POU2F2

gene
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Also known as OCT2

Summary

POU2F2 (POU class 2 homeobox 2, HGNC:9213) is a protein-coding gene on chromosome 19q13.2, encoding POU domain, class 2, transcription factor 2 (P09086). Transcription factor that specifically binds to the octamer motif (5’-ATTTGCAT-3’).

The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5’-ATTTGCAT-3’, a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 5452 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 67 total
  • Druggable target: yes — 1 molecules with ChEMBL bioactivity
  • Cancer driver (intOGen): activating (oncogene-like) across 3 cancer types
  • Transcription factor: yes — 57 downstream targets (CollecTRI)
  • MANE Select transcript: NM_001394376

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9213
Approved symbolPOU2F2
NamePOU class 2 homeobox 2
Location19q13.2
Locus typegene with protein product
StatusApproved
AliasesOCT2
Ensembl geneENSG00000028277
Ensembl biotypeprotein_coding
OMIM164176
Entrez5452

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000342301, ENST00000389341, ENST00000524801, ENST00000526816, ENST00000526831, ENST00000528894, ENST00000529067, ENST00000529952, ENST00000530982, ENST00000531773, ENST00000532176, ENST00000533548, ENST00000534559, ENST00000558596, ENST00000560398, ENST00000560558, ENST00000560804, ENST00000598842, ENST00000625670, ENST00000636631, ENST00000692977, ENST00000932778

RefSeq mRNA: 10 — MANE Select: NM_001394376 NM_001207025, NM_001207026, NM_001247994, NM_001393934, NM_001393935, NM_001393936, NM_001394376, NM_001394377, NM_001394378, NM_002698

CCDS: CCDS33035, CCDS56094, CCDS56095, CCDS58665, CCDS92629, CCDS92631

Canonical transcript exons

ENST00000692977 — 15 exons

ExonStartEnd
ENSE000021904144211725042117432
ENSE000024880844209186742091940
ENSE000035192934209206942092270
ENSE000035393674209382942093895
ENSE000035864334209554542095693
ENSE000036831534209528642095462
ENSE000036968264209608242096243
ENSE000037005914212212642122182
ENSE000037012524212234442122378
ENSE000037012874212251142122576
ENSE000037020304209952742099618
ENSE000037024054209971642099821
ENSE000037870824209578842095929
ENSE000039330844208611042091591
ENSE000039361774213238442132446

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 97.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5729 / max 118.0688, expressed in 971 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1811404.8012856
1811420.3161117
1811410.2704135
1811390.161866
1811380.023411

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057697.38gold quality
mononuclear cellCL:000084297.15gold quality
buccal mucosa cellCL:000233696.95gold quality
leukocyteCL:000073896.86gold quality
granulocyteCL:000009494.87gold quality
endometrium epitheliumUBERON:000481193.70gold quality
lymph nodeUBERON:000002991.74gold quality
pancreatic ductal cellCL:000207991.67silver quality
paraflocculusUBERON:000535190.06gold quality
bloodUBERON:000017889.88gold quality
vena cavaUBERON:000408789.11silver quality
frontal poleUBERON:000279588.77gold quality
middle frontal gyrusUBERON:000270288.20gold quality
triceps brachiiUBERON:000150986.73gold quality
spleenUBERON:000210686.66gold quality
vermiform appendixUBERON:000115486.11gold quality
gluteal muscleUBERON:000200085.87gold quality
caecumUBERON:000115385.73gold quality
spermCL:000001985.49silver quality
male germ cellCL:000001585.01gold quality
tendon of biceps brachiiUBERON:000818885.00gold quality
cerebellar vermisUBERON:000472084.39gold quality
tonsilUBERON:000237283.80gold quality
Brodmann (1909) area 10UBERON:001354183.47silver quality
nippleUBERON:000203082.92gold quality
bone marrow cellCL:000209282.33gold quality
superior surface of tongueUBERON:000737182.17gold quality
cerebellar cortexUBERON:000212981.82gold quality
cerebellar hemisphereUBERON:000224581.75gold quality
superficial temporal arteryUBERON:000161481.71gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-GEOD-93593yes92.63
E-CURD-122yes83.98
E-ANND-3yes21.69
E-GEOD-135922yes10.40
E-HCAD-10yes4.36
E-GEOD-36552no48.05

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

57 targets.

