Aliases for C22orf39 Gene

Aliases for C22orf39 Gene

  • Chromosome 22 Open Reading Frame 39 2 3 5
  • UPF0545 Protein C22orf39 3 4
  • C22orf39 5
  • MGC74441 2

External Ids for C22orf39 Gene

Previous GeneCards Identifiers for C22orf39 Gene

  • GC22M017808
  • GC22M019428
  • GC22M003049

Summaries for C22orf39 Gene

GeneCards Summary for C22orf39 Gene

C22orf39 (Chromosome 22 Open Reading Frame 39) is a Protein Coding gene. Diseases associated with C22orf39 include Trichuriasis.

Additional gene information for C22orf39 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 C22orf39 Gene

Genomics for C22orf39 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C22orf39 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
GH22J019446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 10 3.4 MXD4 SP1 FEZF1 NR2C1 MNT IKZF1 SMAD5 MBD2 POLR2A ZBTB7B C22orf39 ENSG00000185065 HIRA LOC105372860 DGCR8 TRMT2A UFD1 LINC01311 RPL8P5 RPL7AP70
GH22J019441 Promoter 0.6 EPDnew 250.4 +6.1 6129 0.1 ZMYM3 KDM1A BCOR ZNF121 PML piR-49902 C22orf39 HSALNG0134022 HSALNG0134023 HIRA MRPL40
GH22J019396 Enhancer 1.1 ENCODE dbSUPER 12.2 +50.0 50026 2.1 IKZF1 SMAD5 IRF2 MBD2 BHLHE40 NONO ARNT NFATC3 ZNF740 HCFC1 TRMT2A DGCR8 LINC01311 UFD1 RPL8P5 ENSG00000273300 ESS2 RANBP1 HIRA C22orf39
GH22J019213 Enhancer 0.7 Ensembl ENCODE 12.1 +233.6 233610 1.8 MNT ZIC2 RAD51 NRF1 EP400 USF2 PYGO2 ATF1 DACH1 CBFA2T2 CLTCL1 C22orf39 ENSG00000185065 HIRA SLC25A1 HSALNG0134011 HSALNG0134012
GH22J019405 Promoter 0.4 EPDnew 12.6 +41.9 41874 0.1 HNRNPUL1 HIRA UFD1 RPL7AP70 C22orf39 ENSG00000185065 DGCR11 CDC45 lnc-MRPL40-2 HSALNG0134018 MRPL40
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C22orf39 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C22orf39

Top Transcription factor binding sites by QIAGEN in the C22orf39 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • Elk-1
  • GATA-1
  • Ik-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for C22orf39 Gene

Latest Assembly
chr22:19,351,368-19,447,711
(GRCh38/hg38)
Size:
96,344 bases
Orientation:
Minus strand

Previous Assembly
chr22:19,428,409-19,435,234
(GRCh37/hg19 by Entrez Gene)
Size:
6,826 bases
Orientation:
Minus strand

chr22:19,338,891-19,435,755
(GRCh37/hg19 by Ensembl)
Size:
96,865 bases
Orientation:
Minus strand

Genomic View for C22orf39 Gene

Genes around C22orf39 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C22orf39 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C22orf39 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C22orf39 Gene

Proteins for C22orf39 Gene

  • Protein details for C22orf39 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P5X5-CV039_HUMAN
    Recommended name:
    UPF0545 protein C22orf39
    Protein Accession:
    Q6P5X5
    Secondary Accessions:
    • A8MTW6
    • D3DX18
    • F5H3A8
    • J3KNP9

    Protein attributes for C22orf39 Gene

    Size:
    142 amino acids
    Molecular mass:
    16805 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62599.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF82762.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAG30225.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAX03040.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for C22orf39 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C22orf39 Gene

Post-translational modifications for C22orf39 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C22orf39 Gene

No data available for DME Specific Peptides for C22orf39 Gene

Domains & Families for C22orf39 Gene

Gene Families for C22orf39 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C22orf39 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C22orf39 Gene

GenScript: Design optimal peptide antigens:
  • UPF0545 protein C22orf39 (CV039_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P5X5

UniProtKB/Swiss-Prot:

CV039_HUMAN :
  • Belongs to the UPF0545 family.
Family:
  • Belongs to the UPF0545 family.
genes like me logo Genes that share domains with C22orf39: view

Function for C22orf39 Gene

Phenotypes From GWAS Catalog for C22orf39 Gene

Gene Ontology (GO) - Molecular Function for C22orf39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C22orf39: view

Phenotypes for C22orf39 Gene

genes like me logo Genes that share phenotypes with C22orf39: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C22orf39

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C22orf39 Gene

Localization for C22orf39 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for C22orf39 Gene

Pathways & Interactions for C22orf39 Gene

PathCards logo

SuperPathways for C22orf39 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C22orf39 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C22orf39 Gene

Drugs & Compounds for C22orf39 Gene

No Compound Related Data Available

Transcripts for C22orf39 Gene

mRNA/cDNA for C22orf39 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 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 C22orf39

Alternative Splicing Database (ASD) splice patterns (SP) for C22orf39 Gene

No ASD Table

Relevant External Links for C22orf39 Gene

GeneLoc Exon Structure for
C22orf39

Expression for C22orf39 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C22orf39 Gene

mRNA differential expression in normal tissues according to GTEx for C22orf39 Gene

This gene is overexpressed in Muscle - Skeletal (x4.6).

Protein differential expression in normal tissues from HIPED for C22orf39 Gene

This gene is overexpressed in Pancreas (56.6) and Fetal ovary (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C22orf39 Gene



Protein tissue co-expression partners for C22orf39 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C22orf39

SOURCE GeneReport for Unigene cluster for C22orf39 Gene:

Hs.659565

Evidence on tissue expression from TISSUES for C22orf39 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with C22orf39: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C22orf39 Gene

Orthologs for C22orf39 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C22orf39 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C22H22orf39 30
  • 98.3 (n)
C22orf39 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C22orf39 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 2510002D24Rik 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C22orf39 31
  • 56 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C22orf39 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C22orf39 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C22orf39 31
  • 47 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii C8H22orf39 31
  • 44 (a)
OneToOne
Species where no ortholog for C22orf39 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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)

Evolution for C22orf39 Gene

ENSEMBL:
Gene Tree for C22orf39 (if available)
TreeFam:
Gene Tree for C22orf39 (if available)

Paralogs for C22orf39 Gene

(1) SIMAP similar genes for C22orf39 Gene using alignment to 2 proteins:

  • CV039_HUMAN
  • E0CX16_HUMAN
genes like me logo Genes that share paralogs with C22orf39: view

No data available for Paralogs for C22orf39 Gene

Variants for C22orf39 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C22orf39 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 C22orf39 Gene

Variant ID Type Subtype PubMed ID
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
nsv588216 CNV gain 21841781
nsv834124 CNV loss 17160897
nsv834127 CNV loss 17160897

Variation tolerance for C22orf39 Gene

Gene Damage Index Score: 1.63; 31.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C22orf39 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C22orf39

SNP Genotyping and Copy Number Assays for research

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 C22orf39 Gene

Disorders for C22orf39 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C22orf39 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
trichuriasis
  • infection by trichuris trichura
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C22orf39

genes like me logo Genes that share disorders with C22orf39: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C22orf39 Gene

Publications for C22orf39 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 genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for C22orf39 Gene

Sources for C22orf39 Gene