POU2F1

Summary

POU2F1 (POU class 2 homeobox 1, HGNC:9212) is a protein-coding gene on chromosome 1q24.2, encoding POU domain, class 2, transcription factor 1 (P14859). Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’) and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins.

The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.

Source: NCBI Gene 5451 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 98 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Transcription factor: yes — 139 downstream targets (CollecTRI)
• MANE Select transcript: NM_002697

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9212
Approved symbol	POU2F1
Name	POU class 2 homeobox 1
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	OCT1
Ensembl gene	ENSG00000143190
Ensembl biotype	protein_coding
OMIM	164175
Entrez	5451

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 7 protein_coding, 7 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000271411, ENST00000367862, ENST00000367865, ENST00000367866, ENST00000420254, ENST00000429375, ENST00000442313, ENST00000443275, ENST00000470928, ENST00000490100, ENST00000492850, ENST00000541643, ENST00000557909, ENST00000559038, ENST00000559648, ENST00000560232, ENST00000648671, ENST00000919744

RefSeq mRNA: 5 — MANE Select: NM_002697 NM_001198783, NM_001198786, NM_001365848, NM_001365849, NM_002697

CCDS: CCDS1259, CCDS55655, CCDS55656

Canonical transcript exons

ENST00000367866 — 16 exons

Exon	Start	End
ENSE00002572678	167220886	167220958
ENSE00003695971	167383857	167383951
ENSE00003696128	167389588	167389761
ENSE00003696516	167376029	167376155
ENSE00003697182	167371917	167372036
ENSE00003698113	167374108	167374296
ENSE00003698998	167411959	167412304
ENSE00003699179	167332470	167332535
ENSE00003699689	167401451	167401556
ENSE00003699742	167396286	167396427
ENSE00003700887	167397994	167398133
ENSE00003701549	167365467	167365567
ENSE00003701727	167399186	167399365
ENSE00003701816	167370161	167370214
ENSE00003787634	167413026	167413114
ENSE00003848463	167415500	167427340

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 96.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.4993 / max 230.9802, expressed in 1645 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6429	8.4479	1639
6435	0.6043	169
6436	0.1623	88
6434	0.1389	64
6437	0.0983	42
6438	0.0476	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.45	gold quality
secondary oocyte	CL:0000655	93.05	gold quality
sural nerve	UBERON:0015488	92.85	gold quality
oocyte	CL:0000023	91.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.59	gold quality
calcaneal tendon	UBERON:0003701	87.20	gold quality
tendon	UBERON:0000043	86.04	gold quality
cerebellar vermis	UBERON:0004720	85.25	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.31	gold quality
tendon of biceps brachii	UBERON:0008188	83.48	gold quality
colonic epithelium	UBERON:0000397	83.40	gold quality
bone marrow cell	CL:0002092	83.19	gold quality
medial globus pallidus	UBERON:0002477	83.08	gold quality
urethra	UBERON:0000057	82.83	gold quality
nipple	UBERON:0002030	82.51	gold quality
corpus callosum	UBERON:0002336	82.43	gold quality
globus pallidus	UBERON:0001875	82.20	gold quality
saphenous vein	UBERON:0007318	82.19	gold quality
cranial nerve II	UBERON:0000941	81.89	gold quality
sperm	CL:0000019	81.83	gold quality
bone marrow	UBERON:0002371	80.74	gold quality
vena cava	UBERON:0004087	80.32	silver quality
tibia	UBERON:0000979	80.28	gold quality
male germ cell	CL:0000015	80.17	gold quality
amniotic fluid	UBERON:0000173	80.17	gold quality
synovial joint	UBERON:0002217	80.10	gold quality
ventral tegmental area	UBERON:0002691	80.06	gold quality
cerebellum	UBERON:0002037	79.64	gold quality
blood	UBERON:0000178	79.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.54
E-MTAB-6386	no	205.16

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

139 targets.