TargetRegulation
ATP11C
BCL2Activation
BTK
CCR5Activation
CD36
CR2
CRISP3
CSF3Activation
CSN2Activation
EMC10
ETS1Unknown
GNAS
GNRH1
H2AC18
H2BC11
HBBUnknown
HLA-DOBUnknown
HLA-DRAUnknown
HMGA1Activation
ID2Unknown
IFNG
IGH
IGHM
IL2Activation
IL3Activation
IL4Activation
IL5Unknown
IL5RA
ITGAX
IVLRepression

JASPAR motifs

MotifNameFamily
MA0507.1POU2F2POU domain factors
MA0507.2POU2F2POU domain factors
MA0507.3POU2F2POU domain factors

JASPAR matrix evidence (PMIDs): PMID:11937630

Upstream regulators (CollecTRI, top): NFKB1, POU2F1, RELA, TCF3

miRNA regulators (miRDB)

204 targeting POU2F2, 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-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-4283100.0066.422097
HSA-MIR-9-5P100.0072.282361
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-6748-5P100.0065.811057
HSA-MIR-12118100.0065.881270
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-6759-5P99.9966.54785
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-450099.9972.722367
HSA-MIR-806899.9873.852376
HSA-MIR-477599.9875.006394
HSA-MIR-3173-3P99.9866.491217
HSA-MIR-6891-5P99.9866.531372
HSA-MIR-6793-5P99.9765.95758
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029

Literature-anchored findings (GeneRIF, showing 29)

