POU2AF2

Summary

POU2AF2 (POU class 2 homeobox associating factor 2, HGNC:30527) is a protein-coding gene on chromosome 11q23.1, encoding POU domain class 2-associating factor 2 (Q8IXP5). Transcriptional coactivator of POU2F3.

Enables sequence-specific DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in nucleus.

Source: NCBI Gene 341032 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_198498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30527
Approved symbol	POU2AF2
Name	POU class 2 homeobox associating factor 2
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC50104, OCA-T1
Ensembl gene	ENSG00000150750
Ensembl biotype	protein_coding
OMIM	620671
Entrez	341032

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000280325, ENST00000635886, ENST00000637637, ENST00000667535

RefSeq mRNA: 1 — MANE Select: NM_198498 NM_198498

CCDS: CCDS31674

Canonical transcript exons

ENST00000280325 — 5 exons

Exon	Start	End
ENSE00000996125	111285653	111286401
ENSE00000996127	111284076	111284377
ENSE00003793680	111281398	111281440
ENSE00003799460	111255983	111256092
ENSE00003866195	111245725	111245863

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 84.44.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1296 / max 35.9227, expressed in 51 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116604	0.0566	22
116603	0.0367	16
116605	0.0205	11
116606	0.0158	10

Top tissues by expression

223 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	84.44	gold quality
mucosa of transverse colon	UBERON:0004991	77.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.44	gold quality
left testis	UBERON:0004533	65.70	gold quality
islet of Langerhans	UBERON:0000006	64.90	gold quality
right testis	UBERON:0004534	63.83	gold quality
gall bladder	UBERON:0002110	63.44	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	63.44	gold quality
testis	UBERON:0000473	63.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	63.26	gold quality
parotid gland	UBERON:0001831	62.37	gold quality
body of stomach	UBERON:0001161	61.47	gold quality
nasal cavity epithelium	UBERON:0005384	61.38	gold quality
gastrocnemius	UBERON:0001388	60.97	gold quality
muscle of leg	UBERON:0001383	60.93	gold quality
endothelial cell	CL:0000115	60.61	gold quality
stomach	UBERON:0000945	58.15	gold quality
esophagus squamous epithelium	UBERON:0006920	57.32	gold quality
colonic mucosa	UBERON:0000317	56.92	gold quality
parietal pleura	UBERON:0002400	56.44	gold quality
visceral pleura	UBERON:0002401	56.03	gold quality
transverse colon	UBERON:0001157	55.87	gold quality
heart right ventricle	UBERON:0002080	55.85	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	55.63	gold quality
tibial nerve	UBERON:0001323	55.62	gold quality
rectum	UBERON:0001052	55.55	gold quality
mucosa of sigmoid colon	UBERON:0004993	55.40	gold quality
cartilage tissue	UBERON:0002418	55.22	gold quality
decidua	UBERON:0002450	54.66	gold quality
nasal cavity mucosa	UBERON:0001826	54.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting POU2AF2, 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-3658	99.96	73.87	4379
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-6730-3P	97.03	67.54	889
HSA-MIR-1587	96.95	64.03	932

Literature-anchored findings (GeneRIF, showing 2)

• OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage. (PMID:35576971)
• COLCA2 (POU2AF3) and likely C11orf53 (POU2AF2) function as transcriptional co-activators of POU2F3 in tuft cell-like small cell lung cancer. (PMID:36253350)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pou2af2	ENSMUSG00000036027
rattus_norvegicus	Pou2af2	ENSRNOG00000012022

Protein

Protein identifiers

POU domain class 2-associating factor 2 — Q8IXP5 (reviewed: Q8IXP5)

Alternative names: Oct coactivator from tuft cells 1, POU class 2 homeobox-associating factor 2

All UniProt accessions (3): Q8IXP5, A0A1B0GU63, A0A8V8SAS4

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional coactivator of POU2F3. This complex drives the development of tuft cells, a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tissues.

