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    C21orf91 chromosome 21 open reading frame 91 [ Homo sapiens (human) ]

    Gene ID: 54149, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C21orf91provided by HGNC
    Official Full Name
    chromosome 21 open reading frame 91provided by HGNC
    Primary source
    HGNC:HGNC:16459
    See related
    Ensembl:ENSG00000154642 AllianceGenome:HGNC:16459
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EURL; YG81; CSSG1; BTG3-7:1; C21orf14; C21orf38
    Summary
    Predicted to be involved in cerebral cortex neuron differentiation and positive regulation of dendritic spine development. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 10.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C21orf91 in Genome Data Viewer
    Location:
    21q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (17788974..17819356, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (16148342..16178714, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (19161291..19191673, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene CXADR Ig-like cell adhesion molecule Neighboring gene BTG3 antisense RNA 1 Neighboring gene BTG anti-proliferation factor 3 Neighboring gene uncharacterized LOC124904999 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:19038958-19040157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:19060700-19061602 Neighboring gene uncharacterized LOC124900465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18294 Neighboring gene C21orf91 overlapping transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18301 Neighboring gene CHODL antisense RNA 1 Neighboring gene ribosomal protein L37 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. C21orf91 Regulates Oligodendroglial Precursor Cell Fate-A Switch in the Glial Lineage? Reiche L, et al. Front Cell Neurosci, 2021. PMID 33796011, Free PMC Article
    2. C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene. Kriesel JD, et al. J Infect Dis, 2011 Dec 1. PMID 22039568, Free PMC Article
    3. Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Polubothu S, et al. Genet Med, 2021 Sep. PMID 34145395, Free PMC Article
    4. Isolation of a novel cDNA enriched in the undifferentiated chick retina and lens. Godbout R, et al. Dev Dyn, 2003 Jul. PMID 12815627
    5. The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome. Li SS, et al. Sci Rep, 2016 Jul 11. PMID 27404227, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EURL is an important new player in neuronal development that is likely to impact on the neuropathogenesis of HSA21-related disorders including Down Syndrome.
      Title: The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome.
    2. Two complementary techniques identified C21orf91 as a gene of interest for susceptibility to herpes simplex labialis.
      Title: C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.
    3. Authors demonstrate that human AL109761 is in fact the human ortholog of chicken EURL (GeneID: 395489)
      Title: Isolation of a novel cDNA enriched in the undifferentiated chick retina and lens.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp781D1223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of dendritic spine development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein EURL homolog
    Names
    cold sore susceptibility gene 1
    early undifferentiated retina and lens

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100420.2 → NP_001093890.1  protein EURL homolog isoform 1

      See identical proteins and their annotated locations for NP_001093890.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK023825, AL109761, BF739854, CR749496, DA215855, DB066982
      Consensus CDS
      CCDS42907.1
      UniProtKB/Swiss-Prot
      B2RB30, Q96BK9, Q9H8C6, Q9NYK6
      Related
      ENSP00000284881.4, ENST00000284881.9
      Conserved Domains (1) summary
      pfam06937
      Location:1 → 291
      EURL; EURL protein

    2. NM_001100421.2 → NP_001093891.1  protein EURL homolog isoform 3

      See identical proteins and their annotated locations for NP_001093891.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, compared to variant 1. The resulting isoform (3) is C-terminal truncated, compared to isoform 1.
      Source sequence(s)
      AF239726, AL109761, BF739854, CR749496, DA215855
      Consensus CDS
      CCDS42909.1
      UniProtKB/TrEMBL
      E7ETB0
      Related
      ENSP00000383403.3, ENST00000400558.7
      Conserved Domains (1) summary
      pfam06937
      Location:1 → 221
      EURL; EURL protein

    3. NM_017447.4 → NP_059143.3  protein EURL homolog isoform 2

      See identical proteins and their annotated locations for NP_059143.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
      Source sequence(s)
      AL109761, BC015468, BF739854, CR749496, DA215855
      Consensus CDS
      CCDS42908.1
      UniProtKB/TrEMBL
      E7ETB0
      Related
      ENSP00000383404.3, ENST00000400559.7
      Conserved Domains (1) summary
      pfam06937
      Location:1 → 290
      EURL; EURL protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      17788974..17819356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      16148342..16178714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYK6.3 GenPept UniProtKB/Swiss-Prot:Q9NYK6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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