  • The function of human Oct-2 in immunoglobulin(Ig)-secreting cells requires plasmacytoma-specific coativator OCA-B working synergistically to sustain the gene expression profile of the Ig-secreting cell. (PMID:14662861)
  • DNase I-hypersensitive site 4 (hs4) enhancer activity in mature Burkitt’s lymphoma B cells is regulated by synergistic involvement of both Oct-2 and NF-kappa B family members; Oct-2 is required for hs4 enhancer activity. (PMID:14707079)
  • Alteration of the OCT2 locus does not correlate with its suppressed expression in Hodgkin lymphoma. (PMID:15796964)
  • physical binding to the family of repeats in Epstein-Barr virus oriP by the cellular transcription factors Oct-1 and Oct-2 was demonstrated by using an electrophoretic mobility-shift assay (PMID:15831936)
  • Oct-2, therefore, acts as a cell survival factor in t(14;18) lymphoma cells by directly activating the antiapoptotic gene bcl-2. (PMID:16186795)
  • The transcription factors Oct-1 and -2 inhibit and enhance, respectively, the expression of exon 1-containing transcripts and CCR5 surface levels. (PMID:17442950)
  • Oct-2 and its cofactor Bob-1 have an important function in mediating the IgH enhancer-bcl-2 promoter region interactions (PMID:18695675)
  • Oct-2, was studied in detail and found to be a bifunctional regulator: It can either repress or induce neuronal differentiation, depending on the particular isoform (PMID:19270158)
  • Data suggest that OCT2 and/or OCT3 might be involved in the initial component of histamine uptake, whereas the later component of histamine uptake is likely to be mediated by another, as yet undefined uptake system(s). (PMID:19271143)
  • Renal OCT2 expression is no important in the renal excretion of metformin (PMID:19536068)
  • OCT-2 may act as a cell survival factor in acute myeloid leukemia by mediating expression of downstream targets, such as BCL-2. (PMID:20141429)
  • Gefitinib may exert an inhibitory effect on the intracellular accumulation of drugs transported by hOCT1 and hOCT2. (PMID:20363215)
  • Twenty-two cases of nodular lymphocyte predominant Hodgkin lymphoma were studied for the immunohistochemical expression of Pax-5, Oct-2, BOB.1, Bcl-6 protein and MUM1/IRF-4. (PMID:21424034)
  • Half of the cases displayed Oct-2 expression (15/30 cases) of systemic anaplastic large-cell lymphoma measured by tissue microarray immunohistochemistry. (PMID:22158496)
  • B-cell specific transcription factor, Oct-2, inhibits the function of the viral immediate-early protein, BZLF1, and prevents lytic viral reactivation. Oct-2 potentiates establishment of EBV latency in B cells. (PMID:22346751)
  • a differential control exerted by both Oct-1 and Oct-2 in the transcriptional regulation of the HMGA1 gene (PMID:24367622)
  • Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma. (PMID:24435047)
  • POU2F2 regulated ROBO1 transcription, thus functionally contributing to Gastric cancer metastasis. (PMID:26019213)
  • findings show that cellular factors OCT2 and HCF1 bind OriP in association with Epstein-Barr virus nuclear antigen 1 to maintain elevated histone H3K4me3 and transcriptional enhancer function (PMID:27009953)
  • Identification of novel prostate cancer drivers, ERF, CREB3L1, and POU2F2, using RegNetDriver, a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network. (PMID:28750683)
  • OBF1 and Oct factors control the germinal center transcriptional program. (PMID:33512466)
  • POU2F2 promotes the proliferation and motility of lung cancer cells by activating AGO1. (PMID:33832481)
  • POU2F2 regulates glycolytic reprogramming and glioblastoma progression via PDPK1-dependent activation of PI3K/AKT/mTOR pathway. (PMID:33931589)
  • Long Non-Coding RNA ARAP1-AS1 Facilitates the Progression of Cervical Cancer by Regulating miR-149-3p and POU2F2. (PMID:33965958)
  • CBX7 represses the POU2F2 to inhibit the PD-L1 expression and regulate the immune response in bladder cancer. (PMID:35526483)
  • OCT2 expression in histiocytoses. (PMID:36754897)
  • The MYC-regulated lncRNA LNROP (ENSG00000254887) enables MYC-driven cell proliferation by controlling the expression of OCT2. (PMID:36849510)
  • Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration. (PMID:38254723)
  • POU2F2-mediated upregulation of lncRNA PTPRG-AS1 inhibits ferroptosis in breast cancer via miR-376c-3p/SLC7A11 axis. (PMID:38318853)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriopou2f2bENSDARG00000019658
mus_musculusPou2f2ENSMUSG00000008496
rattus_norvegicusPou2f2ENSRNOG00000055650
drosophila_melanogasteracj6FBGN0000028
drosophila_melanogastervvlFBGN0086680
caenorhabditis_elegansWBGENE00000441
caenorhabditis_elegansWBGENE00006818

Paralogs (17): POU1F1 (ENSG00000064835), POU4F3 (ENSG00000091010), POU6F2 (ENSG00000106536), POU2F3 (ENSG00000137709), POU2F1 (ENSG00000143190), POU4F2 (ENSG00000151615), POU4F1 (ENSG00000152192), HDX (ENSG00000165259), POU6F1 (ENSG00000184271), POU3F2 (ENSG00000184486), POU3F1 (ENSG00000185668), POU3F4 (ENSG00000196767), POU3F3 (ENSG00000198914), CCDC160 (ENSG00000203952), POU5F1 (ENSG00000204531), POU5F1B (ENSG00000212993), POU5F2 (ENSG00000248483)

Protein

Protein identifiers

POU domain, class 2, transcription factor 2P09086 (reviewed: P09086)

Alternative names: Lymphoid-restricted immunoglobulin octamer-binding protein NF-A2, Octamer-binding protein 2, Octamer-binding transcription factor 2

All UniProt accessions (15): A0A0D9SF23, A0A1B0GUT9, A0A1B0GV81, A0A1B0GW97, A0A8I5KYI8, B5ME60, P09086, E9PR37, H0YKT2, H0YLL6, H0YNG1, H0YNW1, M0R1I6, U3KQ96, U3KQN1

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that specifically binds to the octamer motif (5’-ATTTGCAT-3’). Regulates IL6 expression in B cells with POU2AF1. Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR. Activates the U2 small nuclear RNA (snRNA) promoter.

