Aliases for C5orf38 Gene

Aliases for C5orf38 Gene

  • Chromosome 5 Open Reading Frame 38 2 3 5
  • CEI 2 3 4
  • Coordinated Expression To IRXA2 Protein 3 4
  • Coordinated Expression To IRX2 2 3
  • IRX2 Neighbor 2 3
  • Protein CEI 3 4
  • IRX2NB 2 3
  • Coordinated Expression To IRXA2 Homeobox 3
  • HSALNG0039684 164
  • C5orf38 5

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. Diseases associated with C5orf38 include Aortic Valve Disease 1.

Additional gene information for C5orf38 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C5orf38 Gene

Genomics for C5orf38 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH05J002746 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 602.4 +0.9 899 12.9 BRCA1 CREB1 TEAD4 RFX1 KDM1A TARDBP ZHX2 FOXA1 POLR2A EZH2 IRX2 C5orf38 ENSG00000248994 piR-32287-014 IRX1
GH05J002780 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.7 +28.4 28403 1.9 CREB1 TEAD4 TARDBP FOXA1 HES1 BMI1 CTBP1 ZNF444 ZNF316 MAFF C5orf38 IRX2 piR-32287-014 IRX1
GH05J002762 Enhancer 0.5 Ensembl 0.4 +10.5 10545 1.9 ZNF512 NFE2 GATAD2B BACH1 MAFK C5orf38 piR-32287-014 IRX1
GH05J002802 Enhancer 0.7 ENCODE 0.2 +51.0 51019 0.1 TARDBP FOXA1 HES1 ZKSCAN1 FOXA2 ZNF207 GATAD2B CUX1 MBD2 GATA3 HSALNG0039689 LOC100130748 C5orf38 IRX1
GH05J002759 Enhancer 0.3 Ensembl 0.4 +8.1 8082 0.9 FOS RAD21 C5orf38 piR-32287-014 IRX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C5orf38 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C5orf38

Top Transcription factor binding sites by QIAGEN in the C5orf38 gene promoter:
  • AP-2alphaA
  • AP-2beta
  • c-Ets-1
  • COMP1
  • CUTL1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for C5orf38 Gene

Genomic Locations for C5orf38 Gene
chr5:2,751,893-2,758,578
(GRCh38/hg38)
Size:
6,686 bases
Orientation:
Plus strand
chr5:2,752,245-2,755,511
(GRCh37/hg19)
Size:
3,267 bases
Orientation:
Plus strand

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

Other Protein References for C5orf38 Gene

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
  • Predicted secreted proteins

Protein Domains for C5orf38 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C5orf38 Gene

GenScript: Design optimal peptide antigens:
  • Coordinated expression to IRXA2 protein (CEI_HUMAN)
genes like me logo Genes that share domains with C5orf38: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C5orf38 Gene

Function for C5orf38 Gene

Phenotypes From GWAS Catalog for C5orf38 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C5orf38

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
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
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

PathCards logo

SuperPathways for C5orf38 Gene

No Data Available

Interacting Proteins for C5orf38 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q86SI9-CEI_HUMAN ENSP00000334267 for C5orf38 Gene via UniProtKB STRING 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

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
7 RNACentral transcripts :
3 LncBook transcripts :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C5orf38

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

No ASD Table

Relevant External Links for C5orf38 Gene

GeneLoc Exon Structure for
C5orf38

Expression for C5orf38 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Skin(2.4)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with C5orf38: view

Primer Products

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 30
  • 99.03 (n)
C5orf38 31
  • 51 (a)
OneToOne
Species where no ortholog for C5orf38 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Additional dbSNP identifiers (rs#s) for C5orf38 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C5orf38 Gene

Disorders for C5orf38 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C5orf38 Gene - From: DISEASES

Disorder Aliases PubMed IDs
aortic valve disease 1
  • aovd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C5orf38

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with C5orf38: view

No data available for 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
  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
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis MC … He K (Human molecular genetics 2015) 3
  5. 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) 41

Products for C5orf38 Gene

Sources for C5orf38 Gene