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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
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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

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