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Aliases for C5orf38 Gene

Aliases for C5orf38 Gene

  • Chromosome 5 Open Reading Frame 38 2 3 5
  • Coordinated Expression To IRXA2 Protein 3 4
  • Coordinated Expression To IRX2 2 3
  • IRX2 Neighbor 2 3
  • CEI 3 4
  • Coordinated Expression To IRXA2 Homeobox 3
  • Protein CEI 3
  • IRX2NB 3

External Ids for C5orf38 Gene

Previous GeneCards Identifiers for C5orf38 Gene

  • GC05P002806

Summaries for C5orf38 Gene

GeneCards Summary for C5orf38 Gene

C5orf38 (Chromosome 5 Open Reading Frame 38) is a Protein Coding gene.

Additional gene information for C5orf38 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 C5orf38 Gene

Genomics for C5orf38 Gene

GeneHancer (GH) Regulatory Elements for C5orf38 Gene

Promoters and enhancers for C5orf38 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I002746 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.5 -1.8 -1819 7.5 CTCF PKNOX1 DDX20 BACH1 SIN3A ZNF384 ZBTB7B ZFHX2 GATA3 POLR2A IRX2 C5orf38 ENSG00000248994 GC05M002727
GH05I002779 Enhancer 1 ENCODE dbSUPER 12.7 +28.5 28527 1.5 CLOCK NFIB NEUROD1 SIN3A BMI1 ZBTB7B ZNF207 FOS RCOR1 HCFC1 IRX2 C5orf38 LOC100130748
GH05I002780 Enhancer 0.8 ENCODE dbSUPER 12.7 +27.7 27679 0.2 SMARCE1 NCOA3 ZNF687 NFIB GATAD2B DPF2 KLF4 E2F1 ZNF217 CTBP1 C5orf38 IRX2 LOC100130748
GH05I002754 Enhancer 1 Ensembl ENCODE dbSUPER 0.8 +4.0 3976 2.8 CTCF ZNF687 CHD1 BACH1 E2F1 ZNF512B POLR2A TARDBP ZNF444 EZH2 C5orf38 LOC100130748
GH05I002757 Enhancer 0.9 ENCODE dbSUPER 0.4 +6.4 6421 1.7 PKNOX1 NEUROD1 SIN3A BMI1 ZFHX2 CTBP1 GATA3 EGR1 RCOR1 FOS C5orf38 LOC100130748
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C5orf38 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf38 gene promoter:

Genomic Locations for C5orf38 Gene

Genomic Locations for C5orf38 Gene
chr5:2,751,943-2,755,397
(GRCh38/hg38)
Size:
3,455 bases
Orientation:
Plus strand
chr5:2,752,245-2,755,511
(GRCh37/hg19)

Genomic View for C5orf38 Gene

Genes around C5orf38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf38 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf38 Gene

Proteins for C5orf38 Gene

  • Protein details for C5orf38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SI9-CEI_HUMAN
    Recommended name:
    Protein CEI
    Protein Accession:
    Q86SI9

    Protein attributes for C5orf38 Gene

    Size:
    138 amino acids
    Molecular mass:
    15091 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • According to PubMed:16515847, this gene is only represented in primates genome and it is highly conserved. Also found in bats (according to Ensembl).

    Alternative splice isoforms for C5orf38 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C5orf38 Gene

Post-translational modifications for C5orf38 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C5orf38 Gene

Domains & Families for C5orf38 Gene

Gene Families for C5orf38 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf38 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C5orf38 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C5orf38: view

No data available for UniProtKB/Swiss-Prot for C5orf38 Gene

Function for C5orf38 Gene

Phenotypes From GWAS Catalog for C5orf38 Gene

Phenotypes for C5orf38 Gene

genes like me logo Genes that share phenotypes with C5orf38: 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 , Transcription Factor Targets and HOMER Transcription for C5orf38 Gene

