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Aliases for C15orf48 Gene

Aliases for C15orf48 Gene

  • Chromosome 15 Open Reading Frame 48 2 3 5
  • Normal Mucosa Of Esophagus Specific 1 2 3
  • NMES1 3 4
  • Normal Mucosa Of Esophagus-Specific Gene 1 Protein 3
  • MIR147B Host Gene 2
  • Protein FOAP-11 4
  • MIR147B Host 3
  • MIR147BHG 3
  • FOAP-11 3

External Ids for C15orf48 Gene

Previous GeneCards Identifiers for C15orf48 Gene

  • GC15P043511
  • GC15P045722
  • GC15P022547

Summaries for C15orf48 Gene

Entrez Gene Summary for C15orf48 Gene

  • This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]

GeneCards Summary for C15orf48 Gene

C15orf48 (Chromosome 15 Open Reading Frame 48) is a Protein Coding gene. Diseases associated with C15orf48 include Squamous Cell Carcinoma.

Additional gene information for C15orf48 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C15orf48 Gene

Genomics for C15orf48 Gene

Regulatory Elements for C15orf48 Gene

Enhancers for C15orf48 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
GH15H045454 1.7 FANTOM5 ENCODE dbSUPER 38.1 +26.0 25960 4.4 ATF1 ARNT SIN3A FEZF1 GLI4 BRCA1 ZNF143 ZNF207 ATF7 FOS C15orf48 LOC100533853 SPATA5L1 MIR147B SLC30A4 SQOR BLOC1S6 GC15P045452 GC15M045480
GH15H045636 1.7 FANTOM5 ENCODE dbSUPER 32.5 +209.4 209395 6.7 PKNOX1 FOXA2 ARID4B FEZF1 DMAP1 YY1 ZNF766 FOS REST MIER2 C15orf48 SQOR BLOC1S6 ENSG00000259539 LOC100533853 SPATA5L1 SHF GC15P045696
GH15H045444 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.8 +15.6 15622 2.8 KLF1 MAX EBF1 CEBPG ZIC2 SMC3 SMARCC2 PRDM10 E2F6 DEK C15orf48 SPG11 ENSG00000259563 SPATA5L1 SQOR ENSG00000259539 BLOC1S6 LOC100533853 GC15M045447 GC15P045444
GH15H045391 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -38.2 -38227 1.8 MAX BACH1 BATF RELA EED ATF7 ETV6 RUNX3 IKZF2 CREM LOC100533853 SPATA5L1 C15orf48 DUOX1 DUOXA1 BLOC1S6 PIR55932
GH15H045400 1.1 ENCODE 15.3 -27.8 -27826 3.4 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 SPATA5L1 CTDSPL2 SPG11 C15orf48 ENSG00000259563 RNU7-5P SQOR DUOX2 GATM
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C15orf48 on UCSC Golden Path with GeneCards custom track

Promoters for C15orf48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076031 71 401 ATF1 RB1 SIN3A RAD21 GLIS2 ZNF143 RUNX3 CREM THAP11 SMARCA5

Genomic Locations for C15orf48 Gene

Genomic Locations for C15orf48 Gene
18,233 bases
Plus strand

Genomic View for C15orf48 Gene

Genes around C15orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C15orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C15orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C15orf48 Gene

Proteins for C15orf48 Gene

  • Protein details for C15orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Normal mucosa of esophagus-specific gene 1 protein
    Protein Accession:

    Protein attributes for C15orf48 Gene

    83 amino acids
    Molecular mass:
    9617 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C15orf48 Gene

Post-translational modifications for C15orf48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C15orf48 Gene

No data available for DME Specific Peptides for C15orf48 Gene

Domains & Families for C15orf48 Gene

Gene Families for C15orf48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C15orf48 Gene


Suggested Antigen Peptide Sequences for C15orf48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the complex I NDUFA4 subunit family.
  • Belongs to the complex I NDUFA4 subunit family.
genes like me logo Genes that share domains with C15orf48: view

Function for C15orf48 Gene

Phenotypes From GWAS Catalog for C15orf48 Gene

Gene Ontology (GO) - Molecular Function for C15orf48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IBA --
genes like me logo Genes that share ontologies with C15orf48: view

Phenotypes for C15orf48 Gene

genes like me logo Genes that share phenotypes with C15orf48: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C15orf48 Gene

Localization for C15orf48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C15orf48 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 C15orf48 gene
Compartment Confidence
nucleus 5
mitochondrion 4
extracellular 3
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C15orf48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12209954
GO:0005739 mitochondrion IEA --
GO:0005751 mitochondrial respiratory chain complex IV IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C15orf48: view