Target	Regulation
ADAM2
AHSP	Unknown
ALDH3A1	Activation
AR	Unknown
ATP11C
ATP6V1E1	Activation
BCL2
BDKRB1	Unknown
CAPN6	Unknown
CAT	Activation
CCND1	Activation
CDC6	Activation
CDKN1A	Unknown
CDKN2A
CDKN2B	Unknown
CDX2	Unknown
CDX4
CNTF
CR2	Unknown
CRISP3	Repression
CRP	Unknown
CSN2	Unknown
CXCL8	Activation
CXCR5	Unknown
CYP1A1	Unknown
CYP2A6
CYP4A11	Unknown
EMC10
ESR1	Unknown
ETS1	Unknown

JASPAR motifs

Motif	Name	Family
MA0785.1	POU2F1	POU domain factors
MA0785.2	POU2F1	POU domain factors
MA1962.1	POU2F1::SOX2	POU domain factors::SOX-related factors

JASPAR matrix evidence (PMIDs): PMID:1361172, PMID:29335749

Upstream regulators (CollecTRI, top): AP1, FOXC1, HNF1A, HNF4A, NFKB, NR0B2, PPARG, STAT3, USF1, USF2

miRNA regulators (miRDB)

473 targeting POU2F1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4455	100.00	65.48	1587
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954

Literature-anchored findings (GeneRIF, showing 40)

• immunodepletion of Oct-1 and NF-YA proteins or mutations in the OCT-1 and CAAT motifs disrupt BRCA1 binding to the GADD45 promoter (PMID:11777930)
• Results demonstrate that functional interaction of Oct-1 and Brn-1 with androgen receptors is determined by the precise sequence of the octamer binding site, and by differential interaction with transcriptional machinery. (PMID:11997177)
• Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors (PMID:12019209)
• Oct-1 potentiates CREB-dependent cyclin D1 transcriptional activity by a phospho-CREB and CREB binding protein-independent mechanism (PMID:12391146)
• results clearly indicate a role of octamer transcription factor-1 in the transcriptional repression of the human gonadotropin-releasing hormone receptor gene (PMID:12446597)
• Our data on the interaction of two promoters with the enhancer and silencer in different cell types point to fine tissue-specific regulation of the oct-1 gene expression, especially in lymphatic cells. (PMID:12669425)
• Selective inhibition of class switching to IGG and IgE by recruitment of this and HOXC4 proteins and Ku70/ku86 to newly identified ATTT cis-elements. (PMID:12672812)
• enhancement of transcriptional potential by OBF1 (PMID:12727885)
• transcription of the Oct-1 gene is regulated by two promoters located upstream of the exon 1U and upstream of the exon 1L (PMID:12853155)
• The Oct-1 protein has been isolated,purified and characterized functionally. Histone gene expression is dependent on OCT1 and OCA-S coactivator complex. (PMID:12887915)
• OCA-S is a multicomponent OCT1 coactivator which has been isolated and functionally characterized. (PMID:12887926)
• OCT1 and SOX2 have roles in transcriptional activation of the Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex (PMID:14559893)
• Histone deacetylase inhibitors can induce Gadd45 through its promoter without the need for functional p53, and both Oct-1 and NF-Y concertedly participate in trichostatin A-induced activation of the gadd45 promoter. (PMID:14586402)
• Results suggest a mechanism for the regulation of Oct-1 in response to DNA damage through specific phosphorylation within the NH(2)-terminal transcriptional regulatory domain. (PMID:14612514)
• transcriptional regulation of the key cell cycle regulator cyclin D1 and roles of both STAT5 and Oct-1 in this process (PMID:14645506)
• Data show that Oct-1 occupies the endogenous HLA-DRA promoter when the HLA-DRA promoter is inactive in retinoblastoma protein-defective cells. (PMID:15105429)
• Oct-1 and the TALE homeodomain proteins have roles in regulating the expression of the GnRH gene in neurons (PMID:15138251)
• a multiprotein complex containing GATA-1, Oct-1, and other protein factors may contribute to the formation of a repressive chromatin structure that silences gamma-globin gene expression (PMID:15613485)
