C4orf48 Gene
protein-coding GIFtS: 32
GCID: GC04P002013
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chromosome 4 open reading frame 48
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Aliases
for C4orf48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 4 Open Reading Frame 481 2 | | CHR4_552 | | Neuropeptide-Like Protein C4orf482 |
Export aliases for C4orf48 gene to outside databases |
Summaries
for C4orf48 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 C4orf48 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_000004.11 NC_018915.1 NT_006051.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C4orf48 gene promoter:
POU2F2 (Oct-2.1) GR GR-beta POU2F2 Roaz POU2F2C POU2F1 POU2F1a GR-alpha POU2F2B
Other transcription factors
Search SABiosciences Chromatin IP Primers for C4orf48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4orf48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3C4orf48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P002013: view genomic region
(about GC identifiers)
Start:
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2,043,689 bp from pter |
End:
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2,045,697 bp from pter |
Size:
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2,009 bases |
Orientation:
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plus strand |
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Proteins
for C4orf48 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: CD048_HUMAN, Q5BLP8 (See
protein sequence)Recommended Name: Neuropeptide-like protein C4orf48 precursor Size: 95 amino acids; 10170 Da
Subcellular location: Secreted (Potential)
Miscellaneous: Share similarities with neuropeptides, however functional characterization is required to confirm thishypothesis (PubMed:21287218)
Sequence caution: Sequence=CAX14865.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B6ZDN0 B7ZBI7 B7ZBI8Alternative splicing: 2 isoforms: Q5BLP8-1 Q5BLP8-2 Explore the universe of human proteins at neXtProt for C4orf48: NX_Q5BLP8
C4orf48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001135408.2 NP_001161715.1
ENSEMBL proteins: ENSP00000386807 ENSP00000386528 ENSP00000372331
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:0005576 | extracellular region |
IEA | -- |
C4orf48 for ontologies About GeneDecksing
C4orf48 Antibody Products:
Assay Products for C4orf48: |
Protein
Domains /
Families
for C4orf48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q5BLP8 |
Function
for C4orf48 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 C4orf48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C4orf48 (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): C4orf48 (NM_001141936) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C4orf48 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C4orf48 |
|
Pathways & Interactions
for C4orf48 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 C4orf48
|
Drugs & Compounds
for C4orf48 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 C4orf48
Search CenterWatch for drugs/clinical trials and news about C4orf48 / CD048
|
Transcripts
for C4orf48 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 C4orf48 gene (2 alternative transcripts): NM_001141936.2 NM_001168243.1 Unigene Cluster for C4orf48: Chromosome 4 open reading frame 48 Hs.446474 [show with all ESTs]Unigene Representative Sequence: BU5361703 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000409248 ENST00000409860(uc003gep.3) ENST00000382878(uc021xkn.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C4orf48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C4orf48 (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): C4orf48 (NM_001141936) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C4orf48 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C4orf48 |
Additional cDNA sequence: BC038466.1 BC047038.1 BC062790.1 2 DOTS entries: DT.436977 DT.92419144 24/35 AceView cDNA sequences (see all 35): AI198154 AI499043 BU075833 AW157771 AI929674 BE047596 AI341602 BC062790 BC038466 AW163448 BC047038 AW160730 AW163812 AI768042 AA675927 BI964108 AL583585 AW160709 BQ129351 BM688172 BG750299 AI738504 AA675913 BQ129383
GeneLoc Exon Structure
|
Expression
for C4orf48 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
| C4orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCGCGCCC
About this image
See C4orf48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C4orf48
SOURCE GeneReport for Unigene cluster: Hs.446474
UniProtKB/Swiss-Prot: CD048_HUMAN, Q5BLP8Tissue specificity: Brain-specific (at protein level)
SABiosciences Custom PCR Arrays for C4orf48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C4orf48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C4orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C4orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C4orf48 |
Orthologs
for C4orf48 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 C4orf48 gene from 4/10 species (see all 10) About this table
ENSEMBL Gene Tree for C4orf48 (if available)
TreeFam Gene Tree for C4orf48 (if available) |
Paralogs
for C4orf48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C4orf48 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
| | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for C4orf48 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
|
C4orf48 for disorders About GeneDecksing
OMIM gene information: 614690
OMIM disorders: --
1  disease for C4orf48: About MalaCardswolf-hirschhorn syndrome
1 disease from the University of Copenhagen DISEASES database for C4orf48:Wolf-Hirschhorn syndrome Export disorders for C4orf48 gene to outside databases
|
Publications
for C4orf48 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 C4orf48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C4orf48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. (PubMed id 21287218)1, 2, 3 Endele S....Winterpacht A. (2011)
- Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. (PubMed id 15809229)1, 2 Castelo R.... Eyras E. (2005)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)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)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 Strausberg R.L....Marra M.A. (2002)
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External Searches for C4orf48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing C4orf48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C4orf48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C4orf48 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 C4orf48 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for C4orf48 gene:
Search GeneIP for patents involving C4orf48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C4orf48 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 C4orf48 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C4orf48 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C4orf48 | | | OriGene Protein Over-expression Lysate for C4orf48 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C4orf48 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C4orf48 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C4orf48 | | | 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 | | | OriGene Purified Protein for C4orf48 | | 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 C4orf48 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C4orf48 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4orf48 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C4orf48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C4orf48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C4orf48 |
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| | | | Search Tocris compounds for C4orf48 |
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 | | | C4orf48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for C4orf48 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C4orf48 |
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