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Aliases for C21orf91 Gene

Aliases for C21orf91 Gene

  • Chromosome 21 Open Reading Frame 91 2 3 5
  • Early Undifferentiated Retina And Lens 2 3
  • Cold Sore Susceptibility Gene 1 2 3
  • C21orf14 3 4
  • C21orf38 3 4
  • EURL 3 4
  • YG81 3 4
  • Chromosome 21 Open Reading Frame 38 2
  • Protein EURL Homolog 3
  • CSSG1 3

External Ids for C21orf91 Gene

Previous HGNC Symbols for C21orf91 Gene

  • C21orf38
  • C21orf14

Previous GeneCards Identifiers for C21orf91 Gene

  • GC21M015826
  • GC21M018083
  • GC21M018086
  • GC21M019161
  • GC21M004550

Summaries for C21orf91 Gene

GeneCards Summary for C21orf91 Gene

C21orf91 (Chromosome 21 Open Reading Frame 91) is a Protein Coding gene. Diseases associated with C21orf91 include Staphyloenterotoxemia.

UniProtKB/Swiss-Prot for C21orf91 Gene

  • Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway.

Additional gene information for C21orf91 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf91 Gene

Genomics for C21orf91 Gene

GeneHancer (GH) Regulatory Elements for C21orf91 Gene

Promoters and enhancers for C21orf91 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
GH21I017817 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.1 79 4.2 CLOCK FOXA2 ARNT SIN3A DMAP1 IRF4 YY1 POLR2B ZNF207 ZNF143 CHODL C21orf91 C21orf91-OT1 ENSG00000244676
GH21I017779 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +35.6 35629 8.7 HDGF FOXA2 BMI1 BATF KLF5 IRF4 ZNF143 ATF7 ETV6 FOS C21orf91-OT1 C21orf91 BTG3 LOC105372741
GH21I017775 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +43.6 43624 1.3 ZNF687 FOXA2 KLF5 RELA POLR2A IKZF1 NBN ATF7 PRDM10 ETV6 C21orf91 LOC105372741 C21orf91-OT1
GH21I017798 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 2.1 +20.1 20064 1.7 ZBTB33 C21orf91-OT1 CHODL C21orf91 ENSG00000244676
GH21I017793 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.3 +24.5 24484 3.7 SOX13 FOXA2 JUN MAX CEBPG BATF RAD21 YY1 LCORL HNF4G ENSG00000244676 C21orf91-OT1 C21orf91
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C21orf91 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C21orf91 gene promoter:

Genomic Locations for C21orf91 Gene

Genomic Locations for C21orf91 Gene
chr21:17,788,967-17,819,386
(GRCh38/hg38)
Size:
30,420 bases
Orientation:
Minus strand
chr21:19,161,284-19,191,703
(GRCh37/hg19)

Genomic View for C21orf91 Gene

Genes around C21orf91 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf91 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf91 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf91 Gene

Proteins for C21orf91 Gene

  • Protein details for C21orf91 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYK6-EURL_HUMAN
    Recommended name:
    Protein EURL homolog
    Protein Accession:
    Q9NYK6
    Secondary Accessions:
    • B2RB30
    • Q96BK9
    • Q9H8C6

    Protein attributes for C21orf91 Gene

    Size:
    297 amino acids
    Molecular mass:
    33948 Da
    Quaternary structure:
    • Interacts with CCDC85B.
    SequenceCaution:
    • Sequence=BAB14691.1; Type=Erroneous termination; Positions=164; Note=Translated as Gln.; Evidence={ECO:0000305};

    Alternative splice isoforms for C21orf91 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C21orf91 Gene

Post-translational modifications for C21orf91 Gene

No Post-translational modifications

Other Protein References for C21orf91 Gene

No data available for DME Specific Peptides for C21orf91 Gene

Domains & Families for C21orf91 Gene

Gene Families for C21orf91 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C21orf91 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for C21orf91 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYK6

UniProtKB/Swiss-Prot:

EURL_HUMAN :
  • Belongs to the EURL family.
Family:
  • Belongs to the EURL family.
genes like me logo Genes that share domains with C21orf91: view

Function for C21orf91 Gene

Molecular function for C21orf91 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post-migratory cortical projection neurons by modulating the beta-catenin signaling pathway.
genes like me logo Genes that share phenotypes with C21orf91: view

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf91 Gene

Localization for C21orf91 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 C21orf91 gene
Compartment Confidence
cytoskeleton 2
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C21orf91 Gene

