Aliases for C22orf23 Gene

Aliases for C22orf23 Gene

  • Chromosome 22 Open Reading Frame 23 2 3 5
  • UPF0193 Protein EVG1 3 4
  • DJ1039K5.6 3
  • EVG1 3

External Ids for C22orf23 Gene

Previous GeneCards Identifiers for C22orf23 Gene

  • GC22M034954
  • GC22M036582
  • GC22M036664
  • GC22M038339
  • GC22M021305
  • GC22M038391
  • GC22M038513
  • GC22M042805
  • GC22M042920
  • GC22M042992
  • GC22M038825
  • GC22M039962
  • GC22M040653
  • GC22M041102
  • GC22M041505
  • GC22M041915
  • GC22M042355
  • GC22M042691

Summaries for C22orf23 Gene

GeneCards Summary for C22orf23 Gene

C22orf23 (Chromosome 22 Open Reading Frame 23) is a Protein Coding gene. Diseases associated with C22orf23 include Leukodystrophy, Hypomyelinating, 12.

Additional gene information for C22orf23 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 C22orf23 Gene

Genomics for C22orf23 Gene

GeneHancer (GH) Regulatory Elements for C22orf23 Gene

Promoters and enhancers for C22orf23 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
GH22J037952 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -132 2.8 ZBTB40 SIN3A NRF1 POLR2G POLR2A ZBTB26 SAP30 RFX1 MYC EP300 C22orf23 POLR2F SOX10 RNU6-900P H1-0 GCAT RF00017-3834
GH22J037107 Enhancer 0.6 ENCODE 5.1 +845.5 845481 0.6 NCOR1 SKI SMAD4 ZNF3 HNF4A KDM1A TFAP4 ARID4B SOX5 GATAD2A TMPRSS6 C22orf23 NONHSAG033855.2
GH22J037951 Enhancer 0.5 ENCODE 0.7 +2.3 2274 0.5 CREB1 ZNF335 CTCF RAD21 ATF1 CREM PHF20 ZNF384 E2F1 MTA1 POLR2F ENSG00000272582 SOX10 RNU6-900P H1-0 GCAT RF00017-3834 C22orf23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C22orf23 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C22orf23

Top Transcription factor binding sites by QIAGEN in the C22orf23 gene promoter:
  • AML1a
  • c-Ets-1
  • E47
  • Hand1
  • HTF
  • NF-kappaB
  • SRF
  • SRF (504 AA)

Genomic Locations for C22orf23 Gene

Genomic Locations for C22orf23 Gene
chr22:37,943,050-37,953,669
(GRCh38/hg38)
Size:
10,620 bases
Orientation:
Minus strand
chr22:38,339,057-38,349,676
(GRCh37/hg19)
Size:
10,620 bases
Orientation:
Minus strand

Genomic View for C22orf23 Gene

Genes around C22orf23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C22orf23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C22orf23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C22orf23 Gene

Proteins for C22orf23 Gene

  • Protein details for C22orf23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZE7-EVG1_HUMAN
    Recommended name:
    UPF0193 protein EVG1
    Protein Accession:
    Q9BZE7
    Secondary Accessions:
    • Q5JYU9
    • Q96M68

    Protein attributes for C22orf23 Gene

    Size:
    217 amino acids
    Molecular mass:
    24956 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C22orf23 Gene

Post-translational modifications for C22orf23 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C22orf23 Gene

Domains & Families for C22orf23 Gene

Gene Families for C22orf23 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C22orf23 Gene

Blocks:
  • Protein of unknown function UPF0193
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C22orf23 Gene

GenScript: Design optimal peptide antigens:
  • UPF0193 protein EVG1 (EVG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZE7

UniProtKB/Swiss-Prot:

EVG1_HUMAN :
  • Belongs to the UPF0193 (EVG1) family.
Family:
  • Belongs to the UPF0193 (EVG1) family.
genes like me logo Genes that share domains with C22orf23: view

Function for C22orf23 Gene

Phenotypes From GWAS Catalog for C22orf23 Gene

Gene Ontology (GO) - Molecular Function for C22orf23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C22orf23: view
genes like me logo Genes that share phenotypes with C22orf23: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C22orf23

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C22orf23 Gene

Localization for C22orf23 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 C22orf23 gene
Compartment Confidence
nucleus 2
plasma membrane 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C22orf23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with C22orf23: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C22orf23 Gene

Pathways & Interactions for C22orf23 Gene

PathCards logo

SuperPathways for C22orf23 Gene

No Data Available

Interacting Proteins for C22orf23 Gene

;

Gene Ontology (GO) - Biological Process for C22orf23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C22orf23: view

No data available for Pathways by source and SIGNOR curated interactions for C22orf23 Gene

Drugs & Compounds for C22orf23 Gene

No Compound Related Data Available

Transcripts for C22orf23 Gene

mRNA/cDNA for C22orf23 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C22orf23

Alternative Splicing Database (ASD) splice patterns (SP) for C22orf23 Gene

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

Relevant External Links for C22orf23 Gene

GeneLoc Exon Structure for
C22orf23

Expression for C22orf23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C22orf23 Gene

mRNA differential expression in normal tissues according to GTEx for C22orf23 Gene

This gene is overexpressed in Testis (x11.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C22orf23

SOURCE GeneReport for Unigene cluster for C22orf23 Gene:

Hs.517612
genes like me logo Genes that share expression patterns with C22orf23: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C22orf23 Gene

Orthologs for C22orf23 Gene

This gene was present in the common ancestor of animals.

Orthologs for C22orf23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C22H22orf23 30
  • 99.08 (n)
C22orf23 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10H22orf23 30
  • 88.46 (n)
C22orf23 31
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H22orf23 30
  • 87.56 (n)
C22orf23 31
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1359634 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia 1700088E04Rik 17 31 30
  • 81.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C22orf23 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H22ORF23 30
  • 62.37 (n)
C22orf23 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C22orf23 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485066 30
  • 56.76 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-43k4.3 30
  • 53.93 (n)
C6H22orf23 31
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5280 31
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Species where no ortholog for C22orf23 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)
  • 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 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 C22orf23 Gene

ENSEMBL:
Gene Tree for C22orf23 (if available)
TreeFam:
Gene Tree for C22orf23 (if available)

Paralogs for C22orf23 Gene

No data available for Paralogs for C22orf23 Gene

Variants for C22orf23 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C22orf23 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs35562630 - p.Met136Leu

Additional dbSNP identifiers (rs#s) for C22orf23 Gene

Structural Variations from Database of Genomic Variants (DGV) for C22orf23 Gene

Variant ID Type Subtype PubMed ID
dgv830e199 CNV deletion 23128226
esv3575479 CNV gain 25503493
esv3647722 CNV loss 21293372

Variation tolerance for C22orf23 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C22orf23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C22orf23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C22orf23 Gene

Disorders for C22orf23 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C22orf23 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 12
  • hld12
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C22orf23

genes like me logo Genes that share disorders with C22orf23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C22orf23 Gene

Publications for C22orf23 Gene

  1. Experimental annotation of the human genome using microarray technology. (PMID: 11237012) Shoemaker DD … Boguski MS (Nature 2001) 2 3 4 54
  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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for C22orf23 Gene

Sources for C22orf23 Gene