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Aliases for C21orf62 Gene

Aliases for C21orf62 Gene

  • Chromosome 21 Open Reading Frame 62 2 3 5
  • C21orf120 3 4
  • B37 3 4
  • Chromosome 21 Open Reading Frame 120 2
  • Uncharacterized Protein C21orf62 3
  • PRED81 3

External Ids for C21orf62 Gene

Previous HGNC Symbols for C21orf62 Gene

  • C21orf120

Previous GeneCards Identifiers for C21orf62 Gene

  • GC21M030743
  • GC21M033086
  • GC21M033087
  • GC21M034163
  • GC21M019572

Summaries for C21orf62 Gene

GeneCards Summary for C21orf62 Gene

C21orf62 (Chromosome 21 Open Reading Frame 62) is a Protein Coding gene.

Additional gene information for C21orf62 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 C21orf62 Gene

Genomics for C21orf62 Gene

GeneHancer (GH) Regulatory Elements for C21orf62 Gene

Promoters and enhancers for C21orf62 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
GH21J032813 Promoter 0.6 EPDnew 650.7 +0.5 475 0.1 RFX1 C21orf62 ENSG00000279690 C21orf62-AS1
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.8 +42.8 42828 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 SON TMEM50B DONSON CFAP298 MIS18A EVA1C URB1 GART
GH21J032940 Enhancer 0.6 ENCODE 10.7 -126.4 -126427 0.2 CTCF ZNF654 L3MBTL2 REST ZBTB8A RAD21 ZNF239 ZNF26 SMC3 ZNF143 PAXBP1 TMEM50B LINC01548 C21orf62 SON LINC01690 GC21P032918 ENSG00000227757
GH21J032809 Enhancer 0.5 ENCODE 5.3 +5.6 5565 0.3 OSR2 ZFP69B PRDM6 KLF8 PAXBP1 C21orf62-AS1 C21orf62 ENSG00000279690
GH21J032810 Enhancer 0.4 FANTOM5 4.6 +4.5 4532 0.4 ZNF366 ZNF512 C21orf62-AS1 PAXBP1 C21orf62 OLIG1 ENSG00000279690
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C21orf62 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C21orf62 gene promoter:
  • Hand1
  • E47
  • MyoD
  • FOXL1
  • HOXA3
  • HFH-3
  • FOXI1
  • TGIF
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for C21orf62 Gene

Genomic Locations for C21orf62 Gene
chr21:32,790,673-32,814,181
(GRCh38/hg38)
Size:
23,509 bases
Orientation:
Minus strand
chr21:34,162,984-34,186,053
(GRCh37/hg19)
Size:
23,070 bases
Orientation:
Minus strand

Genomic View for C21orf62 Gene

Genes around C21orf62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf62 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf62 Gene

Proteins for C21orf62 Gene

  • Protein details for C21orf62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYP8-CU062_HUMAN
    Recommended name:
    Uncharacterized protein C21orf62
    Protein Accession:
    Q9NYP8
    Secondary Accessions:
    • A8K4L8

    Protein attributes for C21orf62 Gene

    Size:
    219 amino acids
    Molecular mass:
    24886 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF72946.1; Type=Frameshift; Positions=181; Evidence={ECO:0000305};

neXtProt entry for C21orf62 Gene

Post-translational modifications for C21orf62 Gene

  • Glycosylation at posLast=188188, posLast=9595, and posLast=2929
  • Modification sites at PhosphoSitePlus

Other Protein References for C21orf62 Gene

No data available for DME Specific Peptides for C21orf62 Gene

Domains & Families for C21orf62 Gene

Gene Families for C21orf62 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for C21orf62 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C21orf62 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C21orf62: view

No data available for UniProtKB/Swiss-Prot for C21orf62 Gene

Function for C21orf62 Gene

Gene Ontology (GO) - Molecular Function for C21orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with C21orf62: view
genes like me logo Genes that share phenotypes with C21orf62: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf62 Gene