• OCT-1 binds within DHS3 to silence Fshr transcription, an activity that involves members of the GATA family (PMID:15817654)
• 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)
• Data show that GRG proteins, including GRG5, interact with two regulators of GnRH transcription, the homeodomain proteins MSX1 and OCT1, and regulate GnRH promoter activity. (PMID:16002402)
• Regulation of basal and induced expression of C-reactive protein through an overlapping element for OCT-1 and NF-kappaB on the proximal promoter. (PMID:16116232)
• identified an AHSP gene erythroid promoter with functionally important binding sites for GATA-1- and Oct-1-related proteins (PMID:16186125)
• the binding of Oct-1 to the T-13,910 lactase variant directs increased lactase promoter activity and this might provide an explanation for the lactase persistence phenotype in the human population (PMID:16301215)
• in the case of one non-small cell lung carcinoma line (NSCLC), Rb re-expression failed to rescue HLA-DRA inducibility despite successful re-establishment of Rb-function; this failure is traceable to the failure of Rb to rescue normal Oct-1 function (PMID:16360016)
• interleukin-6 induces Oct-1 gene expression, providing a biologically relevant means by which NF-kappaB-dependent gene expression can be selectively reverted by Oct-1 to quiescent levels (PMID:17192276)
• POU5F1 and POU2F subfamily members play a pivotal role for the FZD5 expression in undifferentiated human ES cells, fetal liver/spleen, adult colon, pancreatic islet, and diffuse-type gastric cancer (PMID:17273778)
• Oct-1 is an important transcriptional repressor for p15(INK4b) gene and the transcriptional repression of the p15(INK4b) gene by Oct-1 may be one of the regulatory mechanisms of cellular senescence. (PMID:17316622)
• The transcription factors Oct-1 and -2 inhibit and enhance, respectively, the expression of exon 1-containing transcripts and CCR5 surface levels. (PMID:17442950)
• The cytotoxicity of oxaliplatin was suggested to be affected by the levels of ATP7A and hOCT1 mRNAs. (PMID:18030470)
• Suggest that Oct-1 may play an important role in the development of primary lower extremity varicose veins. (PMID:18083338)
• LOX-1 receptor blockade abrogates oxLDL-induced oxidative DNA damage and prevents activation of the transcriptional repressor Oct-1 in human coronary arterial endothelium. (PMID:18390905)
• Oct-1 transactivates hPTTG1, and both proteins are concordantly overexpressed in endocrine tumors. (PMID:18550719)
• Testosterone represses MAFbx expression via interactions of the AR with Oct-1. (PMID:18599544)
• A functional role of PPARgamma/RXRalpha and Oct-1 in the regulation of the FABP2 gene. (PMID:18634911)
• A redox-modulated direct p38/GAPDH-Oct-1 interaction nucleates the occupancy of the H2B promoter by the OCA-S complex, in which p36/LDH plays a critical role in the hierarchical organization of the complex. (PMID:18682386)
• intersegmental transfer involves a ternary intermediate, or transition state in which the DNA-binding domains bridge two different DNA fragments simultaneously (PMID:18772384)
• Oct1 may have regulatory functions in prostate development and cancer progression. (PMID:19058140)
• O-linked N-acetylglucosamines within the second serine/threonine-rich region of Sp1 interrupts a known interaction between Sp1 and Oct1 (PMID:19070619)
• Oct-1 is involved in the regulation of CDKN1A in reponse to clinically relevant doses of ionizing radiation. (PMID:19118657)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pou2f1b	ENSDARG00000007996
		ENSDARG00000102550
mus_musculus	Pou2f1	ENSMUSG00000026565
rattus_norvegicus	Pou2f1	ENSRNOG00000003581
drosophila_melanogaster	acj6	FBGN0000028
caenorhabditis_elegans		WBGENE00006818