Pathways & Interactions for C15orf48 Gene

SuperPathways for C15orf48 Gene

No Data Available

Interacting Proteins for C15orf48 Gene

Gene Ontology (GO) - Biological Process for C15orf48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1902600 hydrogen ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with C15orf48: view

No data available for Pathways by source and SIGNOR curated interactions for C15orf48 Gene

Drugs & Compounds for C15orf48 Gene

No Compound Related Data Available

Transcripts for C15orf48 Gene

Unigene Clusters for C15orf48 Gene

Chromosome 15 open reading frame 48:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C15orf48 Gene

No ASD Table

Relevant External Links for C15orf48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C15orf48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C15orf48 Gene

mRNA differential expression in normal tissues according to GTEx for C15orf48 Gene

This gene is overexpressed in Colon - Transverse (x25.4), Esophagus - Mucosa (x5.6), and Small Intestine - Terminal Ileum (x5.1).

Protein differential expression in normal tissues from HIPED for C15orf48 Gene

This gene is overexpressed in Colon (15.8), Rectum (15.6), Islet of Langerhans (7.9), and Testis (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C15orf48 Gene

NURSA nuclear receptor signaling pathways regulating expression of C15orf48 Gene:


SOURCE GeneReport for Unigene cluster for C15orf48 Gene:


mRNA Expression by UniProt/SwissProt for C15orf48 Gene:

Tissue specificity: Expressed mainly in stomach, placenta, small intestine and colon, as well as in normal mucosa of esophagus. Down-regulated in esophageal squamous cell carcinoma.
genes like me logo Genes that share expression patterns with C15orf48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C15orf48 Gene

Orthologs for C15orf48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C15orf48 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C15H15orf48 33
  • 100 (n)
ptr-mir-147b 34
  • 100 (a)
(Bos Taurus)
Mammalia C10H15orf48 33
  • 87.55 (n)
bta-mir-147 34
  • 83 (a)
(Canis familiaris)
Mammalia C30H15orf48 33
  • 85.14 (n)
cfa-mir-147 34
  • 83 (a)
(Mus musculus)
Mammalia AA467197 33 16 34
  • 76.71 (n)
(Rattus norvegicus)
Mammalia MGC105649 33
  • 76.71 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
-- 34
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia oan-mir-147 34
  • 18 (a)
(Gallus gallus)
Aves gga-mir-147 34
  • 60 (a)
(Danio rerio)
Actinopterygii zgc:153317 33
  • 60.57 (n)
C18H15orf48 34
  • 56 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13119 33
Species where no ortholog for C15orf48 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 C15orf48 Gene

Gene Tree for C15orf48 (if available)
Gene Tree for C15orf48 (if available)

Paralogs for C15orf48 Gene

(2) SIMAP similar genes for C15orf48 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with C15orf48: view

No data available for Paralogs for C15orf48 Gene

Variants for C15orf48 Gene

Sequence variations from dbSNP and Humsavar for C15orf48 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000447671 -- 45,432,608(+) TGCAG(C/T)GAGTT intron-variant, upstream-variant-2KB
rs1000711452 -- 45,431,311(+) AAAAC(C/T)CATGA intron-variant, upstream-variant-2KB
rs1000778417 -- 45,430,484(+) GTGCC(C/T)AACGG upstream-variant-2KB
rs1001184663 -- 45,430,969(+) GTGTC(C/T)AAATG intron-variant
rs1002813973 -- 45,428,638(+) AACAA(A/T)TCTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C15orf48 Gene

Variant ID Type Subtype PubMed ID
esv3569553 CNV gain 25503493
esv3892684 CNV gain 25118596
nsv1160292 CNV duplication 26073780
nsv469721 CNV gain 16826518
nsv569315 CNV gain 21841781

Variation tolerance for C15orf48 Gene

Residual Variation Intolerance Score: 61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.90; 67.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C15orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C15orf48 Gene

Disorders for C15orf48 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C15orf48 Gene - From: GeneCards

Disorder Aliases PubMed IDs
squamous cell carcinoma
  • epidermoid carcinoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C15orf48

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C15orf48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C15orf48 Gene

Publications for C15orf48 Gene

  1. A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma. (PMID: 12209954) Zhou J … Liu Z (International journal of cancer 2002) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 60
  4. A regulatory dendritic cell signature correlates with the clinical efficacy of allergen-specific sublingual immunotherapy. (PMID: 22464673) Zimmer A … Moingeon P (The Journal of allergy and clinical immunology 2012) 3 60
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 60

Products for C15orf48 Gene

Sources for C15orf48 Gene

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