OLIG2

gene
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Also known as RACK17OLIGO2bHLHe19

Summary

OLIG2 (oligodendrocyte transcription factor 2, HGNC:9398) is a protein-coding gene on chromosome 21q22.11, encoding Oligodendrocyte transcription factor 2 (Q13516). Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain.

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.

Source: NCBI Gene 10215 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 33 total
  • Transcription factor: yes — 21 downstream targets (CollecTRI)
  • MANE Select transcript: NM_005806

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9398
Approved symbolOLIG2
Nameoligodendrocyte transcription factor 2
Location21q22.11
Locus typegene with protein product
StatusApproved
AliasesRACK17, OLIGO2, bHLHe19
Ensembl geneENSG00000205927
Ensembl biotypeprotein_coding
OMIM606386
Entrez10215

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000333337, ENST00000382357, ENST00000430860, ENST00000877220, ENST00000877221, ENST00000960608

RefSeq mRNA: 1 — MANE Select: NM_005806 NM_005806

CCDS: CCDS13620

Canonical transcript exons

ENST00000382357 — 2 exons

ExonStartEnd
ENSE000014918333302680133029185
ENSE000014918423302593533026026

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 95.33.

FANTOM5 (CAGE): breadth broad, TPM avg 5.0320 / max 340.5692, expressed in 214 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1888325.0320214

Top tissues by expression

271 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
inferior vagus X ganglionUBERON:000536395.33gold quality
globus pallidusUBERON:000187593.59gold quality
medial globus pallidusUBERON:000247793.46gold quality
amygdalaUBERON:000187692.96gold quality
ventral tegmental areaUBERON:000269192.65gold quality
subthalamic nucleusUBERON:000190692.64gold quality
lateral globus pallidusUBERON:000247692.57gold quality
substantia nigraUBERON:000203892.43gold quality
midbrainUBERON:000189192.42gold quality
C1 segment of cervical spinal cordUBERON:000646991.71gold quality
spinal cordUBERON:000224091.64gold quality
Ammon’s hornUBERON:000195491.39gold quality
superior vestibular nucleusUBERON:000722791.08gold quality
putamenUBERON:000187491.00gold quality
dorsal plus ventral thalamusUBERON:000189790.84gold quality
middle frontal gyrusUBERON:000270290.83gold quality
temporal lobeUBERON:000187190.68gold quality
medulla oblongataUBERON:000189690.58gold quality
hypothalamusUBERON:000189890.50gold quality
substantia nigra pars compactaUBERON:000196590.30gold quality
substantia nigra pars reticulataUBERON:000196690.15gold quality
CA1 field of hippocampusUBERON:000388189.87gold quality
inferior olivary complexUBERON:000212789.71gold quality
endothelial cellCL:000011589.11gold quality
caudate nucleusUBERON:000187388.65gold quality
Brodmann (1909) area 9UBERON:001354088.43gold quality
postcentral gyrusUBERON:000258187.98gold quality
nucleus accumbensUBERON:000188287.94gold quality
entorhinal cortexUBERON:000272887.69gold quality
telencephalonUBERON:000189387.52gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-93593yes57.32
E-GEOD-84465yes26.83
E-ANND-3no1.31

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

21 targets.

TargetRegulation
ARHGAP8Repression
AURKAActivation
CCNB1Activation
CDC20Activation
CDC25CActivation
CDCA8Activation
CDKN1BActivation
CDKN2B
EPHA3Activation
EPHA5Activation
GFAPRepression
LGR5Unknown
NOTCH1
OLIG1Activation
OLIG2
PIM1Activation
RHOA
RNU2-1
SHH
SIGLEC8Activation
SOX10Activation

JASPAR motifs

MotifNameFamily
MA0678.1OLIG2Tal-related
MA1997.1Olig2Tal-related
MA1997.2Olig2Tal-related

JASPAR matrix evidence (PMIDs): PMID:20959288

Upstream regulators (CollecTRI, top): GLI2, NKX6-1, OLIG1, OLIG2, PAX6, PHOX2B, SMAD1, SMAD4, TCF12

miRNA regulators (miRDB)