Paralogs (17): POU2F2 (ENSG00000028277), POU1F1 (ENSG00000064835), POU4F3 (ENSG00000091010), POU6F2 (ENSG00000106536), POU2F3 (ENSG00000137709), 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 1 — P14859 (reviewed: P14859)

Alternative names: NF-A1, Octamer-binding protein 1, Octamer-binding transcription factor 1

All UniProt accessions (5): P14859, A0A0A0MSV5, A0A0A0MT46, A0A0C4DG88, Q16075

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’) and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR. (Microbial infection) In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes.

Subunit / interactions. Interacts with POU2AF1; the interaction increases POU2F1 transactivation activity. Interacts with NR3C1, AR, PGR and HCFC1. (Microbial infection) Associates with the herpes simplex virus VP16-induced complex; binding to HCFC1 activates the viral transcriptional activator VP16 for association with POU2F1, to form a multiprotein-DNA complex responsible for activating transcription of the viral immediate early genes. (Microbial infection) Interacts with human herpesvirus 8 (KSHV) protein RTA/ORF50; this interaction enhances RTA/ORF50-mediated transactivation of several viral promoters including K-bZIP promoter.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous. Isoform 2 is lymphocyte-specific.

Post-translational modifications. Phosphorylated by PRKDC.

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

Isoforms (6)

UniProt ID	Names	Canonical?
P14859-1	1	yes
P14859-2	2, Oct-1L, lymphocyte-specific
P14859-3	3
P14859-6	6
P14859-4	4
P14859-5	5

RefSeq proteins (5): NP_001185712, NP_001185715, NP_001352777, NP_001352778, NP_002688* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000327	POU_dom	Domain
IPR000972	TF_octamer	Family
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR010982	Lambda_DNA-bd_dom_sf	Homologous_superfamily
IPR013847	POU	Domain
IPR017970	Homeobox_CS	Conserved_site
IPR045703	POU2F1_C	Domain
IPR050255	POU_domain_TF	Family

Pfam: PF00046, PF00157, PF19536

UniProt features (35 total): helix 7, splice variant 6, compositionally biased region 5, modified residue 5, region of interest 5, sequence conflict 2, chain 1, domain 1, DNA-binding region 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
1E3O	X-RAY DIFFRACTION	1.9
1GT0	X-RAY DIFFRACTION	2.6
1HF0	X-RAY DIFFRACTION	2.7
1OCT	X-RAY DIFFRACTION	3
1CQT	X-RAY DIFFRACTION	3.2
1O4X	SOLUTION NMR
1POG	SOLUTION NMR
1POU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P14859-F1	50.69	0.17

Functional residue map

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

Post-translational modifications (5): 270, 276, 283, 385, 448

Mutagenesis-validated functional residues (1):

Position	Phenotype
385	loss of inhibition of dna binding.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-749476	RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76071	RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 0 (showing top):

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of miRNA transcription (GO:1902895), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), RNA polymerase II transcription regulator complex (GO:0090575)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Signaling by Interleukins	1
RNA Polymerase II Transcription	1
RNA Polymerase III Transcription	1
RNA Polymerase III Transcription Initiation	1
ESR-mediated signaling	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of DNA-templated transcription	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
negative regulation of RNA biosynthetic process	1
miRNA transcription	1
regulation of miRNA transcription	1
positive regulation of miRNA metabolic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
core promoter sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
protein binding	1
DNA binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
nuclear lumen	1
cytoplasm	1
endomembrane system	1
transcription regulator complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

1748 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POU2F1	HCFC1	P51610	982
POU2F1	POU2AF1	Q16633	843
POU2F1	HCFC2	Q9Y5Z7	836
POU2F1	BRCA1	P38398	713
POU2F1	CREB3	O43889	621
POU2F1	YY1	P25490	617
POU2F1	CREBZF	Q9NS37	587
POU2F1	DNM3	Q9UQ16	580
POU2F1	EP300	Q09472	560
POU2F1	NF1	P21359	547
POU2F1	GCM1	Q9NP62	543
POU2F1	MYC	P01106	532
POU2F1	HNF1A	P20823	529
POU2F1	GAPDH	P00354	527
POU2F1	ESR1	P03372	508

IntAct

71 interactions, top by confidence:

A	B	Type	Score
POU2F1	SP1	psi-mi:“MI:0915”(physical association)	0.720
SP1	POU2F1	psi-mi:“MI:0915”(physical association)	0.720
POU2F1	SP1	psi-mi:“MI:0407”(direct interaction)	0.720
SP1	POU2F1	psi-mi:“MI:0407”(direct interaction)	0.720
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
POU2F1	SP4	psi-mi:“MI:0915”(physical association)	0.560
POU2F1	POGZ	psi-mi:“MI:0915”(physical association)	0.560
POU2F1	PLK3	psi-mi:“MI:0915”(physical association)	0.560
SP4	POU2F1	psi-mi:“MI:0915”(physical association)	0.560
POGZ	POU2F1	psi-mi:“MI:0915”(physical association)	0.560
POU2F1	POU2F1	psi-mi:“MI:0915”(physical association)	0.550
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
PRR20E	SIAH2	psi-mi:“MI:0914”(association)	0.530
ALOXE3	HSPA8	psi-mi:“MI:0914”(association)	0.530
TEAD1	POU2F1	psi-mi:“MI:0407”(direct interaction)	0.440
HCFC1	POU2F1	psi-mi:“MI:0915”(physical association)	0.400
POU2F1		psi-mi:“MI:0915”(physical association)	0.400
POU2F1	IRF9	psi-mi:“MI:0915”(physical association)	0.370
POU2F1	HOXB13	psi-mi:“MI:0915”(physical association)	0.370
CEBPE	POU2F1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (246): LMNB1 (Affinity Capture-Western), POU2F1 (Two-hybrid), POU2F1 (Two-hybrid), SP4 (Two-hybrid), POGZ (Two-hybrid), POU2F1 (Affinity Capture-MS), POU2F1 (Far Western), POU2F1 (Reconstituted Complex), POU2F1 (Two-hybrid), POU2F1 (Affinity Capture-MS), POU2F1 (Affinity Capture-MS), POU2F1 (Affinity Capture-MS), POU2F1 (Affinity Capture-MS), POU2F1 (Affinity Capture-MS), POU2F1 (Affinity Capture-MS)

