OLIG2

oligodendrocyte transcription factor 2, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 21:33025934-33029196

Previous symbols: [ "PRKCBP2", "BHLHB1" ]

Links

ENSG00000205927 ∙ NCBI:10215 ∙ OMIM:606386 ∙ HGNC:9398 ∙ Uniprot:Q13516 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OLIG2 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLIG2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in OLIG2

This is a list of pathogenic ClinVar variants found in the OLIG2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-33026915-A-C		not specified	Uncertain significance (Aug 12, 2022)
21-33027001-T-C		not specified	Uncertain significance (Nov 14, 2023)
21-33027194-T-G		not specified	Uncertain significance (Oct 30, 2023)
21-33027211-G-A		Inborn genetic diseases	Uncertain significance (Nov 03, 2017)
21-33027261-G-T		not specified	Uncertain significance (Jan 03, 2024)
21-33027461-C-G		not specified	Uncertain significance (Dec 01, 2022)
21-33027532-C-T		not specified	Uncertain significance (Jul 30, 2023)
21-33027634-C-T		not specified	Uncertain significance (Aug 16, 2021)
21-33027694-G-A		not specified	Uncertain significance (May 25, 2022)
21-33027730-G-T		not specified	Uncertain significance (Nov 18, 2022)
21-33027803-G-C		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OLIG2	protein_coding	protein_coding	ENST00000333337	1	3352

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0946	0.780	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	87	143	0.609	0.00000657	2032
Missense in Polyphen		13	50.564	0.2571		537
Synonymous	-1.10	77	65.7	1.17	0.00000327	718
Loss of Function	1.16	2	4.73	0.423	2.02e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Functions together with ZNF488 to promote oligodendrocyte differentiation. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development. {ECO:0000250|UniProtKB:Q9EQW6}.
• Disease: DISEASE: Note=A chromosomal aberration involving OLIG2 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(14;21)(q11.2;q22) with TCRA. {ECO:0000269|PubMed:10737801}.
• Pathway: Neural Crest Differentiation (Consensus)

Recessive Scores

• pRec: 0.360

Haploinsufficiency Scores

• pHI: 0.576
• hipred: Y
• hipred_score: 0.577
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.854

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Olig2
• Phenotype: cellular phenotype; muscle phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm

Zebrafish Information Network

• Gene name: olig2
• Affected structure: dopaminergic neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;spinal cord motor neuron differentiation;spinal cord oligodendrocyte cell fate specification;thalamus development;myelination;negative regulation of neuron differentiation;neuron fate commitment;positive regulation of oligodendrocyte differentiation
• Cellular component: nucleus;cytoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein homodimerization activity;HMG box domain binding