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

Summary

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

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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).
Identifying an oligodendrocyte enhancer that regulates Olig2 expression.
Title: Identifying an oligodendrocyte enhancer that regulates Olig2 expression.
OLIG2 Is a Determinant for the Relapse of MYC-Amplified Medulloblastoma.
Title: OLIG2 Is a Determinant for the Relapse of MYC-Amplified Medulloblastoma.
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.
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.
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.
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.
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?
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 EBI GWAS CatalogPubMed

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

REN83522 (e-PCR)
- UniSTS:408320

REN83523 (e-PCR)
- UniSTS:408321

REN83524 (e-PCR)
- UniSTS:408322

REN83525 (e-PCR)
- UniSTS:408323

REN83526 (e-PCR)
- UniSTS:408324

REN83527 (e-PCR)
- UniSTS:408325

REN83528 (e-PCR)
- UniSTS:408326

REN83529 (e-PCR)
- UniSTS:408327

REN83530 (e-PCR)
- UniSTS:408328

REN83531 (e-PCR)
- UniSTS:408329

REN83532 (e-PCR)
- UniSTS:408330

REN83533 (e-PCR)
- UniSTS:408331

REN83534 (e-PCR)
- UniSTS:408332

REN83535 (e-PCR)
- UniSTS:408333

REN83536 (e-PCR)
- UniSTS:408334

REN83537 (e-PCR)
- UniSTS:408335

REN83538 (e-PCR)
- UniSTS:408336

REN83539 (e-PCR)
- UniSTS:408337

STS-U48250 (e-PCR)
- UniSTS:3389

ECD02127 (e-PCR)
- UniSTS:283228

ECD04720 (e-PCR)
- UniSTS:285791

ECD03739 (e-PCR)
- UniSTS:284819

D21S392 (e-PCR)
- UniSTS:147861

ECD02450 (e-PCR)
- UniSTS:283548

ECD07126 (e-PCR)
- UniSTS:288183

ECD12314 (e-PCR)
- UniSTS:293347

stSG606851 (e-PCR)
- UniSTS:446439

REN83516 (e-PCR)
- UniSTS:408314

REN83517 (e-PCR)
- UniSTS:408315

REN83518 (e-PCR)
- UniSTS:408316

REN83519 (e-PCR)
- UniSTS:408317

REN83520 (e-PCR)
- UniSTS:408318

REN83521 (e-PCR)
- UniSTS:408319

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

NG_011834.1 RefSeqGene

Range

5005..8255

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

33025935..33029185

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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