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C4orf48 Gene

protein-coding   GIFtS: 35
GCID: GC04P002013

Chromosome 4 Open Reading Frame 48

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 4 Open Reading Frame 481 2
CHR4_552
Neuropeptide-Like Protein C4orf482

External Ids:    HGNC: 344371   Entrez Gene: 4011152   Ensembl: ENSG000002434497   OMIM: 6146905   UniProtKB: Q5BLP83   

Export aliases for C4orf48 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C4orf48 Gene:
C4orf48 (chromosome 4 open reading frame 48) is a protein-coding gene. Diseases associated with C4orf48 include wolf-hirschhorn syndrome.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006051.19  
Regulatory elements:
   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

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C4orf48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 4p16.3

C4orf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf48 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P002013:  view genomic region     (about GC identifiers)

Start:
2,043,689 bp from pter      End:
2,045,697 bp from pter
Size:
2,009 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CD048_HUMAN, Q5BLP8 (See protein sequence)
Recommended Name: Neuropeptide-like protein C4orf48 precursor  
Size: 95 amino acids; 10170 Da
Miscellaneous: Share similarities with neuropeptides, however functional characterization is required to confirm
this hypothesis (PubMed:21287218)
Sequence caution: Sequence=CAX14865.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B6ZDN0 B7ZBI7 B7ZBI8
Alternative splicing: 2 isoforms:  Q5BLP8-1   Q5BLP8-2   

Explore the universe of human proteins at neXtProt for C4orf48: NX_Q5BLP8

Explore proteomics data for C4orf48 at MOPED


See C4orf48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001135408.2  NP_001161715.1  

ENSEMBL proteins: 
 ENSP00000386807   ENSP00000386528   ENSP00000372331  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR028147 Neuropep_like

Graphical View of Domain Structure for InterPro Entry Q5BLP8

ProtoNet protein and cluster: Q5BLP8


C4orf48 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CD048_HUMAN, Q5BLP8: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
cytosol1
endoplasmic reticulum1
mitochondrion1
nucleus1
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

C4orf48 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C4orf48
Interactions:

    Search GeneGlobe Interaction Network for C4orf48

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C4orf48 (CD048)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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: BU536170
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000409248 ENST00000409860(uc003gep.3) ENST00000382878(uc021xkn.1)

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Additional mRNA sequence: 

BC038466.1 BC047038.1 BC062790.1 

2 DOTS entries:

DT.436977  DT.92419144 

Selected AceView cDNA sequences (see all 35):

AI499043 AW157771 AI198154 BU075833 BI964108 AL583585 AA675927 AI341602 
BC047038 BQ129351 AW163448 AI768042 AW160730 BC062790 AW160709 AI929674 
BC038466 BE047596 AW163812 AA675913 BG750299 AI738504 BM688172 BQ067189 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C4orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGCGCGCCC
C4orf48 Expression
About this image

C4orf48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C4orf48 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.446474

UniProtKB/Swiss-Prot: CD048_HUMAN, Q5BLP8
Tissue specificity: Brain-specific (at protein level)

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In Situ
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for C4orf48 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm16735 predicted gene 1673   --   5 (17.83 cM) 33983437 
chicken
(Gallus gallus)
Aves C4orf486
chromosome 4 open reading frame 48
50(a)
1 ↔ 1
4(82685126-82703602)
lizard
(Anolis carolinensis)
Reptilia C4orf486
chromosome 4 open reading frame 48
49(a)
1 ↔ 1
GL343297.1(174091-188196)
zebrafish
(Danio rerio)
Actinopterygii C7H4orf486
chromosome 4 open reading frame 48
56(a)
1 ↔ 1
7(25653331-25658559) ENSDARG00000089877


ENSEMBL Gene Tree for C4orf48 (if available)
TreeFam Gene Tree for C4orf48 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C4orf48 (see all 61)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1440099171,2
--1983524(+) CGCAGC/TGTGGG 2 -- us2k10--------
rs1841322041,2
C--1983560(+) GCCCGA/GCGCGT 2 -- us2k10--------
rs1464252141,2
--1983693(+) GAGAAC/GAGCGC 2 -- us2k10--------
rs4461191,2
C--1983745(-) GGCGCT/CTGGGG 2 -- us2k15Minor allele frequency- C:0.22MN NA EA 428
rs608068631,2
C,F--1984036(+) CAGAAG/CCCCGG 2 -- us2k15Minor allele frequency- C:0.42NA CSA WA 126
rs730773191,2
C--1984578(+) CCCACC/TCTGAC 2 -- us2k10--------
rs730773201,2
C--1984738(+) AGCTCC/TCCGCG 2 -- us2k10--------
rs730773251,2
C,F--1984993(+) CCGCGG/ACCAGC 2 -- us2k11Minor allele frequency- A:0.50WA 2
rs1163335241,2
C,F--1985218(+) GAGACC/TGGCGG 2 -- ut51 int11Minor allele frequency- T:0.18WA 118
rs76544921,2
C,F--1985653(+) TTGTTC/ACCGGG 2 -- int14Minor allele frequency- A:0.33NA WA 242

HapMap Linkage Disequilibrium report for C4orf48 (2043689 - 2045697 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C4orf48:    About this table    
Variant IDTypeSubtypePubMed ID
esv2726835CNV Deletion23290073
dgv5420n71CNV Loss21882294
nsv822441CNV Loss20364138
nsv878418CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for C4orf48

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614690    OMIM disorders: --

1 disease for C4orf48:    
About MalaCards
wolf-hirschhorn syndrome

1 disease from the University of Copenhagen DISEASES database for C4orf48:
Wolf-Hirschhorn syndrome

C4orf48 for disorders           About GeneDecksing


Export disorders for C4orf48 gene to outside databases

(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)
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PubMed articles for C4orf48 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C4orf48)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (Neurogenetics 2011)
  2. 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. (Nucleic Acids Res. 2005)
  3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. 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. (Genome Res. 2004)
  6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 401115 HGNC: 34437 AceView: LOC401115 Ensembl:ENSG00000243449 euGenes: HUgn401115
ECgene: C4orf48 H-InvDB: C4orf48

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C4orf48 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for C4orf48
 Browse SwitchGear Promoter luciferase reporter plasmids for C4orf48
 Search ThermoFisher Antibodies for C4orf48
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C4orf48
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C4orf48
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C4orf48
 Search LSBio for Antibodies for C4orf48
Customized transgenic rodents for:
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