Subunit / interactions. Interacts with NR3C1, AR and PGR. Interacts with POU2AF1; the interaction increases POU2F2 transactivation activity.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Isoform 3 is B-cell specific. Isoform 5 is expressed in B-cells and the immunoglobulin-expressing T-cell line MOLT-4, but not in the T-cell line BW5147.

Activity regulation. Transactivation activity is enhanced by transcriptional coactivator POU2AF1.

Miscellaneous. Incomplete sequence.

Similarity. Belongs to the POU transcription factor family. Class-2 subfamily.

Isoforms (5)

UniProt IDNamesCanonical?
P09086-11yes
P09086-22
P09086-33
P09086-44
P09086-55, Oct-2B

RefSeq proteins (10): NP_001193954, NP_001193955, NP_001234923, NP_001380863, NP_001380864, NP_001380865, NP_001381305, NP_001381306, NP_001381307, NP_002689 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000327POU_domDomain
IPR000972TF_octamerFamily
IPR001356HDDomain
IPR009057Homeodomain-like_sfHomologous_superfamily
IPR010982Lambda_DNA-bd_dom_sfHomologous_superfamily
IPR013847POUDomain
IPR017970Homeobox_CSConserved_site
IPR050255POU_domain_TFFamily

Pfam: PF00046, PF00157

UniProt features (28 total): helix 7, region of interest 6, compositionally biased region 5, splice variant 5, chain 1, domain 1, mutagenesis site 1, DNA-binding region 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
9DZMX-RAY DIFFRACTION2.54
1HDPSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P09086-F160.370.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

PositionPhenotype
340–342suppresses dna-binding ability.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-6807505RNA polymerase II transcribes snRNA genes
R-HSA-9976102Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 296 (showing top): PID_BCR_5PATHWAY, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_CELLULAR_RESPONSE_TO_VIRUS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_CYTOKINE_PRODUCTION, GOBP_HUMORAL_IMMUNE_RESPONSE, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_DN, MODULE_38, XU_GH1_EXOGENOUS_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION, SCHLOSSER_SERUM_RESPONSE_UP, MODULE_112, SHEN_SMARCA2_TARGETS_DN, GOBP_RESPONSE_TO_VIRUS

GO Biological Process (11): regulation of transcription by RNA polymerase II (GO:0006357), humoral immune response (GO:0006959), positive regulation of interleukin-6 production (GO:0032755), positive regulation of transcription by RNA polymerase II (GO:0045944), cellular response to virus (GO:0098586), mature B cell differentiation (GO:0002335), regulation of DNA-templated transcription (GO:0006355), spermidine transport (GO:0015848), positive regulation of DNA-templated transcription (GO:0045893), cell maturation (GO:0048469), spermidine transmembrane transport (GO:1903711)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), protein binding (GO:0005515), spermidine transmembrane transporter activity (GO:0015606), protein domain specific binding (GO:0019904)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
RNA Polymerase II Transcription1
Differentiation of T cells1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription3
RNA polymerase II transcription regulatory region sequence-specific DNA binding3
cellular anatomical structure3
transcription by RNA polymerase II2
regulation of transcription by RNA polymerase II2
DNA-templated transcription2
immune response1
positive regulation of cytokine production1
interleukin-6 production1
regulation of interleukin-6 production1
positive regulation of DNA-templated transcription1
response to virus1
B cell differentiation1
regulation of gene expression1
regulation of RNA biosynthetic process1
polyamine transport1
positive regulation of RNA biosynthetic process1
cell development1
cellular developmental process1
anatomical structure maturation1
spermidine transport1
polyamine transmembrane transport1
transcription regulatory region nucleic acid binding1
sequence-specific double-stranded DNA binding1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
transcription cis-regulatory region binding1
transcription regulator activity1
DNA binding1
double-stranded DNA binding1
sequence-specific DNA binding1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
nucleic acid binding1
binding1
polyamine transmembrane transporter activity1
spermidine transmembrane transport1
protein binding1