Localization for C5orf38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C5orf38 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 C5orf38 gene
Compartment Confidence
extracellular 4
mitochondrion 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C5orf38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with C5orf38: view

Pathways & Interactions for C5orf38 Gene

SuperPathways for C5orf38 Gene

No Data Available

Interacting Proteins for C5orf38 Gene

Selected Interacting proteins: Q86SI9-CEI_HUMAN for C5orf38 Gene via IID

Gene Ontology (GO) - Biological Process for C5orf38 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C5orf38 Gene

Drugs & Compounds for C5orf38 Gene

No Compound Related Data Available

Transcripts for C5orf38 Gene

mRNA/cDNA for C5orf38 Gene

Unigene Clusters for C5orf38 Gene

Chromosome 5 open reading frame 38:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf38 Gene

No ASD Table

Relevant External Links for C5orf38 Gene

GeneLoc Exon Structure for
C5orf38
ECgene alternative splicing isoforms for
C5orf38

Expression for C5orf38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf38 Gene

mRNA differential expression in normal tissues according to GTEx for C5orf38 Gene

This gene is overexpressed in Minor Salivary Gland (x5.4) and Stomach (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of C5orf38 Gene:

C5orf38

SOURCE GeneReport for Unigene cluster for C5orf38 Gene:

Hs.668017

mRNA Expression by UniProt/SwissProt for C5orf38 Gene:

Q86SI9-CEI_HUMAN
Tissue specificity: Isoform 1 is highly expressed in small intestine, testis and kidney, medium expressed in brain and heart and low expressed in colon; it could not be detected in liver, adrenal gland and pancreas.

Evidence on tissue expression from TISSUES for C5orf38 Gene

  • Kidney(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with C5orf38: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf38 Gene

Orthologs for C5orf38 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C5orf38 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf38 33
  • 99.03 (n)
C5orf38 34
  • 51 (a)
OneToOne
Species where no ortholog for C5orf38 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C5orf38 Gene

ENSEMBL:
Gene Tree for C5orf38 (if available)
TreeFam:
Gene Tree for C5orf38 (if available)

Paralogs for C5orf38 Gene

No data available for Paralogs for C5orf38 Gene

Variants for C5orf38 Gene

Sequence variations from dbSNP and Humsavar for C5orf38 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000635180 -- 2,757,387(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001344208 -- 2,753,211(+) G/A intron_variant
rs1001401550 -- 2,750,836(+) G/A upstream_transcript_variant
rs1001537938 -- 2,757,435(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001774135 -- 2,750,671(+) C/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf38 Gene

Variant ID Type Subtype PubMed ID
dgv931n67 CNV gain 20364138
nsv1074267 CNV deletion 25765185
nsv1122099 CNV deletion 24896259
nsv461913 CNV loss 19166990
nsv596918 CNV loss 21841781
nsv822972 CNV gain 20364138
nsv822977 CNV gain 20364138
nsv950637 CNV deletion 24416366

Variation tolerance for C5orf38 Gene

Residual Variation Intolerance Score: 56.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.70; 83.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf38 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf38

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf38 Gene

Disorders for C5orf38 Gene

Additional Disease Information for C5orf38

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for C5orf38 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf38 Gene

Publications for C5orf38 Gene

  1. A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens. (PMID: 16515847) Wu Q … Hansen L (Gene 2006) 2 3 4 58
  2. [High-resolution analysis of chromosome 5 and identification of candidate genes in gastric cancer]. (PMID: 16750006) Yu YY … Lin YZ (Zhonghua zhong liu za zhi [Chinese journal of oncology] 2006) 2 3 58
  3. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis MC … He K (Human molecular genetics 2015) 3 58
  4. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PMID: 17362836) Schymick JC … Traynor BJ (The Lancet. Neurology 2007) 44 58
  5. 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) 4 58

Products for C5orf38 Gene

Sources for C5orf38 Gene

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