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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

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
GH04H002401 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +366.8 366793 1 HDAC1 PKNOX1 SIN3A EGR1 KLF7 ATF7 EGR2 SP3 SP5 NR2F2 ZFYVE28 RNF4 LOC105374353 ENSG00000251148 MXD4 HAUS3 POLN NELFA C4orf48 GC04P002406
GH04H002172 1.3 FANTOM5 Ensembl ENCODE 10.5 +137.5 137512 0 SOX13 TFAP4 FOXA2 SAP130 RARA TEAD3 ZFHX2 NR2F6 CREM HOMEZ ENSG00000250623 C4orf48 NELFA HAUS3 POLN GC04M002157 GC04P002140
GH04H002007 1.1 ENCODE 12.1 -26.4 -26402 3 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 NELFA HAUS3 NOP14-AS1 MFSD10 FAM193A RNF4 MAEA SCARNA22 C4orf48 SH3BP2
GH04H002393 1.3 Ensembl ENCODE dbSUPER 9.5 +358.2 358217 0 HDAC1 ATF1 SAP130 ETV1 RELA CTBP1 CBX5 ELK1 FOXK2 POLR2A ZFYVE28 ENSG00000251148 MXD4 HAUS3 POLN RNF4 LOC105374353 C4orf48 NELFA PIR44270
GH04H002361 1.2 FANTOM5 ENCODE 9.8 +327.8 327843 4 HDAC1 TBP FOXA2 PKNOX1 ATF1 RB1 RAD21 YY1 EGR1 CREM ZFYVE28 ENSG00000251148 MXD4 CFAP99 LOC105374353 RNF4 HAUS3 POLN NELFA C4orf48
- Elite enhancer and/or Elite enhancer-gene association 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

Gene Families for C4orf48 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

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 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

Clone Products

  • Applied Biological Materials Clones for C4orf48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386807%0d%0a9606.ENSP00000221930%0d%0a
Selected Interacting proteins: ENSP00000386807 for C4orf48 Gene via STRING

Symbol External ID(s) Details
TGFB1

Gene Ontology (GO) - Biological Process for C4orf48 Gene

None

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

Clone Products

  • Applied Biological Materials Clones for C4orf48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

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 , 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
chimpanzee
(Pan troglodytes)
Mammalia C4H4orf48 33
  • 94.23 (n)
C4orf48 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6H4orf48 33
  • 92.71 (n)
C4orf48 34
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C3H4orf48 33
  • 83.73 (n)
C4orf48 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C4orf48 34
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm1673 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C4orf48 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4orf48 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C4orf48 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C7H4orf48 34
  • 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
rs1000076026 -- 2,041,773(+) CCTTG(A/C)GCTCT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1000420320 -- 2,036,193(+) AGGCG(A/G)CATGA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10006421 -- 2,039,561(+) caggt(A/G)cagtg intron-variant
rs1000834098 -- 2,035,620(+) CTCCC(A/G)AAGTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000978811 -- 2,041,624(+) TGGAC(C/T)CCACT intron-variant, upstream-variant-2KB

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 60
  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 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 60

Products for C4orf48 Gene

Sources for C4orf48 Gene

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