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Aliases for C4orf48 Gene

Aliases for C4orf48 Gene

  • Chromosome 4 Open Reading Frame 48 2 3
  • 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

Genomic Location for C4orf48 Gene

Start:
2,041,993 bp from pter
End:
2,043,970 bp from pter
Size:
1,978 bases
Orientation:
Plus strand

Genomic View for C4orf48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C4orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C4orf48 Gene

Regulatory Elements 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

Proteomics data for C4orf48 Gene at MOPED

Post-translational modifications for C4orf48 Gene

No Post-translational modifications

Other Protein References for C4orf48 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C4orf48 Gene

Domains 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

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 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 for C4orf48 Gene

Transcripts for C4orf48 Gene

Unigene Clusters for C4orf48 Gene

Chromosome 4 open reading frame 48:
Representative Sequences:

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

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for C4orf48 Gene

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 expressions with C4orf48: view

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 35
  • 94.23 (n)
  • 93.7 (a)
C4orf48 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C4orf48 36
  • 86 (a)
OneToOne
C6H4orf48 35
  • 92.71 (n)
  • 96.87 (a)
dog
(Canis familiaris)
Mammalia C3H4orf48 35
  • 83.73 (n)
  • 76.8 (a)
C4orf48 36
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm1673 16
Gm1673 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf48 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf48 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4orf48 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf48 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C7H4orf48 36
  • 56 (a)
OneToOne
Species with no ortholog for C4orf48:
  • 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 MAF
rs391856 -- 2,044,312(-) CTCCC(A/G)CAGTC downstream-variant-500B
rs405638 -- 2,043,063(-) AGAGC(C/T)TTCTG intron-variant
rs446119 -- 2,040,676(-) GGCGC(C/T)TGGGG upstream-variant-2KB
rs457379 -- 2,043,170(-) CCTTG(C/G)CGCCC intron-variant
rs462886 -- 2,043,171(-) GCCTT(C/G)CCGCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv878418 CNV Loss 21882294
nsv822441 CNV Loss 20364138
esv2726835 CNV Deletion 23290073
dgv5420n71 CNV Loss 21882294

Relevant External Links for C4orf48 Gene

HapMap Linkage Disequilibrium report
C4orf48

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

Disorders for C4orf48 Gene

(1) University of Copenhagen DISEASES for C4orf48 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  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
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. 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
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4

Products for C4orf48 Gene

Sources for C4orf48 Gene

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