Localization for C21orf62 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 C21orf62 gene
Compartment Confidence
extracellular 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C21orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with C21orf62: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for C21orf62 Gene

Pathways & Interactions for C21orf62 Gene

SuperPathways for C21orf62 Gene

No Data Available

Interacting Proteins for C21orf62 Gene

Gene Ontology (GO) - Biological Process for C21orf62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C21orf62: view

No data available for Pathways by source and SIGNOR curated interactions for C21orf62 Gene

Drugs & Compounds for C21orf62 Gene

No Compound Related Data Available

Transcripts for C21orf62 Gene

mRNA/cDNA for C21orf62 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C21orf62 Gene

Chromosome 21 open reading frame 62:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf62 Gene

No ASD Table

Relevant External Links for C21orf62 Gene

GeneLoc Exon Structure for
C21orf62
ECgene alternative splicing isoforms for
C21orf62

Expression for C21orf62 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C21orf62 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C21orf62 Gene

This gene is overexpressed in Pituitary (x10.5), Ovary (x9.1), Kidney - Cortex (x4.4), and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for C21orf62 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C21orf62 Gene



Protein tissue co-expression partners for C21orf62 Gene

NURSA nuclear receptor signaling pathways regulating expression of C21orf62 Gene:

C21orf62

SOURCE GeneReport for Unigene cluster for C21orf62 Gene:

Hs.517235
genes like me logo Genes that share expression patterns with C21orf62: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C21orf62 Gene

Orthologs for C21orf62 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C21orf62 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf62 33
  • 98.78 (n)
C21orf62 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1H21orf62 33
  • 84.86 (n)
C21orf62 34
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf62 34 33
  • 84.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia 4932438H23Rik 16 34 33
  • 79.4 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562726 33
  • 78.67 (n)
oppossum
(Monodelphis domestica)
Mammalia C21orf62 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H21ORF62 33
  • 63.51 (n)
C21orf62 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C21orf62 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf62 33
  • 59.08 (n)
Species where no ortholog for C21orf62 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C21orf62 Gene

ENSEMBL:
Gene Tree for C21orf62 (if available)
TreeFam:
Gene Tree for C21orf62 (if available)

Paralogs for C21orf62 Gene

No data available for Paralogs for C21orf62 Gene

Variants for C21orf62 Gene

Sequence variations from dbSNP and Humsavar for C21orf62 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000060357 -- 32,810,501(-) T/C intron_variant
rs1000102137 -- 32,795,026(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000155007 -- 32,809,835(-) G/A intron_variant
rs1000252370 -- 32,809,324(-) C/A intron_variant
rs1000303408 -- 32,813,739(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for C21orf62 Gene

Variant ID Type Subtype PubMed ID
esv3646895 CNV loss 21293372
nsv473538 CNV novel sequence insertion 20440878
nsv481301 CNV novel sequence insertion 20440878
nsv509793 CNV insertion 20534489
nsv834086 CNV loss 17160897

Variation tolerance for C21orf62 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C21orf62 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C21orf62

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf62 Gene

Disorders for C21orf62 Gene

Additional Disease Information for C21orf62

No disorders were found for C21orf62 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C21orf62 Gene

Publications for C21orf62 Gene

  1. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PMID: 10773462) Slavov D … Gardiner K (Gene 2000) 3 4 58
  2. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PMID: 20494980) Warnatz HJ … Yaspo ML (Nucleic acids research 2010) 3 58
  3. Genome-wide association of serum bilirubin levels in Korean population. (PMID: 20639394) Kang TW … Kim YS (Human molecular genetics 2010) 3 58
  4. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PMID: 17567994) Denoeud F … Reymond A (Genome research 2007) 3 58
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox CS … Atwood LD (BMC medical genetics 2007) 44 58

Products for C21orf62 Gene

Sources for C21orf62 Gene

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