C19orf48 Gene
protein-coding GIFtS: 38
GCID: GC19M051300
|
|
chromosome 19 open reading frame 48
| |
Aliases
for C19orf48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 19 Open Reading Frame 481 2 | | Multidrug Resistance-Related Protein2 3 | | MGC131701 | | Uncharacterized Protein C19orf482 |
Export aliases for C19orf48 gene to outside databasesPrevious GC identifers: GC19M055993 GC19M047635 |
Summaries
for C19orf48 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 C19orf48 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_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C19orf48 gene promoter:
MZF-1 NF-1 Olf-1 NF-kappaB NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for C19orf48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33C19orf48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M051300: view genomic region
(about GC identifiers)
Start:
|
51,300,961 bp from pter |
End:
|
51,307,974 bp from pter |
Size:
|
7,014 bases |
Orientation:
|
minus strand |
|
Proteins
for C19orf48 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: CS048_HUMAN, Q6RUI8 (See
protein sequence)Recommended Name: Uncharacterized protein C19orf48 Size: 117 amino acids; 13085 DaExplore the universe of human proteins at neXtProt for C19orf48: NX_Q6RUI8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6RUI8
C19orf48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_954857.1 NP_954858.1
ENSEMBL proteins: ENSP00000375688 ENSP00000301419
Human Recombinant Protein Products:
C19orf48 Antibody Products:
Assay Products for C19orf48: |
Protein
Domains /
Families
for C19orf48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q6RUI8 |
Function
for C19orf48 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 C19orf48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf48 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): C19orf48 (NM_199250) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C19orf48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf48 |
|
Pathways & Interactions
for C19orf48 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 C19orf48
|
Drugs & Compounds
for C19orf48 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
|
C19orf48 for compounds About GeneDecksing
 Browse Tocris compounds for C19orf48
8 Novoseek chemical compound relationships for C19orf48 gene About this table
Search CenterWatch for drugs/clinical trials and news about C19orf48 / CS048
|
Transcripts
for C19orf48 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 C19orf48 gene (2 alternative transcripts): NM_199249.1 NM_199250.1 Unigene Cluster for C19orf48: Chromosome 19 open reading frame 48 Hs.256301 [show with all ESTs]Unigene Representative Sequence: BC0518422 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000391812(uc002pte.3 uc002ptf.3 uc002ptg.3) ENST00000345523
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf48 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): C19orf48 (NM_199250) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C19orf48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf48 |
Additional cDNA sequence: AY491972.1 BC006151.1 BC037227.1 BC051842.1 19 DOTS entries: DT.100638068 DT.101987337 DT.454062 DT.100638072 DT.95369065 DT.101987336 DT.92455777 DT.92455768 DT.97848040 DT.92455764 DT.97848078 DT.100041651 DT.100638065 DT.121478341 DT.95369074 DT.100689522 DT.100856444 DT.40133335 DT.95369078 24/569 AceView cDNA sequences (see all 569): BU164440 T31430 BE313471 BM698780 BM458378 CR623478 NM_199250 BQ229486 BG420705 CF139233 BG481615 BM564858 BE900322 CR601120 BM796012 BE264391 BC006151 BU931889 BE733372 AI698434 BE256672 BU839647 BI755421 BE900901
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf48 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g | · | 8h | · | 8i | · | 8j | · | 8k |
|---|
|
| SP1: | | | | | | | - | | - | | - | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | - | | | | - | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | - | | - | | - | | - | | | | - | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C19orf48
|
Expression
for C19orf48 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
| C19orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCCCCAAA
About this image
See C19orf48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C19orf48
SOURCE GeneReport for Unigene cluster: Hs.256301
SABiosciences Custom PCR Arrays for C19orf48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C19orf48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C19orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C19orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C19orf48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf48 |
Orthologs
for C19orf48 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 C19orf48 gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
2410002F23Rik5 |
RIKEN cDNA 2410002F23 gene |
-- |
|
7 (28.76 cM) 44246722 |
ENSEMBL Gene Tree for C19orf48 (if available)
TreeFam Gene Tree for C19orf48 (if available) |
Paralogs
for C19orf48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C19orf48 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C19orf48 (51300961 - 51307974 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C19orf48: --
Human Gene Mutation Database (HGMD): C19orf48
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C19orf48 |
|
Disorders
/ Diseases
for C19orf48 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
C19orf48 for disorders About GeneDecksing
20/34  diseases for C19orf48 (see all 34): About MalaCardsfibrous histiocytoma focal cortical dysplasia temporal lobe epilepsy malignant fibrous histiocytoma
intraocular lymphoma b-cell lymphomas histiocytoma parathyroid adenoma
acute promyelocytic leukemia acute lymphoblastic leukemia acute myeloid leukemia lymphoblastic leukemia
myeloid leukemia acute leukemia renal cell carcinoma wilms tumor
leukemia glaucoma breast cancer endometrial cancer
7 Novoseek disease relationships for C19orf48 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| leukemia |
25.5 |
2 |
16324833 (1), 16856922 (1) |
| breast cancer |
17.7 |
7 |
16801542 (1), 16766035 (1), 17904109 (1), 19856333 (1) (see all 6) |
| cancer |
16.9 |
2 |
18226047 (1), 17904109 (1) |
| acute leukemia |
14.1 |
2 |
16614510 (2) |
| tumors |
11 |
4 |
15642200 (1), 16766035 (1), 15543372 (1), 14709322 (1) |
| lymphoma |
0 |
3 |
11380401 (2), 18379939 (1) |
| melanoma |
0 |
2 |
9375571 (1), 10953345 (1) |
Export disorders for C19orf48 gene to outside databases
|
Publications
for C19orf48 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 C19orf48 gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with C19orf48) | |  | 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)1, 2 Gerhard D.S....Malek J. (2004)
- [Cloning and sequence analysis of a new, full-length cDNA fragment of drug resistance-related gene in human lung adenocarcinoma] (PubMed id 12452007)1, 3 Zhou X.D....Chen J. (2002)
- The human lung cancer drug resistance-related gene BC0 06151 regulates chemosensitivity in H446/CDDP cells. (PubMed id 20686220)1 Li S....Qian G. (2010)
- C19orf48 encodes a minor histocompatibility antigen recognized by CD8+ cytotoxic T cells from renal cell carcinoma patients. (PubMed id 18698046)1 Tykodi S.S....Warren E.H. (2008)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- 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)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
- Prognostic significance of multidrug resistance-related proteins in childhood acute lymphoblastic leukaemia. (PubMed id 16324833)9 Swerts K....Philippe J. (2006)
- Prognostic significance of multidrug resistance gene 1 (MDR1), multidrug resistance-related protein (MRP) and lung resistance protein (LRP) mRNA expression in acute leukemia. (PubMed id 16614510)9 Huh H.J....Ghim T. (2006)
|
External Searches for C19orf48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C19orf48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C19orf48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C19orf48 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 C19orf48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C19orf48 gene:
Search GeneIP for patents involving C19orf48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C19orf48 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 C19orf48 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C19orf48 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C19orf48 | | | OriGene Protein Over-expression Lysate for C19orf48 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C19orf48 | | OriGene 3'-UTR Clone for C19orf48 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf48 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C19orf48 | | | 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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| |
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 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf48 |
|  |  |  | | | | Search ThermoFisher Antibodies for C19orf48 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf48 |
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