PRR23A

Summary

PRR23A (proline rich 23A, HGNC:37172) is a protein-coding gene on chromosome 3q23, encoding Proline-rich protein 23A (A6NEV1).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_001134659

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37172
Approved symbol	PRR23A
Name	proline rich 23A
Location	3q23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206260
Ensembl biotype	protein_coding
Entrez	729627

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000383163

RefSeq mRNA: 1 — MANE Select: NM_001134659 NM_001134659

CCDS: CCDS46923

Canonical transcript exons

ENST00000383163 — 1 exons

Exon	Start	End
ENSE00001495173	139003962	139006268

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 83.83.

Top tissues by expression

126 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	83.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.06	gold quality
colonic epithelium	UBERON:0000397	59.40	gold quality
right testis	UBERON:0004534	56.44	gold quality
bone marrow cell	CL:0002092	56.39	gold quality
testis	UBERON:0000473	55.90	gold quality
left testis	UBERON:0004533	55.40	gold quality
bone marrow	UBERON:0002371	42.08	gold quality
stromal cell of endometrium	CL:0002255	39.87	gold quality
skeletal muscle tissue	UBERON:0001134	37.55	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	36.30	gold quality
sural nerve	UBERON:0015488	35.72	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.50	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
left ovary	UBERON:0002119	35.17	gold quality
tonsil	UBERON:0002372	34.32	gold quality
duodenum	UBERON:0002114	32.48	gold quality
liver	UBERON:0002107	32.37	gold quality
endometrium	UBERON:0001295	31.78	gold quality
right uterine tube	UBERON:0001302	29.80	gold quality
urinary bladder	UBERON:0001255	29.56	gold quality
prefrontal cortex	UBERON:0000451	29.51	gold quality
monocyte	CL:0000576	29.43	gold quality
myometrium	UBERON:0001296	29.42	gold quality
leukocyte	CL:0000738	29.27	gold quality
lymph node	UBERON:0000029	28.77	gold quality
smooth muscle tissue	UBERON:0001135	27.47	gold quality
islet of Langerhans	UBERON:0000006	26.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting PRR23A, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-1275	99.47	67.90	2749

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr23a2	ENSMUSG00000063058
mus_musculus	Prr23a4	ENSMUSG00000074123
mus_musculus	Prr23a3	ENSMUSG00000090470
mus_musculus	Prr23a1	ENSMUSG00000091080
rattus_norvegicus	Prr23d1	ENSRNOG00000061716
rattus_norvegicus	Prr23a2	ENSRNOG00000078785
rattus_norvegicus	Prr23a1	ENSRNOG00000088509
rattus_norvegicus	Prr23a3	ENSRNOG00000090421

Paralogs (5): PRR23B (ENSG00000184814), PRR23E (ENSG00000214324), PRR23C (ENSG00000233701), PRR23D1 (ENSG00000255251), PRR23D2 (ENSG00000255378)

Protein

Protein identifiers

Proline-rich protein 23A — A6NEV1 (reviewed: A6NEV1)

All UniProt accessions (1): A6NEV1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR23 family.

RefSeq proteins (1): NP_001128131* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018903	PRR23	Family

Pfam: PF10630

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-A6NEV1-F1	58.78	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 28 (showing top): MIR616_5P, MIR371B_5P, MIR373_5P, MIR4306, MIR548AV_5P_MIR548K, MIR8054, MIR4644, MIR185_5P, MIR1284, MIR4723_5P, MIR6870_5P, MIR6878_5P, MIR7111_5P, MIR5698, MIR8084

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

40 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR23A	IQCJ	Q1A5X6	584
PRR23A	FAM90A10	A6NDY2	583
PRR23A	A0A0G2JN59	A0A0G2JN59	556
PRR23A	DEFB107A	Q8IZN7	545
PRR23A	DEFB105A	Q8NG35	504
PRR23A	DEFB106A	Q8N104	479
PRR23A	USP17L4	A6NCW7	476
PRR23A	PRSS22	Q9GZN4	475
PRR23A	USP17L7	P0C7H9	446
PRR23A	HMCES	Q96FZ2	445
PRR23A	DEFB103A	P81534	402
PRR23A	USP17L1	Q7RTZ2	370
PRR23A	DEFB108B	Q8NET1	316
PRR23A	PRR23D1	E9PI22	303
PRR23A	DEFB4A	O15263	256

