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Aliases for C21orf58 Gene

Aliases for C21orf58 Gene

  • Chromosome 21 Open Reading Frame 58 2 3 5
  • Uncharacterized Protein C21orf58 3

External Ids for C21orf58 Gene

Previous GeneCards Identifiers for C21orf58 Gene

  • GC21M044226
  • GC21M046576
  • GC21M046577
  • GC21M046545
  • GC21M047720
  • GC21M033104

Summaries for C21orf58 Gene

GeneCards Summary for C21orf58 Gene

C21orf58 (Chromosome 21 Open Reading Frame 58) is a Protein Coding gene.

Additional gene information for C21orf58 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 C21orf58 Gene

Genomics for C21orf58 Gene

GeneHancer (GH) Regulatory Elements for C21orf58 Gene

Promoters and enhancers for C21orf58 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
GH21J046319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.6 570 6.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PCNT C21orf58 ENSG00000228137 MCM3AP MCM3AP-AS1 ENSG00000227438 DIP2A SPATC1L YBEY COL6A1
GH21J046317 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 650.4 +5.5 5507 0.9 SIX4 USF1 SIN3A YBX1 BMI1 ZIC2 GLIS2 POLR2A RFX1 SP3 C21orf58 SPATC1L LSS MCM3AP-AS1 ENSG00000223901 ENSG00000228404 GC21P046292 GC21P046294
GH21J046252 Enhancer 0.9 ENCODE 12.1 +69.8 69830 2.2 HDGF PKNOX1 ARNT ZNF766 ATF7 RUNX3 SP3 NCOA1 ZNF592 SREBF1 ENSG00000239415 YBEY MCM3AP-AS1 LSS C21orf58 PCNT ENSG00000223901 FTCD DIP2A DIP2A-IT1
GH21J046348 Enhancer 0.5 dbSUPER 13.5 -30.3 -30290 12.1 CTCF ZFHX2 ZNF362 ZNF341 ZNF600 BCL11B YBEY MCM3AP DIP2A SPATC1L PCNT C21orf58 ENSG00000228137 GC21M046580 PIR36884
GH21J046442 Enhancer 0.6 dbSUPER 11.1 -119.5 -119545 1.7 STAT1 ZBTB6 BACH1 MAFG ZFHX2 ZNF316 NFE2 MAFK EMSY NFE2L2 S100B DIP2A PCNT C21orf58 SPATC1L MCM3AP-AS1 GC21M046494 RPL18AP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C21orf58 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C21orf58 gene promoter:

Genomic Locations for C21orf58 Gene

Genomic Locations for C21orf58 Gene
chr21:46,300,181-46,323,899
(GRCh38/hg38)
Size:
23,719 bases
Orientation:
Minus strand
chr21:47,720,095-47,743,789
(GRCh37/hg19)

Genomic View for C21orf58 Gene

Genes around C21orf58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf58 Gene

Proteins for C21orf58 Gene

  • Protein details for C21orf58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58505-CU058_HUMAN
    Recommended name:
    Uncharacterized protein C21orf58
    Protein Accession:
    P58505
    Secondary Accessions:
    • B3KPI1
    • Q8N7N9

    Protein attributes for C21orf58 Gene

    Size:
    322 amino acids
    Molecular mass:
    35003 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK72408.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK72409.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C21orf58 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C21orf58 Gene

Post-translational modifications for C21orf58 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C21orf58 Gene

Domains & Families for C21orf58 Gene

Gene Families for C21orf58 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C21orf58 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C21orf58 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C21orf58: view

No data available for UniProtKB/Swiss-Prot for C21orf58 Gene

Function for C21orf58 Gene

genes like me logo Genes that share phenotypes with C21orf58: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf58 Gene

Localization for C21orf58 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 C21orf58 gene
Compartment Confidence
nucleus 4
mitochondrion 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C21orf58 Gene