ESM2 similar proteins: A1Z9E2, B0R0I6, B5DE69, D3ZN95, E9Q7E2, P14859, P15143, P16143, P25425, P27699, P47825, P49848, P51610, P51611, Q02086, Q02446, Q03061, Q08CM4, Q09XV5, Q0IHV2, Q0P5K4, Q28BL7, Q29076, Q3TUF7, Q571G4, Q5E9U0, Q5F3U0, Q5R6A9, Q5RBN8, Q61191, Q62445, Q641Z1, Q68CP9, Q6MZP7, Q6P4L9, Q6ZPK0, Q7Z589, Q7ZUV7, Q7ZX03, Q86NP2

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

17 interactions.

A	Effect	B	Mechanism
POU2AF1	up-regulates	POU2F1	binding
POU2F1	“up-regulates quantity by expression”	HOXD10	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	HOXD11	“transcriptional regulation”
PRKAA1	down-regulates	POU2F1	phosphorylation
PER2	“down-regulates activity”	POU2F1	binding
POU2F1	“up-regulates quantity by expression”	SNAI2	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	TWIST1	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	GFI1B	“transcriptional regulation”
POU2F1	“down-regulates quantity by repression”	IL4	“transcriptional regulation”
PRKDC	down-regulates	POU2F1	phosphorylation
POU2F1	“up-regulates quantity by expression”	MYH2	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	MYH1	“transcriptional regulation”
POU2F1	“up-regulates quantity by expression”	MYH10	“transcriptional regulation”
HMGB2	“up-regulates activity”	POU2F1	binding
SNAPC	“up-regulates activity”	POU2F1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
anatomical structure morphogenesis	5	9.9×	8e-03
transcription by RNA polymerase II	9	9.1×	1e-04
brain development	7	8.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3619 predictions. Top by Δscore:

Variant	Effect	Δscore
1:167220955:GCAG:G	donor_gain	1.0000
1:167220956:CAGGT:C	donor_loss	1.0000
1:167220957:AGGTA:A	donor_loss	1.0000
1:167220958:GGT:G	donor_loss	1.0000
1:167220959:GTA:G	donor_loss	1.0000
1:167241541:GAT:G	donor_gain	1.0000
1:167332457:T:TA	acceptor_gain	1.0000
1:167332463:A:AG	acceptor_gain	1.0000
1:167332465:TGCA:T	acceptor_loss	1.0000
1:167332466:GCA:G	acceptor_loss	1.0000
1:167332467:CA:C	acceptor_loss	1.0000
1:167332468:A:AC	acceptor_loss	1.0000
1:167332468:A:AG	acceptor_gain	1.0000
1:167332469:G:GT	acceptor_gain	1.0000
1:167332469:GA:G	acceptor_gain	1.0000
1:167332469:GAC:G	acceptor_gain	1.0000
1:167332469:GACT:G	acceptor_gain	1.0000
1:167332469:GACTC:G	acceptor_gain	1.0000
1:167332535:GGTAA:G	donor_loss	1.0000
1:167332536:G:GG	donor_gain	1.0000
1:167332537:T:A	donor_loss	1.0000
1:167365464:TA:T	acceptor_loss	1.0000
1:167365465:A:AG	acceptor_gain	1.0000
1:167365465:AG:A	acceptor_gain	1.0000
1:167365466:G:GT	acceptor_gain	1.0000
1:167365466:GG:G	acceptor_gain	1.0000
1:167365466:GGC:G	acceptor_gain	1.0000
1:167365466:GGCA:G	acceptor_gain	1.0000
1:167365466:GGCAC:G	acceptor_gain	1.0000
1:167365563:ATCAG:A	donor_loss	1.0000

