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Aliases for C4orf48 Gene

Aliases for C4orf48 Gene

  • Chromosome 4 Open Reading Frame 48 2 3 5
  • Neuropeptide-Like Protein C4orf48 3
  • CHR4_55 3

External Ids for C4orf48 Gene

Summaries for C4orf48 Gene

GeneCards Summary for C4orf48 Gene

C4orf48 (Chromosome 4 Open Reading Frame 48) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C4orf48 Gene

Genomics for C4orf48 Gene

Regulatory Elements for C4orf48 Gene

Enhancers for C4orf48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F002061 0.4 FANTOM5 12.3 +26.2 26226 0.4 HIC1 BCL11A MXD3 ZBTB33 C4orf48 ENSG00000250623 NAT8L ENSG00000270195 FGFR3 GC04P002062 PIR47482
GH04F002007 0.6 ENCODE 12.1 -26.4 -26402 3.2 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 NELFA MIR943 SCARNA22 C4orf48 NSD2 MIR4800 MXD4 ENSG00000251148 ZFYVE28 ENSG00000250623
GH04F002011 1.1 Ensembl 12.1 -23.9 -23886 0.6 HLF CEBPA CEBPB ZNF384 ZBTB33 CEBPG NELFA C4orf48 MIR943 SCARNA22 NSD2 MIR4800 MXD4 ENSG00000250623 ENSG00000251148 ZFYVE28
GH04F002101 0.9 Ensembl 11.4 +66.3 66282 0.6 CBX3 CBX5 TARDBP IKZF1 ZEB2 TRIM24 TRIM28 ENSG00000250623 MIR943 NELFA C4orf48 MIR4800 MXD4 ENSG00000251148 ZFYVE28 LOC100419959 GC04M002098
GH04F002172 1.2 FANTOM5 Ensembl ENCODE 10.5 +137.3 137295 1.4 SOX13 SAP130 MAX RARA TEAD3 ZFHX2 NR2F6 CREM HOMEZ EGR2 ENSG00000250623 C4orf48 MIR943 NELFA HAUS3 POLN GC04M002157 GC04P002140
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C4orf48 on UCSC Golden Path with GeneCards custom track

Genomic Location for C4orf48 Gene

Chromosome:
4
Start:
2,035,608 bp from pter
End:
2,043,970 bp from pter
Size:
8,363 bases
Orientation:
Plus strand

Genomic View for C4orf48 Gene

Genes around C4orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C4orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C4orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4orf48 Gene

Proteins for C4orf48 Gene

  • Protein details for C4orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5BLP8-CD048_HUMAN
    Recommended name:
    Neuropeptide-like protein C4orf48
    Protein Accession:
    Q5BLP8
    Secondary Accessions:
    • B6ZDN0
    • B7ZBI7
    • B7ZBI8
    • X6RBU3

    Protein attributes for C4orf48 Gene

    Size:
    95 amino acids
    Molecular mass:
    10170 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Share similarities with neuropeptides, however functional characterization is required to confirm this hypothesis.
    SequenceCaution:
    • Sequence=CAX14865.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C4orf48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C4orf48 Gene

Post-translational modifications for C4orf48 Gene

No Post-translational modifications

Other Protein References for C4orf48 Gene

No data available for DME Specific Peptides for C4orf48 Gene

Domains & Families for C4orf48 Gene

Protein Domains for C4orf48 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C4orf48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C4orf48: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C4orf48 Gene

Function for C4orf48 Gene

Phenotypes for C4orf48 Gene

GenomeRNAi human phenotypes for C4orf48:
genes like me logo Genes that share phenotypes with C4orf48: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C4orf48 Gene

Localization for C4orf48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C4orf48 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C4orf48 Gene COMPARTMENTS Subcellular localization image for C4orf48 gene
Compartment Confidence
extracellular 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C4orf48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C4orf48: view

Pathways & Interactions for C4orf48 Gene

SuperPathways for C4orf48 Gene

No Data Available

Interacting Proteins for C4orf48 Gene

Gene Ontology (GO) - Biological Process for C4orf48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C4orf48 Gene

Transcripts for C4orf48 Gene

Unigene Clusters for C4orf48 Gene

Chromosome 4 open reading frame 48:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C4orf48 Gene

No ASD Table

Relevant External Links for C4orf48 Gene

GeneLoc Exon Structure for
C4orf48
ECgene alternative splicing isoforms for
C4orf48

Expression for C4orf48 Gene

mRNA expression in normal human tissues for C4orf48 Gene

Protein differential expression in normal tissues from HIPED for C4orf48 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C4orf48 Gene



Protein tissue co-expression partners for C4orf48 Gene

NURSA nuclear receptor signaling pathways regulating expression of C4orf48 Gene:

C4orf48

SOURCE GeneReport for Unigene cluster for C4orf48 Gene:

Hs.446474

mRNA Expression by UniProt/SwissProt for C4orf48 Gene:

Q5BLP8-CD048_HUMAN
Tissue specificity: Brain-specific (at protein level).
genes like me logo Genes that share expression patterns with C4orf48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for C4orf48 Gene

Orthologs for C4orf48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C4orf48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf48 34
  • 94.23 (n)
C4orf48 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf48 34
  • 92.71 (n)
C4orf48 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C3H4orf48 34
  • 83.73 (n)
C4orf48 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf48 35
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm1673 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf48 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4orf48 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf48 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C7H4orf48 35
  • 56 (a)
OneToOne
Species where no ortholog for C4orf48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C4orf48 Gene

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

Paralogs for C4orf48 Gene

No data available for Paralogs for C4orf48 Gene

Variants for C4orf48 Gene

Sequence variations from dbSNP and Humsavar for C4orf48 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10006421 -- 2,039,561(+) caggt(A/G)cagtg intron-variant
rs10016224 -- 2,034,579(+) tagcg(C/G)tccct intron-variant, upstream-variant-2KB
rs1010917 -- 2,038,502(-) ttgga(A/C)aacat intron-variant
rs112228703 -- 2,038,426(+) GGGAT(C/T)ACAGG intron-variant
rs112942759 -- 2,043,859(+) TTTGC(A/G)GACGG splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for C4orf48 Gene

Variant ID Type Subtype PubMed ID
esv2726835 CNV deletion 23290073
nsv1073718 CNV deletion 25765185
nsv1144067 CNV deletion 24896259
nsv822441 CNV loss 20364138

Variation tolerance for C4orf48 Gene

Gene Damage Index Score: 0.49; 10.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C4orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C4orf48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C4orf48 Gene

Disorders for C4orf48 Gene

Relevant External Links for C4orf48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C4orf48

No disorders were found for C4orf48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C4orf48 Gene

Publications for C4orf48 Gene

  1. C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. (PMID: 21287218) Endele S. … Winterpacht A. (Neurogenetics 2011) 2 3 4 64
  2. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. (PMID: 15809229) Castelo R. … Eyras E. (Nucleic Acids Res. 2005) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for C4orf48 Gene

Sources for C4orf48 Gene

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