Protein interactions and networks

STRING

1420 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
POU2F2POU2AF1Q16633803
POU2F2HCFC2Q9Y5Z7764
POU2F2CREB3O43889596
POU2F2BCL11AQ9H165576
POU2F2RUNX3Q13761572
POU2F2HCFC1P51610544
POU2F2NFKB1P19838522
POU2F2SPRR2AP35326491
POU2F2PAX5Q02548489
POU2F2MSLNQ13421478
POU2F2MYT1LQ9UL68467
POU2F2NAMPTP43490461
POU2F2EBF1Q9UH73458
POU2F2ELF3P78545447
POU2F2IRF4Q15306424

IntAct

22 interactions, top by confidence:

ABTypeScore
TMEM108TCAF2psi-mi:“MI:0914”(association)0.530
POU2F2CYRIBpsi-mi:“MI:0915”(physical association)0.400
POU2F2E6psi-mi:“MI:0915”(physical association)0.370
IFNA10POU2F2psi-mi:“MI:0915”(physical association)0.370
IFNA21POU2F2psi-mi:“MI:0915”(physical association)0.370
IFNA4POU2F2psi-mi:“MI:0915”(physical association)0.370
IL25POU2F2psi-mi:“MI:0915”(physical association)0.370
POU2AF1POU2F2psi-mi:“MI:0915”(physical association)0.370
FOXC2ZNF536psi-mi:“MI:0914”(association)0.350
FOXJ2TCERG1psi-mi:“MI:0914”(association)0.350
FOXS1DDX39Apsi-mi:“MI:0914”(association)0.350
TEAD2DDX39Apsi-mi:“MI:0914”(association)0.350
AQP3RTL8Cpsi-mi:“MI:0914”(association)0.350
POU2F2SMARCA4psi-mi:“MI:2364”(proximity)0.270
SMARCA4POU2F2psi-mi:“MI:2364”(proximity)0.270
POU2F2BRAFpsi-mi:“MI:2364”(proximity)0.270

BioGRID (37): POU2F2 (Affinity Capture-MS), POU2F2 (Affinity Capture-MS), POU2F2 (Affinity Capture-MS), POU2F2 (Affinity Capture-MS), POU2F2 (Affinity Capture-MS), GAPDH (Reconstituted Complex), POU2F2 (Reconstituted Complex), MSX2 (Two-hybrid), ESR1 (Reconstituted Complex), NR3C1 (Reconstituted Complex), AR (Reconstituted Complex), PGR (Reconstituted Complex), POU2F2 (Reconstituted Complex), MNAT1 (Reconstituted Complex), POU2F2 (Reconstituted Complex)

ESM2 similar proteins: A0A1L8FFY5, A1L0Z1, A1L1N5, B3DM25, B7ZQA9, D3ZTL1, P09086, P10037, P20268, P20912, P23760, P23899, P24350, P24610, P27889, P31362, P31363, P31364, P31365, P35680, P42571, P47239, P49335, P56224, P62515, P62516, P70030, P79745, P79746, Q00196, Q03365, Q05041, Q08478, Q15319, Q29013, Q4QQQ7, Q561L5, Q5RER5, Q63955, Q6DJN3

Diamond homologs: A0A1L8FFY5, A1L0Z1, A7Y7W2, B3DM23, B3DM25, B7ZQA9, D3ZTL1, G3V7L5, O97552, P09086, P10036, P10037, P13528, P14859, P15143, P16143, P16241, P17208, P20263, P20264, P20265, P20266, P20267, P20268, P20912, P20913, P20914, P21952, P24350, P25425, P28069, P31360, P31361, P31362, P31363, P31364, P31365, P31367, P31368, P31369

SIGNOR signaling

3 interactions.

