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    OLIG2 oligodendrocyte transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 10215, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OLIG2provided by HGNC
    Official Full Name
    oligodendrocyte transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:9398
    See related
    Ensembl:ENSG00000205927 MIM:606386; AllianceGenome:HGNC:9398
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BHLHB1; OLIGO2; RACK17; PRKCBP2; bHLHe19
    Summary
    This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 29.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See OLIG2 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33025935..33029185)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31394108..31397358)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34398243..34401493)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377136 Neighboring gene VISTA enhancer hs1188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18366 Neighboring gene long intergenic non-protein coding RNA 1690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34398072-34398974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34405338-34406006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34406007-34406674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34408273-34408826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34408827-34409379 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:34414306-34415505 Neighboring gene long intergenic non-protein coding RNA 945 Neighboring gene oligodendrocyte transcription factor 1

    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 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. Risk variant of oligodendrocyte lineage transcription factor 2 is associated with reduced white matter integrity. Prata DP, et al. Hum Brain Mapp, 2013 Sep. PMID 22505278, Free PMC Article
    2. OLIG2 gene polymorphisms are associated with nasty, unpleasant and uncontrollable thoughts in obsessive-compulsive disorder. Vieira-Fonseca T, et al. J Clin Neurosci, 2019 Dec. PMID 31431405
    3. OLIG2 is a marker of the fusion protein-driven neurodevelopmental transcriptional signature in alveolar rhabdomyosarcoma. Raghavan SS, et al. Hum Pathol, 2019 Sep. PMID 31299267
    4. Variants of the OLIG2 Gene are Associated with Cerebral Palsy in Chinese Han Infants with Hypoxic-Ischemic Encephalopathy. Sun L, et al. Neuromolecular Med, 2019 Mar. PMID 30178266
    5. The oligodendrocyte lineage transcription factor 2 (OLIG2) is epigenetically regulated in acute myeloid leukemia. Yalcin A, et al. Exp Hematol, 2017 Nov. PMID 28760688

    See all (101) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking.
      Title: OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking.
    2. OLIG2 expression level could be used as an independent prognostic factor for patients with cerebellar Glioblastoma (cGBM).
      Title: OLIG2 expression level could be used as an independent prognostic factor for patients with cerebellar Glioblastoma (cGBM).
    3. Identifying an oligodendrocyte enhancer that regulates Olig2 expression.
      Title: Identifying an oligodendrocyte enhancer that regulates Olig2 expression.
    4. OLIG2 Is a Determinant for the Relapse of MYC-Amplified Medulloblastoma.
      Title: OLIG2 Is a Determinant for the Relapse of MYC-Amplified Medulloblastoma.
    5. Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder.
      Title: Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder.
    6. Isocitrate Dehydrogenase Mutations Are Associated with Different Expression and DNA Methylation Patterns of OLIG2 in Adult Gliomas.
      Title: Isocitrate Dehydrogenase Mutations Are Associated with Different Expression and DNA Methylation Patterns of OLIG2 in Adult Gliomas.
    7. The Epigenetic Regulation of OLIG2 by Histone Demethylase KDM6B in Glioma Cells.
      Title: The Epigenetic Regulation of OLIG2 by Histone Demethylase KDM6B in Glioma Cells.
    8. One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.
      Title: One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.
    9. Can oligodendrocyte transcriptional factor-2 (Olig2) be used as an alternative for 1p/19q co-deletions to distinguish oligodendrogliomas from other glial neoplasms?
      Title: Can oligodendrocyte transcriptional factor-2 (Olig2) be used as an alternative for 1p/19q co-deletions to distinguish oligodendrogliomas from other glial neoplasms?
    10. Profiling Glioblastoma Cases with an Expression of DCX, OLIG2 and NES.
      Title: Profiling Glioblastoma Cases with an Expression of DCX, OLIG2 and NES.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables E-box binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spinal cord motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spinal cord oligodendrocyte cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thalamus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    oligodendrocyte transcription factor 2
    Names
    basic domain, helix-loop-helix protein, class B, 1
    class B basic helix-loop-helix protein 1
    class E basic helix-loop-helix protein 19
    human protein kinase C-binding protein RACK17
    oligodendrocyte lineage transcription factor 2
    oligodendrocyte-specific bHLH transcription factor 2
    protein kinase C-binding protein 2

    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.

    Genomic

    1. NG_011834.1 RefSeqGene

      Range
      5005..8255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005806.4 → NP_005797.1  oligodendrocyte transcription factor 2

      See identical proteins and their annotated locations for NP_005797.1

      Status: REVIEWED

      Source sequence(s)
      AF221520, BC047511
      Consensus CDS
      CCDS13620.1
      UniProtKB/Swiss-Prot
      B3KRF3, Q05BP9, Q13516, Q49AL3, Q86X04, Q9NZ14
      Related
      ENSP00000371794.3, ENST00000382357.4
      Conserved Domains (1) summary
      cd18940
      Location:95 → 179
      bHLH_TS_OLIG2; basic helix-loop-helix (bHLH) domain found in oligodendrocyte transcription factor 2 (Oligo2) and similar proteins

    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
      33025935..33029185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260908.2 → XP_005260965.1  oligodendrocyte transcription factor 2 isoform X1

      See identical proteins and their annotated locations for XP_005260965.1

      UniProtKB/Swiss-Prot
      B3KRF3, Q05BP9, Q13516, Q49AL3, Q86X04, Q9NZ14
      Related
      ENSP00000331040.3, ENST00000333337.3
      Conserved Domains (1) summary
      cd18940
      Location:95 → 179
      bHLH_TS_OLIG2; basic helix-loop-helix (bHLH) domain found in oligodendrocyte transcription factor 2 (Oligo2) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31394108..31397358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324300.1 → XP_054180275.1  oligodendrocyte transcription factor 2 isoform X1

      UniProtKB/Swiss-Prot
      B3KRF3, Q05BP9, Q13516, Q49AL3, Q86X04, Q9NZ14
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13516.2 GenPept UniProtKB/Swiss-Prot:Q13516

    Gene LinkOut

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