Pathways & Interactions for C21orf58 Gene

SuperPathways for C21orf58 Gene

No Data Available

Interacting Proteins for C21orf58 Gene

Selected Interacting proteins: P58505-CU058_HUMAN for C21orf58 Gene via IID

Gene Ontology (GO) - Biological Process for C21orf58 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C21orf58 Gene

Drugs & Compounds for C21orf58 Gene

No Compound Related Data Available

Transcripts for C21orf58 Gene

Unigene Clusters for C21orf58 Gene

Chromosome 21 open reading frame 58:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf58 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13
SP1: - - - - - - - - -
SP2: - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - -
SP8: - -
SP9:
SP10: - - -
SP11:

Relevant External Links for C21orf58 Gene

GeneLoc Exon Structure for
C21orf58
ECgene alternative splicing isoforms for
C21orf58

Expression for C21orf58 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C21orf58 Gene

mRNA differential expression in normal tissues according to GTEx for C21orf58 Gene

This gene is overexpressed in Pituitary (x7.6).

Protein differential expression in normal tissues from HIPED for C21orf58 Gene

This gene is overexpressed in Lung (38.1) and Colon muscle (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C21orf58 Gene



Protein tissue co-expression partners for C21orf58 Gene

NURSA nuclear receptor signaling pathways regulating expression of C21orf58 Gene:

C21orf58

SOURCE GeneReport for Unigene cluster for C21orf58 Gene:

Hs.236572

mRNA Expression by UniProt/SwissProt for C21orf58 Gene:

P58505-CU058_HUMAN
Tissue specificity: Expressed in skin and fetal lung.
genes like me logo Genes that share expression patterns with C21orf58: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C21orf58 Gene

Orthologs for C21orf58 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C21orf58 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf58 33
  • 99.38 (n)
C21orf58 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1H21orf58 33
  • 71.48 (n)
C21orf58 34
  • 46 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf58 33
  • 66.32 (n)
C21orf58 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf58 34
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2610028H24Rik 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves C21orf58 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C21orf58 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C6H21orf58 34
  • 39 (a)
OneToOne
Species where no ortholog for C21orf58 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for C21orf58 Gene

ENSEMBL:
Gene Tree for C21orf58 (if available)
TreeFam:
Gene Tree for C21orf58 (if available)

Paralogs for C21orf58 Gene

No data available for Paralogs for C21orf58 Gene

Variants for C21orf58 Gene

Sequence variations from dbSNP and Humsavar for C21orf58 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs138595914 benign, likely-benign, not specified, Microcephalic Osteodysplastic Primordial Dwarfism 46,324,213(-) G/A/T upstream_transcript_variant
rs202239640 uncertain-significance, Microcephalic Osteodysplastic Primordial Dwarfism 46,324,204(-) G/C upstream_transcript_variant
rs397802954 benign, uncertain-significance, Microcephalic Osteodysplastic Primordial Dwarfism 46,324,124(-) GGGGGG/GGGGG/GGGGGGG upstream_transcript_variant
rs747401688 uncertain-significance, Microcephalic Osteodysplastic Primordial Dwarfism 46,324,154(-) G/A upstream_transcript_variant
rs80017051 benign, likely-benign, not specified, Microcephalic Osteodysplastic Primordial Dwarfism 46,324,288(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C21orf58 Gene

Variant ID Type Subtype PubMed ID
nsv1060978 CNV gain 25217958
nsv1139038 CNV deletion 24896259
nsv3547 CNV insertion 18451855
nsv470910 CNV gain 18288195
nsv519904 CNV loss 19592680
nsv527355 CNV gain 19592680
nsv587975 CNV gain 21841781
nsv587980 CNV loss 21841781

Variation tolerance for C21orf58 Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.77; 94.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C21orf58 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C21orf58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf58 Gene

Disorders for C21orf58 Gene

Additional Disease Information for C21orf58

No disorders were found for C21orf58 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C21orf58 Gene

Publications for C21orf58 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A … Antonarakis SE (Genomics 2001) 3 4 58
  3. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PMID: 18624398) Wang J … He F (Journal of proteome research 2008) 3 58

Products for C21orf58 Gene

Sources for C21orf58 Gene

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