POU5F2

Summary

POU5F2 (POU domain class 5, transcription factor 2, HGNC:26367) is a protein-coding gene on chromosome 5q15, encoding POU domain, class 5, transcription factor 2 (Q8N7G0). Transcription factor that binds preferentially to the octamer motif (5’-ATGTTAAT-3’).

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin.

Source: NCBI Gene 134187 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_153216

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26367
Approved symbol	POU5F2
Name	POU domain class 5, transcription factor 2
Location	5q15
Locus type	gene with protein product
Status	Approved
Aliases	SPRM-1, FLJ25680
Ensembl gene	ENSG00000248483
Ensembl biotype	protein_coding
Entrez	134187

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000606183

RefSeq mRNA: 1 — MANE Select: NM_153216 NM_153216

CCDS: CCDS59489

Canonical transcript exons

ENST00000606183 — 1 exons

Exon	Start	End
ENSE00003700386	93733220	93741600

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 76.69.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0201 / max 23.4564, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62599	0.0201	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.69	gold quality
bone marrow cell	CL:0002092	69.33	silver quality
colonic epithelium	UBERON:0000397	64.16	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	60.77	gold quality
calcaneal tendon	UBERON:0003701	60.50	gold quality
adrenal tissue	UBERON:0018303	57.94	gold quality
testis	UBERON:0000473	55.42	gold quality
left testis	UBERON:0004533	54.06	gold quality
adult organism	UBERON:0007023	53.55	silver quality
tonsil	UBERON:0002372	53.30	silver quality
right testis	UBERON:0004534	52.93	gold quality
tendon	UBERON:0000043	52.79	gold quality
endothelial cell	CL:0000115	52.56	gold quality
corpus callosum	UBERON:0002336	52.09	gold quality
lower lobe of lung	UBERON:0008949	47.94	silver quality
monocyte	CL:0000576	47.87	silver quality
leukocyte	CL:0000738	47.64	silver quality
middle temporal gyrus	UBERON:0002771	47.54	gold quality
cortical plate	UBERON:0005343	46.56	gold quality
blood	UBERON:0000178	46.35	silver quality
ganglionic eminence	UBERON:0004023	45.39	gold quality
skeletal muscle tissue	UBERON:0001134	44.91	gold quality
muscle tissue	UBERON:0002385	44.51	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
ventricular zone	UBERON:0003053	43.18	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
lower esophagus mucosa	UBERON:0035834	42.38	silver quality
urinary bladder	UBERON:0001255	42.26	gold quality
kidney	UBERON:0002113	41.81	silver quality
endometrium	UBERON:0001295	41.70	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting POU5F2, 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-3148	99.97	75.06	6478
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-4726-3P	98.49	63.89	1385

Literature-anchored findings (GeneRIF, showing 1)

• SRRM1 promotes the proliferation, migration, and invasion of hepatocellular carcinoma cells by regulating the JAK/STAT signaling pathway. (PMID:36270072)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	pou3f1	ENSDARG00000009823
danio_rerio	pou4f4	ENSDARG00000044375
danio_rerio	pou5f3	ENSDARG00000044774
mus_musculus	Pou5f2	ENSMUSG00000093668
drosophila_melanogaster	acj6	FBGN0000028
drosophila_melanogaster	vvl	FBGN0086680
caenorhabditis_elegans		WBGENE00000441
caenorhabditis_elegans		WBGENE00006818

Paralogs (17): POU2F2 (ENSG00000028277), 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)

Protein

Protein identifiers

POU domain, class 5, transcription factor 2 — Q8N7G0 (reviewed: Q8N7G0)

Alternative names: Sperm 1 POU domain transcription factor

All UniProt accessions (1): Q8N7G0

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds preferentially to the octamer motif (5’-ATGTTAAT-3’). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell.

Subcellular location. Nucleus.

Tissue specificity. Expressed in skeletal and cardiac muscles, brain, heart and lung. Little or no detectable expression found in pancreas, kidney, liver or placenta.

Similarity. Belongs to the POU transcription factor family. Class-5 subfamily.

RefSeq proteins (1): NP_694948* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000327	POU_dom	Domain
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR010982	Lambda_DNA-bd_dom_sf	Homologous_superfamily
IPR013847	POU	Domain
IPR050255	POU_domain_TF	Family

Pfam: PF00046, PF00157

UniProt features (6 total): sequence conflict 2, chain 1, domain 1, DNA-binding region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7G0-F1	62.16	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): chr5q15, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, LMTK3_TARGET_GENES, MIR4668_5P, MIR539_5P, MIR5584_5P, GSE14308_TH17_VS_NAIVE_CD4_TCELL_DN, GSE14308_NAIVE_CD4_TCELL_VS_NATURAL_TREG_UP, GSE14308_INDUCED_VS_NATURAL_TREG_DN, GSE10500_ARTHRITIC_SYNOVIAL_FLUID_VS_HEALTHY_MACROPHAGE_DN, TGACAGNY_MEIS1_01, RTAAACA_FREAC2_01

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): 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 (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POU5F2	ARB2A	Q8WUF8	612
POU5F2	EBLN2	Q6P2I7	432
POU5F2	SLF1	Q9BQI6	426
POU5F2	SPDYE3	A6NKU9	418
POU5F2	MCTP1	Q6DN14	414
POU5F2	FOXD4L5	Q5VV16	390
POU5F2	KIAA0825	Q8IV33	386
POU5F2	NANOGP8	Q6NSW7	359
POU5F2	NKX1-1	Q15270	353
POU5F2	FAM81B	Q96LP2	349
POU5F2	ACR	P10323	345
POU5F2	NKX1-2	Q9UD57	322
POU5F2	DAZL	Q92904	321
POU5F2	SPATA24	Q86W54	321
POU5F2	FOXL3	A0A1W2PRP0	319

