MYPOP

Summary

MYPOP (Myb related transcription factor, partner of profilin, HGNC:20178) is a protein-coding gene on chromosome 19q13.32, encoding Myb-related transcription factor, partner of profilin (Q86VE0). Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5’-YAAC[GT]G-3'.

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 339344 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_001012643

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20178
Approved symbol	MYPOP
Name	Myb related transcription factor, partner of profilin
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	P42pop
Ensembl gene	ENSG00000176182
Ensembl biotype	protein_coding
OMIM	617861
Entrez	339344

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000322217, ENST00000904793, ENST00000904794, ENST00000904795

RefSeq mRNA: 1 — MANE Select: NM_001012643 NM_001012643

CCDS: CCDS33055

Canonical transcript exons

ENST00000322217 — 3 exons

Exon	Start	End
ENSE00001243342	45890023	45891323
ENSE00001334160	45901275	45901825
ENSE00001334165	45902570	45902613

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 90.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4588 / max 76.0922, expressed in 1796 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181586	12.1640	1793
181588	0.1485	69
181587	0.1464	65

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	90.46	gold quality
ileal mucosa	UBERON:0000331	90.14	gold quality
tibialis anterior	UBERON:0001385	88.43	silver quality
right frontal lobe	UBERON:0002810	87.94	gold quality
secondary oocyte	CL:0000655	87.70	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.91	gold quality
anterior cingulate cortex	UBERON:0009835	86.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.15	gold quality
prefrontal cortex	UBERON:0000451	84.89	gold quality
apex of heart	UBERON:0002098	84.65	gold quality
frontal cortex	UBERON:0001870	84.61	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.44	gold quality
neocortex	UBERON:0001950	84.36	gold quality
gastrocnemius	UBERON:0001388	84.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.70	gold quality
muscle of leg	UBERON:0001383	83.25	gold quality
cerebral cortex	UBERON:0000956	83.11	gold quality
lower esophagus mucosa	UBERON:0035834	83.11	gold quality
granulocyte	CL:0000094	83.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.85	gold quality
amygdala	UBERON:0001876	82.67	gold quality
cerebellar hemisphere	UBERON:0002245	82.50	gold quality
cerebellar cortex	UBERON:0002129	82.44	gold quality
postcentral gyrus	UBERON:0002581	81.94	gold quality
nucleus accumbens	UBERON:0001882	81.70	gold quality
cerebellum	UBERON:0002037	81.67	gold quality
superior frontal gyrus	UBERON:0002661	81.56	gold quality
putamen	UBERON:0001874	81.44	gold quality
forebrain	UBERON:0001890	81.32	gold quality
Ammon’s horn	UBERON:0001954	81.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.87

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2535.1	MYPOP	Myb-SANT

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

47 targeting MYPOP, 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-4692	100.00	67.32	2066
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-4755-3P	98.77	65.59	1915

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mypop	ENSMUSG00000048481

Protein

Protein identifiers

Myb-related transcription factor, partner of profilin — Q86VE0 (reviewed: Q86VE0)

Alternative names: Myb-related protein p42POP, Partner of profilin

All UniProt accessions (1): Q86VE0

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5’-YAAC[GT]G-3’. Dimerization with PFN1 reduces its DNA-binding capacity.

Subunit / interactions. Interacts with PFN1. Homodimer and heterodimer with PFN1.

Subcellular location. Nucleus.

Domain organisation. The proline-rich region is required for PFN1 interaction.

RefSeq proteins (1): NP_001012661* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001005	SANT/Myb	Domain
IPR028002	Myb_DNA-bind_5	Domain
IPR052870	Myb-related_repressor	Family

Pfam: PF13873

UniProt features (16 total): compositionally biased region 7, region of interest 4, short sequence motif 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86VE0-F1	65.80	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, AAGCCAT_MIR135A_MIR135B, PATIL_LIVER_CANCER, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, EBNA1BP2_TARGET_GENES, ID2_TARGET_GENES, SALL4_TARGET_GENES, ZNF282_TARGET_GENES, MIR135A_5P, MIR135B_5P

GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (7): 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 repressor activity, RNA polymerase II-specific (GO:0001227), identical protein binding (GO:0042802), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
negative regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
protein binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

252 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYPOP	PFN1	P07737	622
MYPOP	XPO6	Q96QU8	432
MYPOP	EIF4E3	Q8N5X7	379
MYPOP	PFN4	Q8NHR9	359
MYPOP	PFN3	P60673	356
MYPOP	GSDMC	Q9BYG8	351
MYPOP	EMID1	Q96A84	349
MYPOP	MKRN1	Q9UHC7	331
MYPOP	SNN	O75324	327
MYPOP	PFN2	P35080	326
MYPOP	R3HDM1	Q15032	311
MYPOP	CNNM2	Q9H8M5	296
MYPOP	YLPM1	P49750	294
MYPOP	ZNF318	Q5VUA4	278
MYPOP	DEFA5	Q01523	255

IntAct

122 interactions, top by confidence:

A	B	Type	Score
MYPOP	PRR3	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
HNRNPK	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRT40	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KHDRBS3	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
SAT1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
RBMY1A1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
TRA2B	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
MYPOP	MDFI	psi-mi:“MI:0915”(physical association)	0.560
MYPOP	CARD10	psi-mi:“MI:0915”(physical association)	0.560
RBMX	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
NCK2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
TNS2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
TGM1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
MYPOP	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
FHL3	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
SYNCRIP	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
HNRNPH1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-6	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-6	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
CIB4	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	MYPOP	psi-mi:“MI:0915”(physical association)	0.560
MYPOP	PRDM14	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (55): MYPOP (Affinity Capture-MS), MYPOP (Affinity Capture-MS), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid), MYPOP (Two-hybrid)