Subunit / interactions. Interacts with POU2F3 (via the POU domain) in a DNA-dependent manner; this interaction recruits POU2AF2 to chromatin and increases POU2F3 transactivation activity.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Tissue specificity. Expressed in tuft cells of colon mucosa, as well as in small intestine and thymus.

Domain organisation. In the N-terminus, possesses a conserved OCA domain for bivalent binding to class II POU domain-containing transcription factors and to an octamer DNA motif (5’-ATGAAAT-3’).

Similarity. Belongs to the POU2AF family.

RefSeq proteins (1): NP_940900* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037655	POU2AF2	Family
IPR047571	OCA	Domain

Pfam: PF17721

UniProt features (7 total): region of interest 2, mutagenesis site 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9PFP	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IXP5-F1	51.84	0.01

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 (2):

Position	Phenotype
16	abolishes interaction with pou2f3.
22	abolishes interaction with pou2f3.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 35 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, DBP_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_COACTIVATOR_ACTIVITY, FEVR_CTNNB1_TARGETS_UP, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR642A_3P_MIR642B_3P, MIR200A_5P, MIR200B_5P, MIR301B_5P, MIR301A_5P, MIR6730_3P, MIR3188

GO Biological Process (1): positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (5): transcription coactivator activity (GO:0003713), sequence-specific DNA binding (GO:0043565), POU domain binding (GO:0070974), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
DNA binding	1
protein domain specific binding	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POU2AF2	POU2AF3	A8K830	878
POU2AF2	POU2AF1	Q16633	553
POU2AF2	IQCJ	Q1A5X6	480
POU2AF2	C11orf87	Q6NUJ2	479
POU2AF2	EXOC3L4	Q17RC7	446
POU2AF2	ARHGAP20	Q9P2F6	444
POU2AF2	DIP2B	Q9P265	432
POU2AF2	CFAP263	Q9H0I3	418
POU2AF2	CAPSL	Q8WWF8	411
POU2AF2	TMEM39A	Q9NV64	400
POU2AF2	PLEKHD1	A6NEE1	392
POU2AF2	NUDT12	Q9BQG2	380
POU2AF2	MACIR	Q96GV9	378
POU2AF2	YPEL5	P62699	355
POU2AF2	F8WDG0	F8WDG0	352

IntAct

3 interactions, top by confidence:

A	B	Type	Score
POU2AF2	SMYD1	psi-mi:“MI:0915”(physical association)	0.370
POU2AF2	CLIC3	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): C11orf53 (Positive Genetic), FBXO10 (Affinity Capture-MS), CLIC3 (Affinity Capture-MS), APP (Reconstituted Complex), SMYD1 (Two-hybrid)

ESM2 similar proteins: A0PJS5, A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A3KNJ3, A7Y7W3, A8K830, F6W2R2, F8VPY8, O15353, O42506, O43186, O54751, P14653, P17919, P28322, P31276, P32243, P40646, P43268, P57082, P70056, P80206, P83758, Q00288, Q06710, Q08820, Q16633, Q1KL10, Q28GC4, Q28IU6, Q2KJA4, Q4G112, Q503Z8, Q64693, Q66IK1, Q66IT9, Q7T1C0

Diamond homologs: A0PJS5, Q8IXP5, Q9D8Q6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

590 predictions. Top by Δscore:

Variant	Effect	Δscore
11:111256092:TGT:T	donor_loss	1.0000
11:111256093:G:GG	donor_gain	1.0000
11:111256088:TTAAT:T	donor_gain	0.9900
11:111256089:TAAT:T	donor_gain	0.9900
11:111256090:AAT:A	donor_gain	0.9900
11:111256091:AT:A	donor_gain	0.9900
11:111256094:TAAGT:T	donor_loss	0.9900
11:111256080:C:G	donor_gain	0.9800
11:111281396:A:AG	acceptor_gain	0.9700
11:111281397:G:GG	acceptor_gain	0.9700
11:111281442:T:G	donor_loss	0.9700
11:111284064:ATTT:A	acceptor_gain	0.9700
11:111284064:ATTTG:A	acceptor_gain	0.9700
11:111284070:CAACA:C	acceptor_loss	0.9700
11:111284072:ACAG:A	acceptor_loss	0.9700
11:111284073:CAGG:C	acceptor_loss	0.9700
11:111284074:A:C	acceptor_loss	0.9700
11:111284075:G:GT	acceptor_loss	0.9700
11:111281392:TTCCA:T	acceptor_loss	0.9600
11:111281393:TCCA:T	acceptor_loss	0.9600
11:111281395:CAG:C	acceptor_loss	0.9600
11:111281397:G:GC	acceptor_loss	0.9600
11:111281436:GCCAG:G	donor_gain	0.9600
11:111281437:CCAGG:C	acceptor_loss	0.9600
11:111281438:CAGG:C	acceptor_loss	0.9600
11:111281439:AGG:A	acceptor_loss	0.9600
11:111281440:GGT:G	acceptor_loss	0.9600
11:111281441:G:GC	acceptor_loss	0.9600
11:111281442:TGAG:T	acceptor_loss	0.9600
11:111281443:GA:G	acceptor_loss	0.9600

AlphaMissense

1842 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:111286022:T:A	W227R	0.976
11:111286022:T:C	W227R	0.976
11:111284113:A:C	R15S	0.967
11:111284113:A:T	R15S	0.967
11:111284112:G:C	R15T	0.962
11:111284112:G:T	R15I	0.962
11:111286024:G:C	W227C	0.957
11:111286024:G:T	W227C	0.957
11:111285662:T:A	W107R	0.955
11:111285662:T:C	W107R	0.955
11:111285995:T:A	W218R	0.950
11:111285995:T:C	W218R	0.950
11:111284110:A:C	R14S	0.949
11:111284110:A:T	R14S	0.949
11:111285664:G:C	W107C	0.942
11:111285664:G:T	W107C	0.942
11:111286049:T:G	Y236D	0.930
11:111284109:G:T	R14I	0.919
11:111284109:G:C	R14T	0.918
11:111285997:G:C	W218C	0.915
11:111285997:G:T	W218C	0.915
11:111284149:A:C	K27N	0.914
11:111284149:A:T	K27N	0.914
11:111284106:T:A	V13D	0.913
11:111284099:T:G	Y11D	0.907
11:111284148:A:T	K27I	0.907
11:111285655:G:C	R104S	0.904
11:111285655:G:T	R104S	0.904
11:111285827:T:G	Y162D	0.900
11:111286002:A:T	K220I	0.899

dbSNP variants (sampled 300 via entrez): RS1000010171 (11:111251729 C>G,T), RS1000203210 (11:111276319 C>A,T), RS1000268392 (11:111252203 C>G,T), RS1000338326 (11:111282922 C>A), RS1000344623 (11:111282353 A>AT), RS1000375238 (11:111264234 G>A), RS1000447762 (11:111270420 G>A), RS1000534196 (11:111274900 A>G), RS1000677790 (11:111262857 A>C,G), RS1000898224 (11:111244599 T>A), RS1001108634 (11:111281352 C>G), RS1001127697 (11:111264076 A>G), RS1001129644 (11:111257522 C>G,T), RS1001187745 (11:111268879 T>C,G), RS1001315885 (11:111275867 G>A,T)

Disease associations

OMIM: gene MIM:620671 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002783_590	Body mass index	6.000000e-06
GCST004162_32	Carotid plaque burden	4.000000e-06
GCST005580_176	Intraocular pressure	2.000000e-08
GCST005667_46	Central corneal thickness	4.000000e-10
GCST007147_7	Lateral ventricular volume in normal aging	3.000000e-08
GCST007856_51	Colorectal cancer or advanced adenoma	2.000000e-31
GCST009391_987	Metabolite levels	2.000000e-06
GCST011616_61	Cortical volume	1.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006501	carotid plaque build
EFO:0004695	intraocular pressure measurement
EFO:0005213	central corneal thickness
EFO:0008487	lateral ventricle volume measurement
EFO:0010475	deoxycholate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
(+)-JQ1 compound	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

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