac disease. (PubMed id 8096093)1, 2, 3 Partanen J....Koskimies S. (1993)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
- Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)1 Fellay J....Goldstein D.B. (2009)
- 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)
- An unappreciated role for RNA surveillance. (PubMed id 14759258)1 Hillman R.T.... Brenner S.E. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
- 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)
|
External Searches for C6orf48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C6orf48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C6orf48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C6orf48 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 C6orf48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C6orf48 gene:
Search GeneIP for patents involving C6orf48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C6orf48 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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 | | | C6orf48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf48 |
|  |  |  | | | | Search ThermoFisher Antibodies for C6orf48 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6orf48 |
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