AEffectBMechanism
YES1“up-regulates activity”POU2F2phosphorylation
POU2AF1up-regulatesPOU2F2binding
HMGB2“up-regulates activity”POU2F2binding

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 3 cancer types — DLBCLNOS, MLYM, NHL.

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance52
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2233 predictions. Top by Δscore:

VariantEffectΔscore
19:42091939:TT:Tacceptor_gain1.0000
19:42091941:C:CCacceptor_gain1.0000
19:42093893:GACC:Gacceptor_loss1.0000
19:42093896:C:CAacceptor_loss1.0000
19:42093896:C:CCacceptor_gain1.0000
19:42093897:T:Aacceptor_loss1.0000
19:42095301:G:Cdonor_gain1.0000
19:42095312:T:TAdonor_gain1.0000
19:42095313:C:Adonor_gain1.0000
19:42095340:A:ACdonor_gain1.0000
19:42095341:C:CCdonor_gain1.0000
19:42095401:T:TAdonor_gain1.0000
19:42095458:TGGTT:Tacceptor_gain1.0000
19:42095460:GTT:Gacceptor_gain1.0000
19:42095461:TT:Tacceptor_gain1.0000
19:42095461:TTCTG:Tacceptor_loss1.0000
19:42095463:C:CCacceptor_gain1.0000
19:42095539:CCTCA:Cdonor_loss1.0000
19:42095541:TCA:Tdonor_loss1.0000
19:42095542:CA:Cdonor_loss1.0000
19:42095543:A:ACdonor_gain1.0000
19:42095543:ACCGC:Adonor_loss1.0000
19:42095544:C:CGdonor_gain1.0000
19:42095544:CCG:Cdonor_gain1.0000
19:42095690:GTCT:Gacceptor_gain1.0000
19:42095692:CT:Cacceptor_gain1.0000
19:42095694:C:CCacceptor_gain1.0000
19:42095699:C:CTacceptor_gain1.0000
19:42095702:C:CTacceptor_gain1.0000
19:42095702:C:Tacceptor_gain1.0000

AlphaMissense

4013 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:42095357:G:AR354C1.000
19:42095357:G:TR354S1.000
19:42095358:T:AK353N1.000
19:42095358:T:GK353N1.000
19:42095359:T:AK353I1.000
19:42095360:T:CK353E1.000
19:42095364:C:AK351N1.000
19:42095364:C:GK351N1.000
19:42095365:T:AK351M1.000
19:42095366:T:CK351E1.000
19:42095366:T:GK351Q1.000
19:42095367:C:AQ350H1.000
19:42095367:C:GQ350H1.000
19:42095368:T:CQ350R1.000
19:42095368:T:GQ350P1.000
19:42095369:G:TQ350K1.000
19:42095371:C:GR349P1.000
19:42095371:C:TR349H1.000
19:42095372:G:AR349C1.000
19:42095372:G:CR349G1.000
19:42095372:G:TR349S1.000
19:42095374:C:GR348P1.000
19:42095375:G:AR348W1.000
19:42095375:G:CR348G1.000
19:42095376:G:CN347K1.000
19:42095376:G:TN347K1.000
19:42095377:T:AN347I1.000
19:42095377:T:GN347T1.000
19:42095378:T:AN347Y1.000
19:42095378:T:CN347D1.000

dbSNP variants (sampled 300 via entrez): RS1000035858 (19:42121133 T>C), RS1000114525 (19:42175062 G>A), RS1000128321 (19:42116643 C>G), RS1000153127 (19:42110609 T>A), RS1000181565 (19:42192543 G>A), RS1000185771 (19:42131212 G>T), RS1000198845 (19:42149773 A>G), RS1000235501 (19:42095876 C>G,T), RS1000254055 (19:42155174 C>G,T), RS1000289252 (19:42135777 G>A,T), RS1000312215 (19:42197148 G>C), RS1000312748 (19:42154943 A>G,T), RS1000339515 (19:42109994 C>T), RS1000340952 (19:42137959 G>A), RS1000342559 (19:42088415 G>A)