ESM2 similar proteins: A0A0U1RQ45, A0A1B0GWB2, A2A9T0, A6QPA0, A7MCY6, D3ZFB6, E9PUL5, E9Q0B3, F5GYI3, F5H4A9, J3QNX5, O70142, P0C1G7, P81408, P97764, P98077, Q148V8, Q15654, Q2KI80, Q3SX26, Q3SZL6, Q4V9L6, Q5FVJ4, Q5FW56, Q5RAC1, Q5T7N3, Q6DG50, Q6PAJ3, Q6PJ61, Q6ZMQ8, Q6ZNR0, Q6ZRV2, Q75VX8, Q7Z6L0, Q86UK7, Q86VE0, Q8BGW2, Q8BRJ3, Q8BX43, Q8C0R7

Diamond homologs: Q08B72, Q86VE0, Q8R4U1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	11	23.6×	3e-11

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	5	45.2×	2e-05
mRNA splicing, via spliceosome	5	17.0×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

407 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45891319:TGTAT:T	acceptor_gain	1.0000
19:45891320:GTAT:G	acceptor_gain	1.0000
19:45891321:TAT:T	acceptor_gain	1.0000
19:45891322:AT:A	acceptor_gain	1.0000
19:45891323:TCT:T	acceptor_loss	1.0000
19:45891324:C:CC	acceptor_gain	1.0000
19:45891324:C:T	acceptor_loss	1.0000
19:45891325:T:A	acceptor_loss	1.0000
19:45891326:G:C	acceptor_gain	0.9900
19:45891326:G:GC	acceptor_gain	0.9900
19:45901270:CTCA:C	donor_loss	0.9900
19:45901271:TCA:T	donor_loss	0.9900
19:45901272:CA:C	donor_loss	0.9900
19:45901273:A:C	donor_loss	0.9900
19:45901274:C:CA	donor_loss	0.9900
19:45901273:A:AC	donor_gain	0.9800
19:45901274:C:CC	donor_gain	0.9800
19:45901274:CCTG:C	donor_gain	0.9800
19:45891320:GTATC:G	acceptor_gain	0.9700
19:45891321:TATCT:T	acceptor_gain	0.9700
19:45891322:ATCTG:A	acceptor_gain	0.9700
19:45891323:TCTGT:T	acceptor_gain	0.9700
19:45891324:CTGT:C	acceptor_gain	0.9600
19:45891325:T:G	acceptor_gain	0.9500
19:45895527:T:C	donor_gain	0.9500
19:45902568:A:AC	donor_gain	0.9400
19:45902569:C:CC	donor_gain	0.9400
19:45902563:CACT:C	donor_loss	0.9300
19:45902564:ACTC:A	donor_loss	0.9300
19:45902565:CTCA:C	donor_loss	0.9300

AlphaMissense

2489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45901522:C:A	K84N	1.000
19:45901522:C:G	K84N	1.000
19:45901524:T:C	K84E	1.000
19:45901529:T:A	D82V	1.000
19:45901529:T:C	D82G	1.000
19:45901529:T:G	D82A	1.000
19:45901530:C:G	D82H	1.000
19:45901534:C:A	W80C	1.000
19:45901534:C:G	W80C	1.000
19:45901535:C:G	W80S	1.000
19:45901536:A:G	W80R	1.000
19:45901536:A:T	W80R	1.000
19:45901539:G:T	R79S	1.000
19:45901542:T:C	K78E	1.000
19:45901563:G:T	R71S	1.000
19:45901606:C:A	W56C	1.000
19:45901606:C:G	W56C	1.000
19:45901607:C:G	W56S	1.000
19:45901608:A:G	W56R	1.000
19:45901608:A:T	W56R	1.000
19:45901691:A:G	L28P	1.000
19:45901691:A:T	L28Q	1.000
19:45901703:T:A	E24V	1.000
19:45901714:G:C	F20L	1.000
19:45901714:G:T	F20L	1.000
19:45901715:A:C	F20C	1.000
19:45901715:A:G	F20S	1.000
19:45901716:A:G	F20L	1.000
19:45901510:C:A	K88N	0.999
19:45901510:C:G	K88N	0.999

dbSNP variants (sampled 300 via entrez): RS1000101153 (19:45902740 T>C,G), RS1000121350 (19:45894425 T>C), RS1000466884 (19:45894635 C>T), RS1000687419 (19:45899400 A>G), RS1000942052 (19:45889754 A>C), RS1001139379 (19:45901866 T>C,G), RS1001202556 (19:45899152 G>A), RS1001219501 (19:45894292 T>C), RS1001296159 (19:45894563 G>A), RS1001363725 (19:45897125 G>A), RS1001417410 (19:45890057 C>T), RS1001421339 (19:45902718 GC>G), RS1001571189 (19:45899833 T>G), RS1001798182 (19:45893405 C>A,G,T), RS1001809144 (19:45899561 C>A,T)

Disease associations

OMIM: gene MIM:617861 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009798_38	Asthma	2.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects expression, affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
methylparaben	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diuron	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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