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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.

Additional gene information for C4orf48 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for C4orf48 Gene

Promoters and enhancers for C4orf48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I002041 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.4 +6.7 6658 1.1 SIN3A ZBTB7B POLR2B GLIS2 ZNF143 KLF7 ZNF263 RFX3 GMEB1 GLIS1 NELFA GC04P002041 C4orf48 GC04M002053
GH04I002035 Enhancer 0.7 ENCODE 550.8 +0.9 878 1.4 PKNOX1 MAX E4F1 CC2D1A POLR2A PHF20 ATF7 L3MBTL2 DPF2 ELF1 C4orf48 PIR61705 NELFA
GH04I002007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 -26.4 -26402 3.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 NELFA NOP14-AS1 MAEA SCARNA22 C4orf48 SH3BP2 NSD2 MXD4 ENSG00000251148 ZFYVE28
GH04I002361 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 9.8 +327.8 327843 4.5 HDAC1 FOXA2 PKNOX1 ATF1 RB1 RAD21 YY1 EGR1 CREM SMAD5 ZFYVE28 ENSG00000251148 MXD4 CFAP99 LOC105374353 RNF4 POLN HAUS3 NELFA C4orf48
GH04I002401 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +366.8 366793 1.2 HDAC1 PKNOX1 SIN3A ZNF48 EGR1 KLF7 ATF7 EGR2 SP3 SP5 ZFYVE28 RNF4 LOC105374353 ENSG00000251148 MXD4 POLN HAUS3 NELFA C4orf48 GC04P002406
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C4orf48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C4orf48 gene promoter:

Genomic Locations for C4orf48 Gene

Genomic Locations for C4orf48 Gene
8,363 bases
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:
    Recommended name:
    Neuropeptide-like protein C4orf48
    Protein Accession:
    Secondary Accessions:
    • B6ZDN0
    • B7ZBI7
    • B7ZBI8
    • X6RBU3

    Protein attributes for C4orf48 Gene

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

    Alternative splice isoforms for C4orf48 Gene


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

Gene Families for C4orf48 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C4orf48 Gene


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 UniProtKB/Swiss-Prot for C4orf48 Gene

Function for C4orf48 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA 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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C4orf48 gene
Compartment Confidence
extracellular 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000386807 for C4orf48 Gene via STRING

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for C4orf48 Gene


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

Drugs & Compounds for C4orf48 Gene

No Compound Related Data Available

Transcripts for C4orf48 Gene

Unigene Clusters for C4orf48 Gene

Chromosome 4 open reading frame 48:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for C4orf48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C4orf48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for C4orf48 Gene:


mRNA Expression by UniProt/SwissProt for C4orf48 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia C4H4orf48 33
  • 94.23 (n)
C4orf48 34
  • 89 (a)
(Bos Taurus)
Mammalia C6H4orf48 33
  • 92.71 (n)
C4orf48 34
  • 86 (a)
(Canis familiaris)
Mammalia C3H4orf48 33
  • 83.73 (n)
C4orf48 34
  • 58 (a)
(Monodelphis domestica)
Mammalia C4orf48 34
  • 64 (a)
(Mus musculus)
Mammalia Gm1673 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia C4orf48 34
  • 48 (a)
(Gallus gallus)
Aves C4orf48 34
  • 50 (a)
(Anolis carolinensis)
Reptilia C4orf48 34
  • 49 (a)
(Danio rerio)
Actinopterygii C7H4orf48 34
  • 56 (a)
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

Gene Tree for C4orf48 (if available)
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 Variation AA Info Type
rs1000076026 -- 2,041,773(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs1000420320 -- 2,036,193(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs10006421 -- 2,039,561(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000834098 -- 2,035,620(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000978811 -- 2,041,624(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for C4orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for C4orf48 Gene

Additional Disease Information for 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 58
  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 research 2005) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58

Products for C4orf48 Gene

Sources for C4orf48 Gene

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