60 targeting OLIG2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-656-3P100.0072.152788
HSA-MIR-12118100.0065.881270
HSA-MIR-150-5P99.9966.691976
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-3173-3P99.9866.491217
HSA-MIR-6891-5P99.9866.531372
HSA-MIR-569699.9872.364487
HSA-MIR-426799.9666.532368
HSA-MIR-590-3P99.9674.346478
HSA-MIR-185-3P99.9567.011743
HSA-MIR-218-5P99.9372.222103
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-568299.8972.561005
HSA-MIR-394199.8670.542735
HSA-MIR-444799.8567.812900
HSA-MIR-629-3P99.8567.991875
HSA-MIR-60999.8264.26505
HSA-MIR-6739-5P99.8067.872806
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-6733-5P99.7467.942759
HSA-MIR-548AU-3P99.7068.221373
HSA-MIR-472999.6972.184233
HSA-MIR-46699.6770.852863
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-211399.5871.221521
HSA-MIR-315399.5567.592337

Literature-anchored findings (GeneRIF, showing 40)

  • Analysis of 180 primary, metastatic, and non-neural human tumors shows OLIG2 is highly expressed in all diffuse gliomas. Immunohistochemistry and microarray analyses demonstrate higher OLIG2 in anaplastic oligodendrogliomas versus glioblastomas. (PMID:15198128)
  • Overexpression of OLIG2 was not only found in oligodendroglioma samples and normal neural tissue but also in a wide spectrum of malignant cell lines including leukemia, non-small cell lung carcinoma, melanoma, and breast cancer cell lines. (PMID:16103065)
  • Olig1 and Olig2 transcription factors in the human central nervous system are important not only for differentiation of the oligodendrocyte lineage, but they may also have a role in neural cell specification. (PMID:16267213)
  • Transcriptional regulation of transgenic Olig2 is involved in segregation of motoneuron precursor neuroblasts in the developing mouse spinal cord. (PMID:16469306)
  • A novel function of OLIG2 is to suppress glial tumor cell growth via cyclin-dependent kinase inhibitor p27. (PMID:16554441)
  • Findings show a general requirement for Olig2 function in glial cell development and highlight further roles for Olig transcription factors in neural progenitor cells. (PMID:16682644)
  • Data provide strong convergent evidence that variation in OLIG2 confers susceptibility to schizophrenia alone and as part of a network of genes implicated in oligodendrocyte function. (PMID:16891421)
  • Mutations in OLIG1 and OLIG2 are not likely to be associated with this subgroup of hypomyelinating disorders. (PMID:17171653)
  • OLIG2 expression was predominant over ID2 expression in oligodendroglial tumors, while ID2 expression was predominant over OLIG2 expression in astrocytic tumors. (PMID:17431671)
  • No significan correlation was found between proliferation index in pilocytic astrocytomas and Olig-2 expression. (PMID:17690840)
  • IL-13Ralpha2 and Olig2 have been identified and confirmed to be interesting candidate genes whose differential expression likely plays a role in malignant progression of astrocytomas (PMID:17917751)
  • absence of OLIG2 mutation in three PMLD patients presenting with a phenotype characterized by severe hypomyelination and motor neuron dysfunction (PMID:17918228)
  • The SNP rs762178 in OLIG2 seems to be a potential candidate in altering risk for schizophrenia in the Chinese Han population. (PMID:17934761)
  • OLIG2 suppresses the motile phenotype of glioblastoma cells by activating RhoA. (PMID:17951409)
  • We found that genetic polymorphisms in CNP (rs2070106) and OLIG2 (rs1059004 and (PMID:17964117)
  • analysis of Olig2 immunohistochemistry in microcystic areas might therefore be useful for the differential diagnosis of pilocytic astrocytoma and diffuse astrocytomas . (PMID:18312545)
  • Olig2-immunohistochemistry is useful and potentially more reliable than the epithelial membrane antigen-immunohistochemistry for the diagnosis of ependymoma (PMID:18552083)