Disease associations

OMIM: gene MIM:164176 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST006083_7Prostate cancer (advanced)4.000000e-06
GCST006085_101Prostate cancer9.000000e-09
GCST007328_66Alcohol consumption (drinks per week)3.000000e-09
GCST007576_331Chronotype3.000000e-11
GCST010143_27Meat-related diet3.000000e-09
GCST90002381_344Eosinophil count2.000000e-10
GCST90002393_660Monocyte count2.000000e-13

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0008328chronotype measurement
EFO:0008111diet measurement
EFO:0004842eosinophil count
EFO:0005091monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3509582 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 5,282 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL237500LINAGLIPTIN45,282

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

PharmGKB variants

6 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs195854POU2F20.000
rs195862POU2F2, POU3F20.000
rs1869641POU2F20.000
rs1883306POU2F20.000
rs2444933POU2F20.000
rs3823036POU2F2, POU3F20.000

Binding affinities (BindingDB)

9 measured of 9 human assays (9 total across all organisms); most potent 9 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
(2R,6S)-10-hydroxy-7-methyl-8,11-dioxo-N-[(2,4,6-trifluorophenyl)methyl]-1,7-diazatricyclo[7.4.0.02,6]trideca-9,12-diene-12-carboxamideIC50216 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2S,6R)-10-hydroxy-7-methyl-8,11-dioxo-N-[(2,4,6-trifluorophenyl)methyl]-1,7-diazatricyclo[7.4.0.02,6]trideca-9,12-diene-12-carboxamideIC502490 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(4aR,11aS)-7-hydroxy-5-methyl-6,8-dioxo-N-[(2,4,6-trifluorophenyl)methyl]-1,2,3,4,4a,11a-hexahydropyrido[1,2-a]quinoxaline-9-carboxamideIC502510 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2R,7S)-8-ethyl-11-hydroxy-9,12-dioxo-N-[(2,4,6-trifluorophenyl)methyl]-5-oxa-1,8-diazatricyclo[8.4.0.02,7]tetradeca-10,13-diene-13-carboxamideIC506400 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2R,7R)-11-hydroxy-9,12-dioxo-8-(2,2,2-trifluoroethyl)-N-[(2,4,6-trifluorophenyl)methyl]-5-oxa-1,8-diazatricyclo[8.4.0.02,7]tetradeca-10,13-diene-13-carboxamideIC5010000 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2S,7S)-11-hydroxy-9,12-dioxo-8-(2,2,2-trifluoroethyl)-N-[(2,4,6-trifluorophenyl)methyl]-5-oxa-1,8-diazatricyclo[8.4.0.02,7]tetradeca-10,13-diene-13-carboxamideIC5010000 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2S,7S)-N-[(3-chloro-2,4-difluorophenyl)methyl]-8-ethyl-11-hydroxy-9,12-dioxo-5-oxa-1,8-diazatricyclo[8.4.0.02,7]tetradeca-10,13-diene-13-carboxamideIC5010000 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2S,6R)-N-[(3-chloro-2,4-difluorophenyl)methyl]-7-ethyl-10-hydroxy-8,11-dioxo-5-oxa-1,7-diazatricyclo[7.4.0.02,6]trideca-9,12-diene-12-carboxamideIC5010000 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use
(2R,6S)-10-hydroxy-8,11-dioxo-N-[(2,4,6-trifluorophenyl)methyl]-1,7-diazatricyclo[7.4.0.02,6]trideca-9,12-diene-12-carboxamideIC5010000 nMUS-9795602: Polycyclic-carbamoylpyridone compounds and their pharmaceutical use