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVZ6, A0A1W2PR82, A0A286YDK6, A2A9F4, A2VE02, A5D7I0, A6H7B4, A6NE82, A6NEV1, A6NJB7, A6NJI1, A6NJJ6, A6QP24, A6QPM6, A8MZG2, D3ZAQ5, D4AAA5, O94850, O95873, P0C7X2, P50617, P70339, Q0P5M0, Q2KIL8, Q2KIS6, Q3UN58, Q3ZCQ2, Q5JPB2, Q5M844, Q5VZ46, Q6AY88, Q6GQX2, Q6NZ36, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86YN6, Q8C1M2, Q8K2F3

Diamond homologs: A6NEV1, Q6ZRP0, Q6ZRT6, Q9CWP9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

109 predictions. Top by Δscore:

Variant	Effect	Δscore
3:139006039:TCG:T	donor_gain	0.9900
3:139006094:AGG:A	donor_loss	0.9900
3:139006095:GGTG:G	donor_loss	0.9900
3:139006096:GTG:G	donor_loss	0.9900
3:139006097:T:G	donor_loss	0.9900
3:139006093:G:GT	donor_gain	0.9800
3:139006092:GGAG:G	donor_gain	0.9700
3:139006093:GAG:G	donor_gain	0.9600
3:139006096:G:GG	donor_gain	0.9500
3:139006098:GA:G	donor_loss	0.9000
3:139005957:G:GT	donor_gain	0.8600
3:139005850:T:TA	donor_gain	0.7400
3:139005901:T:TA	donor_gain	0.7000
3:139005553:C:CT	acceptor_gain	0.6900
3:139006091:TGGAG:T	donor_gain	0.6800
3:139006092:GGAGG:G	donor_gain	0.6800
3:139005555:C:CT	acceptor_gain	0.6500
3:139005717:T:TA	donor_gain	0.6200
3:139005549:C:CT	acceptor_gain	0.5900
3:139005549:C:T	acceptor_gain	0.5800
3:139005551:C:CT	acceptor_gain	0.5800
3:139005922:T:TA	donor_gain	0.5700
3:139005472:T:TA	donor_gain	0.5500
3:139005714:A:AC	donor_gain	0.5400
3:139005715:C:CC	donor_gain	0.5400
3:139005715:CTT:C	donor_gain	0.5400
3:139005975:G:GT	donor_gain	0.5300
3:139005596:GCTCC:G	acceptor_gain	0.5100
3:139006207:C:CA	acceptor_gain	0.5000
3:139006041:GAC:G	donor_gain	0.4900

AlphaMissense

1681 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:139005477:G:C	F264L	0.948
3:139005477:G:T	F264L	0.948
3:139005479:A:G	F264L	0.948
3:139005495:C:A	K258N	0.904
3:139005495:C:G	K258N	0.904
3:139005970:A:G	I100T	0.892
3:139006188:C:A	K27N	0.887
3:139006188:C:G	K27N	0.887
3:139005486:T:A	R261S	0.884
3:139005486:T:G	R261S	0.884
3:139005888:G:C	F127L	0.853
3:139005888:G:T	F127L	0.853
3:139005890:A:G	F127L	0.853
3:139005478:A:G	F264S	0.847
3:139005976:A:G	I98T	0.844
3:139005478:A:C	F264C	0.841
3:139006248:G:C	S7R	0.841
3:139006248:G:T	S7R	0.841
3:139006250:T:G	S7R	0.841
3:139006036:A:G	L78P	0.838
3:139005979:A:G	L97P	0.836
3:139006030:A:T	L80Q	0.828
3:139005609:G:C	F220L	0.824
3:139005609:G:T	F220L	0.824
3:139005611:A:G	F220L	0.824
3:139005973:A:T	L99Q	0.821
3:139006063:A:G	L69P	0.815
3:139005973:A:G	L99P	0.812
3:139005979:A:T	L97H	0.809
3:139005970:A:C	I100S	0.799

dbSNP variants (sampled 300 via entrez): RS1000731540 (3:139007334 C>T), RS1001382642 (3:139007176 C>T), RS1001700908 (3:139005775 G>A), RS1001733491 (3:139006022 G>C,T), RS1002146518 (3:139007647 T>C), RS1002150776 (3:139005537 A>C,G), RS1002734824 (3:139004682 G>A), RS1003385253 (3:139003567 G>C,T), RS1005545735 (3:139006816 G>A), RS1005716152 (3:139003542 G>T), RS1006285519 (3:139004578 C>T), RS1006389037 (3:139007851 T>C), RS1007101410 (3:139006733 G>A), RS1007172509 (3:139006655 G>A), RS1007396547 (3:139006433 G>A)

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
GCST006661_139	Male-pattern baldness	3.000000e-19

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation	1
sodium arsenite	affects splicing, increases expression	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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