  • Olig2-induced neural stem cell differentiation involves downregulation of Wnt pathway. (PMID:19093005)
  • Significant evidence for association of psychotic symptoms within cases was identified for two SNPs, rs762237 and rs2834072. (PMID:19477230)
  • transplantation of human neural stem cells genetically modified to express Olig2 transcription factor improved locomotor recovery and enhanced myelination in a rat contusive spinal cord injury model. (PMID:19772605)
  • 1p19q whole loss was also significantly associated with Olig2 overexpression, but was never observed in tumors overexpressing p53 protein in oligodendroglial tumors (PMID:20081802)
  • suggesting that OLIG2 function in pediatric gliomas is cell lineage dependent (PMID:21193945)
  • analysis of conserved and non-conserved functional elements at the Olig1 and Olig2 locus (PMID:21206754)
  • Olig2 expression is restricted to isolation and during membrane production of regenerating oligodendrocyte cultures isolated from white matter of medically intractable epilepsy patients. (PMID:21446039)
  • The Olig2 can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching. (PMID:21624811)
  • Nogo-A is more useful and specific than Olig-2 in differentiating oligodendrogliomas from other gliomas. (PMID:21835431)
  • OLIG2 over-expression inhibits neural progenitor proliferation through changes in potassium channel activity, thereby contributing to the reduced neuronal numbers and brain size in DS. (PMID:22343408)
  • We found that the risk allele OLIG2 (A) was associated with reduced white matter integrity in the corona radiata bilaterally (PMID:22505278)
  • Olig2-positive cells in glioneuronal tumors, and some of them also exhibited neuronal features (PMID:23025580)
  • Report role of OLIG2 immunostaining pattern in diagnosing rare and glioblastoma variants. (PMID:23041832)
  • This study review OLIG2 have developmental functions in patterning, neuron subtype specification and the formation of oligodendrocytes and play the role in the postnatal brain during repair processes and in neurological disease states. (PMID:23165259)
  • LGR5 expression may be functionally correlated with the neurogenic competence, and be regulated by OLIG2 in stem-like cells in glioblastoma. (PMID:23793848)
  • Authors investigated the role of Pten in these two critical cellular compartments in adult and developing brains using methods for activation or suppression of PI3K signaling in glial and neuronal progenitors expressing Olig2. (PMID:24395742)
  • Our study suggests that CGT expression is controlled by balanced expression of the negative modulator OLIG2 and positive regulator Nkx2.2, providing new insights into how expression of GalCer is tightly regulated in cell-type- and stage-specific manners. (PMID:24821492)
  • High Olig2 expression is associated with oligodendrogliomas. (PMID:25085214)
  • OLIG2 is the most specific GSC marker. (PMID:25384509)
  • The results demonstrate that the expression of Olig2 in dental pulp stem cells reduces the expression of stem cell markers and induces the development of oligodendrocyte progenitors. (PMID:25966902)
  • The present study is the first to verify the associations of SNPs rs762178, rs1059004, and rs9653711 of the OLIG2 gene with OCD in a Chinese Han population. Thus, OLIG2 might serve as a potential target for OCD treatment (PMID:26271930)
  • Olig2 was positive in 5 out of 44 ependymomas (11%) and 50 out of 54 (93%) non-ependymal tumors (PMID:26287936)
  • Olig2 was expressed in cord blood eosinophils on d 24, when cord blood eosinophils are considered fully differentiated, but no earlier. It was also expressed in human peripheral-blood eosinophils but not neutrophils, monocytes, lymphocytes, or cord blood mast cells. Many genes, including eosinophil surface molecules, were up-regulated along with OLIG2. OLIG2 shRNA or siRNA downregulated SIGLEC-8 mRNA and protein. (PMID:27154355)