IntAct

4 interactions, top by confidence:

A	B	Type	Score
KRTAP6-2	POU5F2	psi-mi:“MI:0915”(physical association)	0.560
POU5F2	KRTAP6-2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): POU5F2 (Two-hybrid), POU5F2 (Positive Genetic), RAB11A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A6NDS4, A6NER0, A6QPT6, B9A6J9, M3WHG5, O14771, O15482, O15553, O19110, O76081, P0C7X1, P0C7X3, P0C7X4, P35125, P48778, P48967, P79209, Q13670, Q15697, Q2TBC4, Q3T191, Q3UZD7, Q4R2Z8, Q5DRQ5, Q5SSQ6, Q5XFX8, Q69ZB3, Q6DHY5, Q6IPX1, Q6ZMN8, Q8BLR5, Q8BWA8, Q8IYF1, Q8IZP1, Q8JZW5, Q8N7G0

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

221 predictions. Top by Δscore:

Variant	Effect	Δscore
5:93734250:CAAGA:C	donor_gain	0.9600
5:93738416:A:AC	acceptor_gain	0.8000
5:93738417:C:CC	acceptor_gain	0.8000
5:93740809:T:TA	donor_gain	0.8000
5:93734251:A:C	donor_gain	0.7700
5:93740800:CGA:C	donor_gain	0.7400
5:93734249:A:AC	donor_gain	0.7300
5:93734250:C:CC	donor_gain	0.7300
5:93740995:T:TA	donor_gain	0.7000
5:93741050:G:C	donor_gain	0.7000
5:93740624:C:CT	donor_gain	0.6800
5:93740625:T:TT	donor_gain	0.6800
5:93740989:T:TA	donor_gain	0.6800
5:93738413:A:AC	acceptor_gain	0.6500
5:93740933:T:TA	donor_gain	0.6500
5:93738057:TGCAA:T	acceptor_gain	0.6400
5:93740888:C:CA	donor_gain	0.6300
5:93740898:T:TA	donor_gain	0.6300
5:93740934:C:A	donor_gain	0.6200
5:93740703:T:TA	donor_gain	0.6100
5:93741058:GCCTC:G	acceptor_gain	0.6000
5:93734244:A:AT	donor_gain	0.5900
5:93740872:C:CT	donor_gain	0.5700
5:93740920:G:A	donor_gain	0.5700
5:93741112:A:AT	acceptor_gain	0.5700
5:93741151:A:AT	donor_gain	0.5700
5:93740865:AGGG:A	donor_gain	0.5600
5:93740871:CCG:C	donor_gain	0.5600
5:93741029:T:TA	donor_gain	0.5600
5:93741061:T:TG	acceptor_gain	0.5600

AlphaMissense

2099 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:93740790:G:C	F258L	0.978
5:93740790:G:T	F258L	0.978
5:93740792:A:G	F258L	0.978
5:93741063:G:C	F167L	0.953
5:93741063:G:T	F167L	0.953
5:93741065:A:G	F167L	0.953
5:93741084:G:C	S160R	0.946
5:93741084:G:T	S160R	0.946
5:93741086:T:G	S160R	0.946
5:93741064:A:G	F167S	0.932
5:93741060:C:A	E168D	0.930
5:93741060:C:G	E168D	0.930
5:93741166:A:G	L133S	0.930
5:93741005:A:G	W187R	0.926
5:93741005:A:T	W187R	0.926
5:93741153:C:A	R137S	0.922
5:93741153:C:G	R137S	0.922
5:93741085:C:A	S160I	0.918
5:93741132:C:A	Q144H	0.917
5:93741132:C:G	Q144H	0.917
5:93741099:A:C	F155L	0.916
5:93741099:A:T	F155L	0.916
5:93741101:A:G	F155L	0.916
5:93741067:C:G	R166P	0.911
5:93741059:C:G	A169P	0.909
5:93740791:A:G	F258S	0.904
5:93741061:T:A	E168V	0.895
5:93741045:G:C	S173R	0.892
5:93741045:G:T	S173R	0.892
5:93741047:T:G	S173R	0.892

dbSNP variants (sampled 300 via entrez): RS1000091072 (5:93735049 A>G), RS1000463124 (5:93735455 C>T), RS1000514855 (5:93740683 A>G), RS1000899020 (5:93737826 A>C,G), RS1001396841 (5:93741841 T>C), RS1001431201 (5:93741619 A>C,G), RS1001486187 (5:93733444 C>T), RS1001626574 (5:93735008 C>T), RS1001811886 (5:93737099 A>G), RS1002170260 (5:93739179 C>T), RS1002407720 (5:93740253 C>T), RS1002435202 (5:93739912 T>A), RS1002658914 (5:93732958 A>G), RS10036024 (5:93739098 C>A), RS1003808296 (5:93738698 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006881_7	Hippocampal tail volume (corrected for total hippocampal volume)	3.000000e-09
GCST010701_76	Cortical surface area (MOSTest)	4.000000e-09
GCST010702_129	Subcortical volume (MOSTest)	2.000000e-15
GCST010703_4	Brain morphology (MOSTest)	5.000000e-34

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fluorene-9-bisphenol	decreases expression	1
quercitrin	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Diethylhexyl Phthalate	decreases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Sodium Selenite	decreases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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