Pathways & Interactions for C21orf91 Gene

SuperPathways for C21orf91 Gene

No Data Available

Interacting Proteins for C21orf91 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000284881%0d%0a9606.ENSP00000367049%0d%0a9606.ENSP00000311695%0d%0a
Selected Interacting proteins: ENSP00000284881 Q9NYK6-EURL_HUMAN for C21orf91 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C21orf91 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021895 cerebral cortex neuron differentiation ISS --
GO:0030154 cell differentiation IEA --
GO:0060999 positive regulation of dendritic spine development ISS --
genes like me logo Genes that share ontologies with C21orf91: view

No data available for Pathways by source and SIGNOR curated interactions for C21orf91 Gene

Drugs & Compounds for C21orf91 Gene

No Compound Related Data Available

Transcripts for C21orf91 Gene

Unigene Clusters for C21orf91 Gene

Chromosome 21 open reading frame 91:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf91 Gene

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

Relevant External Links for C21orf91 Gene

GeneLoc Exon Structure for
C21orf91
ECgene alternative splicing isoforms for
C21orf91

Expression for C21orf91 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C21orf91 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C21orf91 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C21orf91 Gene



NURSA nuclear receptor signaling pathways regulating expression of C21orf91 Gene:

C21orf91

SOURCE GeneReport for Unigene cluster for C21orf91 Gene:

Hs.293811

mRNA Expression by UniProt/SwissProt for C21orf91 Gene:

Q9NYK6-EURL_HUMAN
Tissue specificity: Expressed in the brain (PubMed:27404227). Expressed in cortical cells of the germinal ventricular zone and the cortical plate. Underexpressed in the dorsolateral prefrontal cortex, primary visual cortex and cerebellar cortex compared with Down Syndrome patients (at protein level) (PubMed:27404227).

Evidence on tissue expression from TISSUES for C21orf91 Gene

  • Skin(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with C21orf91: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C21orf91 Gene

Orthologs for C21orf91 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C21orf91 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21orf91 34
  • 100 (a)
OneToOne
C21H21orf91 33
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia C31H21orf91 33
  • 92.48 (n)
C21orf91 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1H21orf91 33
  • 91.69 (n)
C1H21ORF91 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D16Ertd472e 33 16 34
  • 83.97 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563888 33
  • 83.68 (n)
oppossum
(Monodelphis domestica)
Mammalia C21orf91 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf91 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H21ORF91 33 34
  • 74 (n)
lizard
(Anolis carolinensis)
Reptilia C21orf91 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf91 33
  • 66.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5392 33
zebrafish
(Danio rerio)
Actinopterygii zgc:110006 33
  • 56.58 (n)
C10H21orf91 34
  • 53 (a)
OneToOne
Species where no ortholog for C21orf91 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for C21orf91 Gene

ENSEMBL:
Gene Tree for C21orf91 (if available)
TreeFam:
Gene Tree for C21orf91 (if available)

Paralogs for C21orf91 Gene

(2) SIMAP similar genes for C21orf91 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C21orf91: view

No data available for Paralogs for C21orf91 Gene

Variants for C21orf91 Gene

Sequence variations from dbSNP and Humsavar for C21orf91 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000002166 -- 17,799,410(-) T/C intron_variant
rs1000316211 -- 17,811,950(-) T/C intron_variant
rs1000348211 -- 17,792,743(-) T/C 3_prime_UTR_variant
rs1000593080 -- 17,806,794(-) C/T intron_variant
rs1000597309 -- 17,800,796(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C21orf91 Gene

Variant ID Type Subtype PubMed ID
dgv7768n54 CNV loss 21841781
esv3646486 CNV loss 21293372
nsv1059861 CNV loss 25217958
nsv834055 CNV gain 17160897
nsv953347 CNV duplication 24416366

Variation tolerance for C21orf91 Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.93; 87.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C21orf91 Gene

Human Gene Mutation Database (HGMD)
C21orf91
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C21orf91

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf91 Gene

Disorders for C21orf91 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C21orf91 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
staphyloenterotoxemia
  • staphylococcal food poisoning
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C21orf91

genes like me logo Genes that share disorders with C21orf91: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C21orf91 Gene

Publications for C21orf91 Gene

  1. The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome. (PMID: 27404227) Li SS … Heng JI (Scientific reports 2016) 2 3 4 58
  2. C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene. (PMID: 22039568) Kriesel JD … Hobbs MR (The Journal of infectious diseases 2011) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for C21orf91 Gene

Sources for C21orf91 Gene

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