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_rerioolig2ENSDARG00000040946
mus_musculusOlig2ENSMUSG00000039830
rattus_norvegicusOlig2ENSRNOG00000028658
drosophila_melanogasteramosFBGN0003270
drosophila_melanogasteratoFBGN0010433
drosophila_melanogastertapFBGN0015550
caenorhabditis_elegansWBGENE00003018
caenorhabditis_elegansWBGENE00003595

Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), NEUROG2 (ENSG00000178403), ATOH7 (ENSG00000179774), BHLHA15 (ENSG00000180535), BHLHE22 (ENSG00000180828), NEUROG1 (ENSG00000181965), OLIG1 (ENSG00000184221)

Protein

Protein identifiers

Oligodendrocyte transcription factor 2Q13516 (reviewed: Q13516)

Alternative names: Class B basic helix-loop-helix protein 1, Class E basic helix-loop-helix protein 19, Protein kinase C-binding protein 2, Protein kinase C-binding protein RACK17

All UniProt accessions (2): C9J444, Q13516

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with NKX2-2. Interacts with ZNF488.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in the brain, in oligodendrocytes. Strongly expressed in oligodendrogliomas, while expression is weak to moderate in astrocytomas. Expression in glioblastomas highly variable.

Disease relevance. 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.

Domain organisation. The bHLH is essential for interaction with NKX2-2.

Induction. By SHH. Also induced by NKX6-1 in the developing spinal cord, but not in the rostral hindbrain.

RefSeq proteins (1): NP_005797* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR011598bHLH_domDomain
IPR032658Olig2_bHLHDomain
IPR036638HLH_DNA-bd_sfHomologous_superfamily
IPR050359bHLH_transcription_factorsFamily

Pfam: PF00010

UniProt features (8 total): compositionally biased region 3, sequence conflict 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q13516-F161.310.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 181 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_POSITIVE_REGULATION_OF_GLIAL_CELL_DIFFERENTIATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_UP, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION

GO Biological Process (18): negative regulation of transcription by RNA polymerase II (GO:0000122), sensory organ development (GO:0007423), spinal cord motor neuron differentiation (GO:0021522), spinal cord oligodendrocyte cell fate specification (GO:0021530), thalamus development (GO:0021794), myelination (GO:0042552), negative regulation of neuron differentiation (GO:0045665), positive regulation of transcription by RNA polymerase II (GO:0045944), neuron fate commitment (GO:0048663), positive regulation of oligodendrocyte differentiation (GO:0048714), axon development (GO:0061564), regulation of DNA-templated transcription (GO:0006355), nervous system development (GO:0007399), spinal cord oligodendrocyte cell differentiation (GO:0021529), oligodendrocyte cell fate specification (GO:0021778), central nervous system neuron differentiation (GO:0021953), neuron differentiation (GO:0030182), oligodendrocyte differentiation (GO:0048709)

GO Molecular Function (9): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), identical protein binding (GO:0042802), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), HMG box domain binding (GO:0071837), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of transcription by RNA polymerase II3
neuron differentiation3
transcription by RNA polymerase II2
cell differentiation in spinal cord2
oligodendrocyte differentiation2
central nervous system development2
protein binding2
cellular anatomical structure2
negative regulation of DNA-templated transcription1
animal organ development1
ventral spinal cord development1
central nervous system neuron differentiation1
spinal cord oligodendrocyte cell differentiation1
oligodendrocyte cell fate specification1
diencephalon development1
anatomical structure development1
axon ensheathment1
negative regulation of cell differentiation1
regulation of neuron differentiation1
positive regulation of DNA-templated transcription1
cell fate commitment1
positive regulation of glial cell differentiation1
regulation of oligodendrocyte differentiation1
neuron projection development1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
system development1
oligodendrocyte cell fate commitment1
glial cell fate specification1
cell differentiation1
generation of neurons1
glial cell differentiation1
chromatin1
RNA polymerase II transcription regulatory region sequence-specific DNA binding1
DNA-binding transcription factor activity1
RNA polymerase II cis-regulatory region sequence-specific DNA binding1
protein domain specific binding1
double-stranded DNA binding1
sequence-specific DNA binding1

Protein interactions and networks

STRING

2492 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
OLIG2ID4P47928932
OLIG2GFAPP14136904
OLIG2CSPG4Q6UVK1897
OLIG2SOX10P56693875
OLIG2PAX6P26367868
OLIG2NKX2-2O95096856
OLIG2ID2Q02363855
OLIG2NESP48681837
OLIG2CNPP09543828
OLIG2MBPP02686827
OLIG2ISL1P20663816
OLIG2NEUROG2Q9H2A3813
OLIG2RBFOX3A6NFN3812
OLIG2PDGFRAP16234809
OLIG2SOX2P48431777

IntAct

22 interactions, top by confidence:

ABTypeScore
TXLNAOLIG2psi-mi:“MI:0915”(physical association)0.560
KRTAP12-4OLIG2psi-mi:“MI:0915”(physical association)0.560
OLIG2CUL3psi-mi:“MI:0915”(physical association)0.370
SMAD4OLIG2psi-mi:“MI:2364”(proximity)0.270
OLIG2EGFRpsi-mi:“MI:2364”(proximity)0.270
TXLNAOLIG2psi-mi:“MI:0915”(physical association)0.000
KRTAP12-4OLIG2psi-mi:“MI:0915”(physical association)0.000
OLIG2HEY1psi-mi:“MI:0915”(physical association)0.000
OLIG2LRRFIP1psi-mi:“MI:0915”(physical association)0.000
OLIG2MRFAP1L1psi-mi:“MI:0915”(physical association)0.000
OLIG2GOLGA3psi-mi:“MI:0915”(physical association)0.000
OLIG2EXOC7psi-mi:“MI:0915”(physical association)0.000
OLIG2CKAP5psi-mi:“MI:0915”(physical association)0.000
OLIG2NAP1L2psi-mi:“MI:0915”(physical association)0.000
OLIG2MCF2L2psi-mi:“MI:0915”(physical association)0.000
OLIG2PSMA3psi-mi:“MI:0915”(physical association)0.000

BioGRID (24): OLIG2 (Phenotypic Suppression), OLIG2 (Affinity Capture-Western), ID4 (Affinity Capture-Western), OLIG2 (Affinity Capture-Western), OLIG2 (Affinity Capture-Western), TCF3 (Affinity Capture-Western), OLIG2 (Two-hybrid), KRTAP12-4 (Two-hybrid), OLIG2 (Affinity Capture-RNA), OLIG2 (Reconstituted Complex), MRFAP1L1 (Two-hybrid), LRRFIP1 (Two-hybrid), NAP1L2 (Two-hybrid), HEY1 (Two-hybrid), CKAP5 (Two-hybrid)

ESM2 similar proteins: A3KMR8, A7Z017, D3ZNT6, O02754, O42290, O57342, O75444, O77215, O95409, P06601, P10734, P16376, P20264, P23091, P23758, P31361, P32027, P54366, P54841, P54842, P54843, P54844, P56224, Q04649, Q0V9K1, Q13516, Q24255, Q27350, Q2PFS4, Q4U1U2, Q504L8, Q61060, Q62520, Q63262, Q6DE84, Q789F3, Q8CF90, Q8NHW3, Q90370, Q90888

Diamond homologs: A8E5T6, B6VQA1, O09029, O09105, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O45489, O57598, O88940, O96004, O96642, P10627, P13903, P46581, P48985, P48986, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70447, P70562, P70595, P70660, P70661, P79765, P79766, P79782, P79920, P97832, Q08DI0, Q0V9X5

SIGNOR signaling

2 interactions.

AEffectBMechanism
OLIG1up-regulatesOLIG2
GLI2“up-regulates quantity”OLIG2“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

33 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance31
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

162 predictions. Top by Δscore:

VariantEffectΔscore
21:33026025:GA:Gdonor_gain0.9900
21:33026027:G:GGdonor_gain0.9900
21:33026769:A:AGacceptor_gain0.9900
21:33026770:T:Gacceptor_gain0.9900
21:33026795:T:Aacceptor_gain0.9900
21:33026796:G:Aacceptor_gain0.9900
21:33026799:A:AGacceptor_gain0.9900
21:33026800:G:GGacceptor_gain0.9900
21:33026796:GGAAG:Gacceptor_loss0.9800
21:33026797:GAAGT:Gacceptor_loss0.9800
21:33026798:AAG:Aacceptor_loss0.9800
21:33026799:AG:Aacceptor_loss0.9800
21:33026800:GTT:Gacceptor_gain0.9800
21:33026800:GTTT:Gacceptor_gain0.9800
21:33026182:A:AGacceptor_gain0.9700
21:33026800:GT:Gacceptor_gain0.9700
21:33026800:GTTTT:Gacceptor_gain0.9700
21:33026181:C:Gacceptor_gain0.9600
21:33026257:GCTG:Gdonor_gain0.9500
21:33026183:C:Gacceptor_gain0.9200
21:33026180:A:AGacceptor_gain0.9100
21:33026805:C:Aacceptor_gain0.8400
21:33026024:AGA:Adonor_gain0.8100
21:33026025:GAG:Gdonor_gain0.8100
21:33026326:T:Gdonor_gain0.8100
21:33026023:CAGAG:Cdonor_loss0.8000
21:33026024:AGAGT:Adonor_loss0.8000
21:33026026:AG:Adonor_loss0.8000
21:33026028:T:TCdonor_loss0.8000
21:33026029:AAGT:Adonor_loss0.8000