AlphaMissense

4934 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:167389697:T:A	L285H	1.000
1:167389697:T:C	L285P	1.000
1:167389706:T:A	L288H	1.000
1:167389706:T:C	L288P	1.000
1:167389706:T:G	L288R	1.000
1:167389714:T:C	F291L	1.000
1:167389715:T:C	F291S	1.000
1:167389715:T:G	F291C	1.000
1:167389716:T:A	F291L	1.000
1:167389716:T:G	F291L	1.000
1:167389717:G:C	A292P	1.000
1:167389718:C:A	A292D	1.000
1:167389718:C:T	A292V	1.000
1:167389726:T:C	F295L	1.000
1:167389727:T:C	F295S	1.000
1:167389727:T:G	F295C	1.000
1:167389728:C:A	F295L	1.000
1:167389728:C:G	F295L	1.000
1:167389729:A:G	K296E	1.000
1:167389730:A:C	K296T	1.000
1:167389730:A:T	K296I	1.000
1:167389731:A:C	K296N	1.000
1:167389731:A:T	K296N	1.000
1:167389738:C:G	R299G	1.000
1:167389739:G:C	R299P	1.000
1:167389742:T:A	I300N	1.000
1:167389742:T:C	I300T	1.000
1:167389742:T:G	I300S	1.000
1:167389748:T:C	L302P	1.000
1:167389750:G:A	G303R	1.000

dbSNP variants (sampled 300 via entrez): RS1000001985 (1:167239452 C>T), RS1000018039 (1:167415370 T>A), RS1000033177 (1:167300246 A>G), RS1000040519 (1:167220514 G>A,T), RS1000043307 (1:167323569 A>G), RS1000046953 (1:167264866 T>C), RS1000092934 (1:167348725 G>A,C), RS1000131116 (1:167251998 C>A), RS1000144082 (1:167263580 T>C), RS1000148444 (1:167298938 C>T), RS1000150471 (1:167343763 T>C), RS1000154392 (1:167372943 T>C), RS1000154665 (1:167258229 G>T), RS1000156282 (1:167330370 T>G), RS1000186080 (1:167246750 A>G)

Disease associations

OMIM: gene MIM:164175 | 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):

Study	Trait	p-value
GCST000248_4	Liver enzyme levels	4.000000e-06
GCST005174_1	Coronary artery calcified atherosclerotic plaque score in type 2 diabetes	7.000000e-06
GCST005175_1	Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes	3.000000e-06
GCST006627_71	Diastolic blood pressure	3.000000e-09
GCST008758_26	Pre-treatment viral load in HIV-1 infection	6.000000e-17
GCST008916_65	Asthma	9.000000e-10
GCST009798_40	Asthma	8.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0006336	diastolic blood pressure
EFO:0010125	viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3509601 (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).

Molecule	Name	Phase	Patents
CHEMBL237500	LINAGLIPTIN	4	5,282

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.00	IC50	1000	nM	CHEMBL5563848

PubChem BioAssay actives

1 with measured affinity, of 95 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.

Compound	Assay	Type	Value	Unit
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-carbonitrile	2077520: Inhibition of OCT1 (unknown origin)	ic50	1.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Valproic Acid	affects cotreatment, decreases expression	3
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
bisphenol S	decreases methylation, affects cotreatment, decreases expression	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
aristolochic acid I	decreases expression	1
lasiocarpine	decreases expression, increases metabolic processing	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
bisphenol A	decreases expression, affects cotreatment	1
trichostatin A	decreases expression	1
2-butenal	decreases expression	1
riddelliine	decreases expression, increases metabolic processing	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	affects cotreatment, affects expression	1
coenzyme Q10	increases expression, decreases reaction	1
lead chloride	affects cotreatment, affects expression	1
cadmium sulfate	affects cotreatment, affects expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
fenbuconazole	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	increases expression	1
Ethanol	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1

ChEMBL screening assays

14 unique, capped per target: 9 binding, 5 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3536917	ADMET	Drug uptake assessed as OCT1 (unknown origin)-mediated drug uptake expressed in HEK293 cells by liquid scintillation counting relative to control	Evaluation and prediction of potential drug-drug interactions of linagliptin using in vitro cell culture methods. — Drug Metab Dispos
CHEMBL4809211	Binding	Inhibition of human OCT1 assessed as reduction in OCT1-mediated metformin transport at 14900 uM relative to control	Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1YH	Abcam A-549 POU2F1 KO	Cancer cell line	Male
CVCL_D2NY	Abcam THP-1 POU2F1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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