PRR20E

Summary

PRR20E (proline rich 20E, HGNC:37223) is a protein-coding gene on chromosome 13q21.1, encoding Proline-rich protein 20E (P86478).

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains.

Source: NCBI Gene 729250 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001130407

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37223
Approved symbol	PRR20E
Name	proline rich 20E
Location	13q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000234278
Ensembl biotype	protein_coding
Entrez	729250

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000434815

RefSeq mRNA: 1 — MANE Select: NM_001130407 NM_001130407

CCDS: CCDS45056

Canonical transcript exons

ENST00000434815 — 3 exons

Exon	Start	End
ENSE00001728465	57167197	57167410
ENSE00001755791	57168657	57170218
ENSE00001761045	57167565	57167635

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 53.08.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	53.08	gold quality
colonic epithelium	UBERON:0000397	41.07	gold quality
stromal cell of endometrium	CL:0002255	38.49	gold quality
monocyte	CL:0000576	38.41	gold quality
bone marrow cell	CL:0002092	38.04	gold quality
leukocyte	CL:0000738	37.44	gold quality
sural nerve	UBERON:0015488	37.37	gold quality
lower esophagus mucosa	UBERON:0035834	36.77	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
skeletal muscle tissue	UBERON:0001134	36.02	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.27	gold quality
muscle tissue	UBERON:0002385	33.00	gold quality
bone marrow	UBERON:0002371	32.70	gold quality
liver	UBERON:0002107	30.97	gold quality
prefrontal cortex	UBERON:0000451	29.19	gold quality
urinary bladder	UBERON:0001255	28.43	gold quality
ectocervix	UBERON:0012249	28.38	gold quality
blood	UBERON:0000178	28.28	gold quality
right uterine tube	UBERON:0001302	28.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
calcaneal tendon	UBERON:0003701	28.11	gold quality
lymph node	UBERON:0000029	27.57	gold quality
primary visual cortex	UBERON:0002436	27.28	gold quality
uterine cervix	UBERON:0000002	27.23	gold quality
right lobe of liver	UBERON:0001114	27.22	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting PRR20E, 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-4682	100.00	68.89	1258
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-137-3P	99.87	74.74	2401
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4742-3P	98.73	69.82	1803

Cross-species orthologs

0 orthologs

Paralogs (5): PRR20B (ENSG00000204918), PRR20A (ENSG00000204919), PRR20D (ENSG00000227151), PRR20C (ENSG00000229665), PRR20G (ENSG00000239620)

Protein

Protein identifiers

Proline-rich protein 20E — P86478 (reviewed: P86478)

All UniProt accessions (1): P86478

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR20 family.

RefSeq proteins (1): NP_001123879* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031439	PRR20	Family

Pfam: PF15708

UniProt features (6 total): compositionally biased region 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P86478-F1	48.50	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): chr13q21, LET_7A_2_3P, LET_7G_3P, MIR5581_3P, MIR4714_5P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

17 interactions, top by confidence:

A	B	Type	Score
FOXP3	PRR20E	psi-mi:“MI:0915”(physical association)	0.740
PRR20E	FOXP3	psi-mi:“MI:0915”(physical association)	0.740
BANP	PRR20E	psi-mi:“MI:0915”(physical association)	0.560
RBM10	PRR20E	psi-mi:“MI:0915”(physical association)	0.560
PRR20E	SIAH2	psi-mi:“MI:0914”(association)	0.530
PRR20E	ZNF593	psi-mi:“MI:0914”(association)	0.350

BioGRID (498): PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid), PRR20A (Two-hybrid)

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

Diamond homologs: P0DPQ3, P86478, P86479, P86480, P86481, P86496

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

333 predictions. Top by Δscore:

Variant	Effect	Δscore
13:57167411:GT:G	donor_loss	1.0000
13:57167412:T:A	donor_loss	1.0000
13:57167402:G:GT	donor_gain	0.9900
13:57167563:A:AG	acceptor_gain	0.9900
13:57167564:G:GT	acceptor_gain	0.9900
13:57167564:GC:G	acceptor_gain	0.9900
13:57167564:GCC:G	acceptor_gain	0.9900
13:57167564:GCCC:G	acceptor_gain	0.9900
13:57167564:GCCCC:G	acceptor_gain	0.9900
13:57168655:A:AG	acceptor_gain	0.9900
13:57168656:G:GG	acceptor_gain	0.9900
13:57167402:G:T	donor_gain	0.9800
13:57167561:CCAGC:C	acceptor_loss	0.9800
13:57167562:CA:C	acceptor_loss	0.9800
13:57167563:A:AC	acceptor_loss	0.9800
13:57167632:CAAGG:C	donor_loss	0.9800
13:57167634:AGG:A	donor_loss	0.9800
13:57167636:G:GC	donor_loss	0.9800
13:57167637:T:A	donor_loss	0.9800
13:57168516:A:T	donor_gain	0.9800
13:57168656:G:GA	acceptor_loss	0.9800
13:57168656:GCCT:G	acceptor_gain	0.9800
13:57168656:GCCTC:G	acceptor_gain	0.9800
13:57168567:C:CG	donor_gain	0.9700
13:57168656:GCC:G	acceptor_gain	0.9700
13:57168567:C:G	donor_gain	0.9600
13:57168656:GC:G	acceptor_gain	0.9600
13:57167411:G:GG	donor_gain	0.9500
13:57168039:C:G	donor_gain	0.9400
13:57167395:GCT:G	donor_gain	0.9200

AlphaMissense

1391 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:57169169:T:C	F189L	0.971
13:57169171:T:A	F189L	0.971
13:57169171:T:G	F189L	0.971
13:57169247:T:C	F215L	0.959
13:57169249:C:A	F215L	0.959
13:57169249:C:G	F215L	0.959
13:57169170:T:C	F189S	0.943
13:57169170:T:G	F189C	0.894
13:57169197:T:C	L198S	0.880
13:57169248:T:C	F215S	0.876
13:57168754:A:C	K50N	0.865
13:57168754:A:T	K50N	0.865
13:57167607:G:C	K8N	0.857
13:57167607:G:T	K8N	0.857
13:57169248:T:G	F215C	0.848
13:57169230:T:A	V209E	0.841
13:57168762:C:A	A53D	0.830
13:57169010:T:C	F136L	0.828
13:57169012:C:A	F136L	0.828
13:57169012:C:G	F136L	0.828
13:57168945:T:C	I114T	0.825
13:57168768:T:C	V55A	0.798
13:57168753:A:T	K50I	0.796
13:57169242:C:A	P213Q	0.793
13:57169164:T:A	I187N	0.790
13:57169220:G:C	G206R	0.789
13:57169239:T:A	V212D	0.778
13:57169169:T:G	F189V	0.775
13:57168776:T:C	F58L	0.768
13:57168778:C:A	F58L	0.768

dbSNP variants (sampled 300 via entrez): RS1050209561 (13:57166049 A>T), RS1158627174 (13:57166073 G>T), RS1167343959 (13:57166010 C>CA,CG,CGCA,CT), RS1168413196 (13:57165956 A>C,T), RS1168496963 (13:57165785 TG>T), RS1173459805 (13:57166057 G>A,C), RS1174378571 (13:57165995 C>A), RS1174925942 (13:57165687 G>A), RS1176857776 (13:57166023 C>A,G,T), RS1178550570 (13:57166015 C>CA,CG,CT), RS1181335138 (13:57165681 T>C), RS1182551960 (13:57166011 C>A,G), RS1188603472 (13:57166026 C>CCAA), RS1190418421 (13:57166000 A>C,G), RS1192620436 (13:57165985 T>C)

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

1 associations (top):

Study	Trait	p-value
GCST003830_39	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	5.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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