AlphaMissense

2070 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:33027188:T:CL109P1.000
21:33027190:C:AR110S1.000
21:33027190:C:GR110G1.000
21:33027194:T:CL111P1.000
21:33027200:T:AI113N1.000
21:33027200:T:CI113T1.000
21:33027200:T:GI113S1.000
21:33027202:A:CN114H1.000
21:33027202:A:GN114D1.000
21:33027203:A:TN114I1.000
21:33027204:C:AN114K1.000
21:33027204:C:GN114K1.000
21:33027208:C:AR116S1.000
21:33027208:C:GR116G1.000
21:33027208:C:TR116C1.000
21:33027209:G:CR116P1.000
21:33027211:G:AE117K1.000
21:33027211:G:CE117Q1.000
21:33027212:A:CE117A1.000
21:33027212:A:GE117G1.000
21:33027212:A:TE117V1.000
21:33027213:G:CE117D1.000
21:33027213:G:TE117D1.000
21:33027214:C:AR118S1.000
21:33027214:C:GR118G1.000
21:33027214:C:TR118C1.000
21:33027215:G:AR118H1.000
21:33027215:G:CR118P1.000
21:33027220:C:AR120S1.000
21:33027220:C:GR120G1.000

dbSNP variants (sampled 300 via entrez): RS1000244814 (21:33028324 C>A,G), RS1001314209 (21:33028256 G>A,C), RS1001385651 (21:33028060 T>C), RS1001619662 (21:33028637 G>A), RS1002185426 (21:33024428 T>C), RS1002829399 (21:33029441 C>T), RS1003004424 (21:33026925 T>C), RS1003056369 (21:33026597 T>C), RS1003259510 (21:33027237 C>T), RS1004274882 (21:33026092 T>C), RS1005205871 (21:33029678 G>A), RS1005573 (21:33026408 C>G,T), RS1005947968 (21:33024729 C>T), RS1006000367 (21:33024350 C>G), RS1006469889 (21:33028369 C>T)

Disease associations

OMIM: gene MIM:606386 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST001958_13Bulimia nervosa9.000000e-06
GCST008529_5Tea consumption2.000000e-12
GCST008832_7Gastroesophageal reflux disease3.000000e-08
GCST011124_24Caffeine consumption from tea4.000000e-11
GCST90002381_258Eosinophil count2.000000e-09
GCST90002382_536Eosinophil percentage of white cells4.000000e-10

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0010091tea consumption measurement
EFO:0004842eosinophil count
EFO:0007991eosinophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — Basic helix-loop-helix (BHLH) TFs

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
lead acetateincreases reaction, increases abundance, increases expression2
Valproic Acidaffects expression, increases expression2
methylmercuric chlorideincreases expression1
bisphenol Adecreases expression1
ascorbate-2-phosphateaffects binding, affects cotreatment, increases expression1
trichostatin Aincreases expression1
arseniteincreases methylation1
fenvaleratedecreases expression1
ochratoxin Adecreases expression1
4-aminophenylarsenoxideaffects binding, decreases reaction1
casticindecreases expression1
fumonisin B1decreases expression1
cotylenin Aincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
Chir 99021affects binding, affects cotreatment, increases expression, decreases expression1
abrineincreases expression1
bisphenol Sdecreases expression1
XAV939affects binding, affects cotreatment, increases expression, decreases expression1
LDN 193189affects cotreatment, increases expression1
MT19c compounddecreases expression1
Aripiprazoledecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Decitabineaffects expression1
Arsenic Trioxideaffects binding, decreases reaction1
Vorinostatdecreases expression1
Glyphosatedecreases expression1
Air Pollutantsaffects expression, increases abundance1
Allergensincreases expression1
Arsenicincreases expression1
Ascorbic Acidaffects cotreatment, decreases expression, affects binding1

Cellosaurus cell lines

6 cell lines: 3 embryonic stem cell, 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A4Z3SEES3-1V human OLIG2, clone1Embryonic stem cellMale
CVCL_A4Z4SEES3-1V human OLIG2, clone2Embryonic stem cellMale
CVCL_A4Z5SEES3-1V human OLIG2, clone3Embryonic stem cellMale
CVCL_B8LTAbcam HCT 116 OLIG2 KOCancer cell lineMale
CVCL_B8ZRAbcam MCF-7 OLIG2 KOCancer cell lineFemale
CVCL_B9NZAbcam A-549 OLIG2 KOCancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bulimia nervosa