PRR20D

Summary

PRR20D (proline rich 20D, HGNC:37222) is a protein-coding gene on chromosome 13q21.1, encoding Proline-rich protein 20D (P86480).

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 729246 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 2 total — 2 pathogenic
• MANE Select transcript: NM_001130406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37222
Approved symbol	PRR20D
Name	proline rich 20D
Location	13q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000227151
Ensembl biotype	protein_coding
Entrez	729246

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000452123

RefSeq mRNA: 1 — MANE Select: NM_001130406 NM_001130406

CCDS: CCDS45055

Canonical transcript exons

ENST00000452123 — 3 exons

Exon	Start	End
ENSE00001688904	57160632	57160845
ENSE00001763353	57161000	57161070
ENSE00002234849	57162092	57163653

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 PRR20D, 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), PRR20C (ENSG00000229665), PRR20E (ENSG00000234278), PRR20G (ENSG00000239620)

Protein

Protein identifiers

Proline-rich protein 20D — P86480 (reviewed: P86480)

All UniProt accessions (1): P86480

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR20 family.

RefSeq proteins (1): NP_001123878* (*=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-P86480-F1	49.04	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 (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

270 interactions, top by confidence:

A	B	Type	Score
PRR20D	FOXP3	psi-mi:“MI:0915”(physical association)	0.600
PRR20D	DVL3	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ANKHD1	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ROR2	psi-mi:“MI:0915”(physical association)	0.560
	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ZNF385C	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
POGZ	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ZC3H10	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	SMAP1	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	FAM222B	psi-mi:“MI:0915”(physical association)	0.560
CCNK	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	RBPMS2	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	CDC37	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	BEND2	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	FAM168A	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	ZCCHC14	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	VAC14	psi-mi:“MI:0915”(physical association)	0.560
SNRPB	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	RHOXF2	psi-mi:“MI:0915”(physical association)	0.560
NCK2	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	TIAL1	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	MAGED1	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	DVL3	psi-mi:“MI:0915”(physical association)	0.000

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

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

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

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	Pathogenic
394565	GRCh37/hg19 13q21.1-21.33(chr13:56987542-69758302)x3	Pathogenic

SpliceAI

328 predictions. Top by Δscore:

Variant	Effect	Δscore
13:57160843:CAGG:C	donor_loss	1.0000
13:57160845:GG:G	donor_loss	1.0000
13:57160837:G:GT	donor_gain	0.9900
13:57160998:A:AG	acceptor_gain	0.9900
13:57160999:G:GA	acceptor_gain	0.9900
13:57160999:GC:G	acceptor_gain	0.9900
13:57160999:GCC:G	acceptor_gain	0.9900
13:57160999:GCCC:G	acceptor_gain	0.9900
13:57160999:GCCCC:G	acceptor_gain	0.9900
13:57162090:A:AG	acceptor_gain	0.9900
13:57162091:G:GG	acceptor_gain	0.9900
13:57160837:G:T	donor_gain	0.9800
13:57160996:CCAGC:C	acceptor_loss	0.9800
13:57160997:CAG:C	acceptor_loss	0.9800
13:57161067:CAAG:C	donor_loss	0.9800
13:57161069:AGGT:A	donor_loss	0.9800
13:57161072:T:A	donor_loss	0.9800
13:57161951:A:T	donor_gain	0.9800
13:57162091:GCCT:G	acceptor_gain	0.9800
13:57162091:GCCTC:G	acceptor_gain	0.9800
13:57162002:C:CG	donor_gain	0.9700
13:57162091:GCC:G	acceptor_gain	0.9700
13:57162002:C:G	donor_gain	0.9600
13:57162091:GC:G	acceptor_gain	0.9600
13:57160846:G:GG	donor_gain	0.9500
13:57161474:C:G	donor_gain	0.9400
13:57160830:GCT:G	donor_gain	0.9200
13:57160985:T:TA	acceptor_gain	0.9100
13:57161268:A:AG	donor_gain	0.9100
13:57161948:TGGA:T	donor_gain	0.9100

AlphaMissense

1391 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1161074016 (13:57159212 A>G), RS1161343873 (13:57159794 C>G), RS1164267901 (13:57159439 C>CG), RS1165774704 (13:57159205 A>G), RS1167123514 (13:57159407 A>G), RS1171799388 (13:57159401 C>A,G), RS1176557504 (13:57159480 C>G), RS1177888531 (13:57159082 C>G,T), RS1181129153 (13:57158884 C>A), RS1183398077 (13:57159790 A>G), RS1185630264 (13:57159364 G>A), RS1188801685 (13:57159421 A>ATT), RS1189046444 (13:57159495 G>GCA), RS1189681286 (13:57159435 GCCCCCCCCCCCC>G,GCC,GCCCCCCCCCC,GCCCCCCCCCCC,GCCCCCCCCCCCCC,GCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCCCCCC,GCCCCCCCCCCCCCCCCCCCCCCC), RS1191103932 (13:57159464 A>C,G)

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
GCST011703_15	Smoking initiation	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005670	smoking initiation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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