ChEMBL bioactivities

10 potent at pChembl≥5 of 11 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.67IC50216nMCHEMBL5971009
5.60IC502493nMCHEMBL6007742
5.60IC502511nMCHEMBL5843987
5.28IC505300nMCHEMBL5563848
5.19IC506400nMCHEMBL5920219
5.00IC501e+04nMCHEMBL5892608
5.00IC501e+04nMCHEMBL5834509
5.00IC501e+04nMCHEMBL5820959
5.00IC501e+04nMCHEMBL5934829
5.00IC501e+04nMCHEMBL5995688

PubChem BioAssay actives

1 with measured affinity, of 46 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
4-methyl-6-[4-[[(3S,5R)-3-methyl-5-(4-methyl-1-oxo-3H-2-benzofuran-5-yl)piperazin-1-yl]methyl]triazol-2-yl]pyridine-3-carbonitrile2077522: Inhibition of OCT2 (unknown origin)ic505.3000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compounddecreases expression2
Benzo(a)pyreneaffects methylation, increases expression, increases methylation2
Formaldehydedecreases expression, increases expression2
Particulate Matterincreases abundance, increases expression, decreases expression2
GSK-J4decreases expression1
bisphenol Faffects cotreatment, increases methylation1
sotorasibaffects cotreatment, decreases expression1
sodium arseniteincreases expression1
pyrrolidine dithiocarbamic acidaffects cotreatment, decreases reaction, increases expression1
(E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxidedecreases expression1
oligofectamineincreases expression1
abrineincreases expression1
bisphenol Sdecreases methylation1
trametinibaffects cotreatment, decreases expression1
PCI 5002increases expression, affects cotreatment1
NVP-BKM120decreases expression, affects cotreatment1
Aripiprazoleaffects cotreatment, increases expression1
Fulvestrantincreases methylation, affects cotreatment1
Vorinostatdecreases expression1
Air Pollutantsincreases abundance, increases expression1
Cisplatindecreases reaction, increases expression1
Diazinonincreases methylation1
Doxorubicindecreases expression1
Estradiolincreases expression, affects cotreatment1
Ethyl Methanesulfonateincreases expression1
Nickelincreases expression1
Omeprazoledecreases reaction, increases expression1
Ozoneaffects cotreatment, increases expression1
Silicon Dioxideincreases expression1
Tetradecanoylphorbol Acetateincreases expression, affects cotreatment, decreases reaction1

ChEMBL screening assays

24 unique, capped per target: 14 admet, 10 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL3528440ADMETDrug transport in human OAT2 expressed in HEK Flp-In cellsExpression of organic anion transporter 2 in the human kidney and its potential role in the tubular secretion of guanine-containing antiviral drugs. — Drug Metab Dispos
CHEMBL4678468BindingInhibition of OCT2 (unknown origin) up to 50 uMDiscovery of Pamiparib (BGB-290), a Potent and Selective Poly (ADP-ribose) Polymerase (PARP) Inhibitor in Clinical Development. — J Med Chem

Cellosaurus cell lines

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

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

CellosaurusNameCategorySex
CVCL_A5L6SEES3-1V human POU2F2, clone1Embryonic stem cellMale
CVCL_A5L7SEES3-1V human POU2F2, clone2Embryonic stem cellMale
CVCL_A5L8SEES3-1V human POU2F2, clone3Embryonic stem cellMale
CVCL_B8MTAbcam HCT 116 POU2F2 KOCancer cell lineMale
CVCL_B9Q2Abcam A-549 POU2F2 KOCancer cell lineMale
CVCL_D2GZAbcam MCF-7 POU2F2 KOCancer cell lineFemale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.