PRR20A

Summary

PRR20A (proline rich 20A, HGNC:24754) is a protein-coding gene on chromosome 13q21.1, encoding Proline-rich protein 20A (P86496).

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 122183 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_198441

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24754
Approved symbol	PRR20A
Name	proline rich 20A
Location	13q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40296
Ensembl gene	ENSG00000204919
Ensembl biotype	protein_coding
Entrez	122183

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377931

RefSeq mRNA: 1 — MANE Select: NM_198441 NM_198441

CCDS: CCDS31981

Canonical transcript exons

ENST00000377931 — 3 exons

Exon	Start	End
ENSE00001712252	57142378	57143939
ENSE00001786302	57141286	57141356
ENSE00002621883	57140918	57141131

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 PRR20A, 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), PRR20D (ENSG00000227151), PRR20C (ENSG00000229665), PRR20E (ENSG00000234278), PRR20G (ENSG00000239620)

Protein

Protein identifiers

Proline-rich protein 20A — P86496 (reviewed: P86496)

All UniProt accessions (1): P86496

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR20 family.

RefSeq proteins (1): NP_940843* (*=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-P86496-F1	50.75	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr13q21, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, LET_7A_2_3P, LET_7G_3P, MIR5581_3P, MIR4714_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

240 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR20A	CT47A11	Q5JQC4	522
PRR20A	FAM218A	Q96MZ4	515
PRR20A	DRICH1	Q6PGQ1	507
PRR20A	NBPF4	Q96M43	507
PRR20A	CCDC28A-AS1	A0A096LPI5	479
PRR20A	ZNF688	P0C7X2	478
PRR20A	HIGD2B	Q4VC39	435
PRR20A	HECTD2	Q5U5R9	434
PRR20A	PRAMEF14	Q5SWL7	418
PRR20A	ZFP62	Q8NB50	418
PRR20A	FAM184A	Q8NB25	400
PRR20A	CCDC85C	A6NKD9	400
PRR20A	CLCC1	Q96S66	398
PRR20A	CCSER2	Q9H7U1	398
PRR20A	NBPF14	Q5TI25	398

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

395 predictions. Top by Δscore:

Variant	Effect	Δscore
13:57141129:CAG:C	donor_loss	1.0000
13:57141130:AGG:A	donor_loss	1.0000
13:57141131:GG:G	donor_loss	1.0000
13:57141132:GTGT:G	donor_loss	1.0000
13:57141133:T:A	donor_loss	1.0000
13:57141123:G:GT	donor_gain	0.9900
13:57141284:A:AG	acceptor_gain	0.9900
13:57141285:G:GA	acceptor_gain	0.9900
13:57141285:G:GC	acceptor_gain	0.9900
13:57141285:GC:G	acceptor_gain	0.9900
13:57141285:GCC:G	acceptor_gain	0.9900
13:57141285:GCCC:G	acceptor_gain	0.9900
13:57141285:GCCCC:G	acceptor_gain	0.9900
13:57142237:A:T	donor_gain	0.9900
13:57142376:A:AG	acceptor_gain	0.9900
13:57142377:G:GG	acceptor_gain	0.9900
13:57141123:G:T	donor_gain	0.9800
13:57141282:CCA:C	acceptor_loss	0.9800
13:57141284:AGC:A	acceptor_loss	0.9800
13:57141353:CAAG:C	donor_loss	0.9800
13:57141357:G:C	donor_loss	0.9800
13:57141357:G:GA	donor_loss	0.9800
13:57141358:T:A	donor_loss	0.9800
13:57142377:GCCT:G	acceptor_gain	0.9800
13:57142377:GCCTC:G	acceptor_gain	0.9800
13:57141284:A:C	acceptor_loss	0.9700
13:57142288:C:CG	donor_gain	0.9700
13:57142288:C:G	donor_gain	0.9700
13:57142377:GCC:G	acceptor_gain	0.9700
13:57142377:GC:G	acceptor_gain	0.9600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001505836 (13:57138944 A>G), RS1002337101 (13:57139143 T>C), RS1002389319 (13:57139094 T>C,G), RS1007144492 (13:57138932 C>A,G,T), RS1007536250 (13:57140341 G>A,T), RS1012465072 (13:57139186 C>G,T), RS1013836503 (13:57139085 G>A,C), RS1014137725 (13:57139035 C>A,G,T), RS1015904195 (13:57139012 T>C,G), RS1016314866 (13:57139098 T>C,G), RS1016388707 (13:57139045 C>A,G,T), RS1017163858 (13:57140364 T>C), RS1021236936 (13:57138934 G>C,T), RS1022136422 (13:57139197 T>A,G), RS1025140635 (13:57139039 G>C,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

8 associations (top):

Study	Trait	p-value
GCST002337_1	Amyotrophic lateral sclerosis (sporadic)	5.000000e-06
GCST005143_3	Telomere length	4.000000e-06
GCST006628_33	Systolic blood pressure	2.000000e-10
GCST007130_4	Cerebrospinal fluid t-tau:AB1-42 ratio	3.000000e-08
GCST011197_2	Left ventricular end-systolic volume (MTAG)	2.000000e-06
GCST011203_2	Left ventricular end-diastolic volume (MTAG)	1.000000e-08
GCST011212_1	Left ventricular mass (MTAG)	8.000000e-06
GCST011346_25	Total cholesterol levels	8.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0008206	left ventricular systolic function measurement
EFO:0008204	left ventricular diastolic function measurement
EFO:0009289	left ventricular mass
EFO:0004574	total cholesterol 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
Cadmium	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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