Aliases for C5orf22 Gene

Aliases for C5orf22 Gene

  • Chromosome 5 Open Reading Frame 22 2 3 5
  • UPF0489 Protein C5orf22 3 4
  • FLJ11193 2
  • C5orf22 5

External Ids for C5orf22 Gene

Previous GeneCards Identifiers for C5orf22 Gene

  • GC05P031569
  • GC05P031498
  • GC05P031570
  • GC05P031500

Summaries for C5orf22 Gene

GeneCards Summary for C5orf22 Gene

C5orf22 (Chromosome 5 Open Reading Frame 22) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include beta-catenin binding.

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 C5orf22 Gene

Genomics for C5orf22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C5orf22 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
GH05J031530 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.6 -0.1 -91 3.8 BCLAF1 SP1 NCOR1 MYC ZNF600 IKZF1 ZNF580 CEBPA ZNF10 NFIC DROSHA C5orf22 HSALNG0040953 lnc-GOLPH3-3 CDH6
GH05J031492 Enhancer 0.5 Ensembl 11.8 -39.3 -39274 2 SCRT1 ATF4 BHLHE40 USF1 FOS CEBPB SCRT2 piR-57133-475 C5orf22 DROSHA PDZD2 HSALNG0040951 CDH6
GH05J031598 Enhancer 0.4 Ensembl 4.7 +66.7 66726 0.8 EBF1 SPI1 IKZF1 IKZF2 HSALNG0040956 PDZD2 C5orf22 HSALNG0040958 RF00017-4094
GH05J031584 Enhancer 0.3 Ensembl 4.9 +53.7 53726 2.4 TRIM28 ZSCAN4 RF00017-4095 PDZD2 DROSHA C5orf22 RF00026-822 RNU6-363P HSALNG0040956 RF00017-4094
GH05J031538 Enhancer 0.2 Ensembl 8.8 +5.9 5926 0.4 C5orf22 piR-36588-341 HSALNG0040953 PDZD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C5orf22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C5orf22

Top Transcription factor binding sites by QIAGEN in the C5orf22 gene promoter:
  • AML1a
  • Bach2
  • c-Myb
  • Elk-1
  • LCR-F1
  • MyoD
  • N-Myc
  • PPAR-alpha
  • STAT5A

Genomic Locations for C5orf22 Gene

Latest Assembly
chr5:31,532,275-31,555,053
(GRCh38/hg38)
Size:
22,779 bases
Orientation:
Plus strand

Previous Assembly
chr5:31,532,408-31,555,160
(GRCh37/hg19 by Entrez Gene)
Size:
22,753 bases
Orientation:
Plus strand

chr5:31,532,373-31,555,165
(GRCh37/hg19 by Ensembl)
Size:
22,793 bases
Orientation:
Plus strand

Genomic View for C5orf22 Gene

Genes around C5orf22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf22 Gene

Proteins for C5orf22 Gene

  • Protein details for C5orf22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q49AR2-CE022_HUMAN
    Recommended name:
    UPF0489 protein C5orf22
    Protein Accession:
    Q49AR2
    Secondary Accessions:
    • Q8ND28
    • Q8WU61
    • Q9NUR1

    Protein attributes for C5orf22 Gene

    Size:
    442 amino acids
    Molecular mass:
    49967 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C5orf22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C5orf22 Gene

Post-translational modifications for C5orf22 Gene

  • Ubiquitination at Lys118
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C5orf22 Gene

Domains & Families for C5orf22 Gene

Gene Families for C5orf22 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf22 Gene

InterPro:

Suggested Antigen Peptide Sequences for C5orf22 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58933 (B4DR92_HUMAN)
  • UPF0489 protein C5orf22 (CE022_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q49AR2

UniProtKB/Swiss-Prot:

CE022_HUMAN :
  • Belongs to the UPF0489 family.
Family:
  • Belongs to the UPF0489 family.
genes like me logo Genes that share domains with C5orf22: view

Function for C5orf22 Gene

Phenotypes From GWAS Catalog for C5orf22 Gene

Gene Ontology (GO) - Molecular Function for C5orf22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with C5orf22: view
genes like me logo Genes that share phenotypes with C5orf22: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C5orf22

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C5orf22 Gene

Localization for C5orf22 Gene

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 C5orf22 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C5orf22 Gene

Pathways & Interactions for C5orf22 Gene

PathCards logo

SuperPathways for C5orf22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C5orf22 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C5orf22 Gene

Drugs & Compounds for C5orf22 Gene

No Compound Related Data Available

Transcripts for C5orf22 Gene

mRNA/cDNA for C5orf22 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C5orf22

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf22 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - - - -
SP2: - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7: - - - - -
SP8:
SP9: - - -

Relevant External Links for C5orf22 Gene

GeneLoc Exon Structure for
C5orf22

Expression for C5orf22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C5orf22 Gene

Protein differential expression in normal tissues from HIPED for C5orf22 Gene

This gene is overexpressed in Lymph node (17.5), Blymphocyte (11.0), Peripheral blood mononuclear cells (8.1), and Pancreas (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C5orf22 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C5orf22

SOURCE GeneReport for Unigene cluster for C5orf22 Gene:

Hs.519246

Evidence on tissue expression from TISSUES for C5orf22 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with C5orf22: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf22 Gene

Orthologs for C5orf22 Gene

This gene was present in the common ancestor of animals.

Orthologs for C5orf22 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C5orf22 30
  • 100 (a)
OneToOne
C5H5orf22 29
  • 99.47 (n)
Dog
(Canis familiaris)
Mammalia C4H5orf22 29
  • 91.03 (n)
C5orf22 30
  • 88 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C20H5ORF22 30
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1306502 29
  • 83.49 (n)
Mouse
(Mus musculus)
Mammalia 6030458C11Rik 29 16 30
  • 81.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C5orf22 30
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C5orf22 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C5ORF22 29
  • 69.84 (n)
C5orf22 30
  • 64 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C5orf22 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c5orf22 29
  • 69.01 (n)
Str.11883 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68801 29
Zebrafish
(Danio rerio)
Actinopterygii zgc:56556 29
  • 59.6 (n)
C2H5orf22 30
  • 56 (a)
OneToOne
zgc56556 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005414 29
  • 47.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta MESR6 29 30
  • 47.34 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToOne
Species where no ortholog for C5orf22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C5orf22 Gene

ENSEMBL:
Gene Tree for C5orf22 (if available)
TreeFam:
Gene Tree for C5orf22 (if available)
Alliance of Genome Resources:
Additional Orthologs for C5orf22

Paralogs for C5orf22 Gene

No data available for Paralogs for C5orf22 Gene

Variants for C5orf22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C5orf22 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs16901277 -- p.Asp405Glu
rs17410000 -- p.Thr235Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C5orf22 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C5orf22 Gene

Variant ID Type Subtype PubMed ID
esv34132 CNV loss 18971310
esv3604580 CNV gain 21293372
nsv830249 CNV gain 17160897

Variation tolerance for C5orf22 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf22
Leiden Open Variation Database (LOVD)
C5orf22

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf22 Gene

Disorders for C5orf22 Gene

Additional Disease Information for C5orf22

No disorders were found for C5orf22 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C5orf22 Gene

Publications for C5orf22 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. A Proteomic Connectivity Map for Characterizing the Tumor Adaptive Response to Small Molecule Chemical Perturbagens. (PMID: 31846293) Zi Z … Yu Y (ACS chemical biology 2020) 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. (PMID: 31753913) Kim JJ … Miller KM (Genes & development 2019) 3
  5. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3

Products for C5orf22 Gene

Sources for C5orf22 Gene