PRR23C

Summary

PRR23C (proline rich 23C, HGNC:37173) is a protein-coding gene on chromosome 3q23, encoding Proline-rich protein 23C (Q6ZRP0).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 55 total — 1 pathogenic
• MANE Select transcript: NM_001134657

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37173
Approved symbol	PRR23C
Name	proline rich 23C
Location	3q23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ46210
Ensembl gene	ENSG00000233701
Ensembl biotype	protein_coding
Entrez	389152

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000413199

RefSeq mRNA: 1 — MANE Select: NM_001134657 NM_001134657

CCDS: CCDS46924

Canonical transcript exons

ENST00000413199 — 1 exons

Exon	Start	End
ENSE00001726383	139042102	139044892

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 80.12.

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	80.12	gold quality
testis	UBERON:0000473	43.17	gold quality
right testis	UBERON:0004534	42.51	gold quality
left testis	UBERON:0004533	41.62	gold quality
skeletal muscle tissue	UBERON:0001134	38.91	gold quality
bone marrow cell	CL:0002092	37.95	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
lower esophagus mucosa	UBERON:0035834	37.19	gold quality
ganglionic eminence	UBERON:0004023	37.15	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	36.23	gold quality
sural nerve	UBERON:0015488	36.02	gold quality
monocyte	CL:0000576	33.65	gold quality
leukocyte	CL:0000738	33.59	gold quality
bone marrow	UBERON:0002371	32.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
liver	UBERON:0002107	31.84	gold quality
tonsil	UBERON:0002372	31.28	gold quality
lymph node	UBERON:0000029	30.99	gold quality
adrenal tissue	UBERON:0018303	30.84	gold quality
corpus callosum	UBERON:0002336	30.27	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.81	gold quality
blood	UBERON:0000178	28.71	gold quality
right uterine tube	UBERON:0001302	28.53	gold quality
urinary bladder	UBERON:0001255	28.42	gold quality
duodenum	UBERON:0002114	28.14	gold quality
islet of Langerhans	UBERON:0000006	27.88	gold quality
primary visual cortex	UBERON:0002436	27.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting PRR23C, 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-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311

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), PRR23A (ENSG00000206260), PRR23E (ENSG00000214324), PRR23D1 (ENSG00000255251), PRR23D2 (ENSG00000255378)

Protein

Protein identifiers

Proline-rich protein 23C — Q6ZRP0 (reviewed: Q6ZRP0)

All UniProt accessions (1): Q6ZRP0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR23 family.

RefSeq proteins (1): NP_001128129* (*=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-Q6ZRP0-F1	58.54	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 21 (showing top): MIR8485, MIR5688, MIR495_3P, MIR302C_5P, MIR3941, MIR330_3P, MIR4766_5P, MIR7154_5P, MIR4731_5P, MIR6878_5P, MIR6780A_5P, MIR7160_5P, MIR30C_2_3P, MIR30C_1_3P, MIR6788_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR23C	RSPRY1	Q96DX4	567
PRR23C	FAM90A10	A6NDY2	529
PRR23C	A0A0G2JN59	A0A0G2JN59	524
PRR23C	DEFB107A	Q8IZN7	502
PRR23C	CEP95	Q96GE4	479
PRR23C	DEFB105A	Q8NG35	462
PRR23C	DEFB106A	Q8N104	442
PRR23C	USP17L4	A6NCW7	418
PRR23C	DEFB103A	P81534	399
PRR23C	USP17L7	P0C7H9	391
PRR23C	MANSC4	A6NHS7	390
PRR23C	PAX9	P55771	379
PRR23C	SNTG1	Q9NSN8	377
PRR23C	AGBL1	Q96MI9	371
PRR23C	CDCA7L	Q96GN5	370

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTI1, A1A5P0, A5PKK9, A6H619, F5HEA3, O35147, P04289, P06499, P09255, P10542, P17473, P18346, P28925, Q00587, Q0VDT2, Q17QW1, Q19A41, Q3UE17, Q5JLR7, Q5U2Z0, Q61337, Q63625, Q68980, Q6NZY7, Q6S6U0, Q6S9E0, Q6ZPK7, Q6ZRP0, Q6ZRT6, Q750B5, Q75AS0, Q77NN7, Q7RTV3, Q80U49, Q86XN8, Q8JZP9, Q8TDN4, Q8V7G4, Q8V7G5, Q8VI59

Diamond homologs: A6NEV1, Q6ZRP0, Q6ZRT6, Q9CWP9, E9PI22, P0DMB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	47
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	Pathogenic

SpliceAI

135 predictions. Top by Δscore:

Variant	Effect	Δscore
3:139044391:TCG:T	donor_gain	0.9400
3:139044445:GAGG:G	donor_loss	0.8700
3:139044446:AGGT:A	donor_loss	0.8700
3:139044447:GG:G	donor_loss	0.8700
3:139044448:G:GA	donor_loss	0.8700
3:139044449:T:G	donor_loss	0.8700
3:139044450:GA:G	donor_loss	0.8600
3:139044445:G:GT	donor_gain	0.7800
3:139044451:A:T	donor_loss	0.7300
3:139044157:TAGGC:T	acceptor_gain	0.7100
3:139044452:G:C	donor_loss	0.7100
3:139044309:G:GT	donor_gain	0.7000
3:139044158:A:AG	acceptor_gain	0.6800
3:139044159:G:GG	acceptor_gain	0.6800
3:139044444:GGAG:G	donor_gain	0.6600
3:139044156:GTA:G	acceptor_loss	0.6500
3:139044158:A:C	acceptor_loss	0.6500
3:139044159:G:GT	acceptor_loss	0.6500
3:139044158:AGGCC:A	acceptor_gain	0.5900
3:139044072:T:TA	donor_gain	0.5800
3:139044445:GAG:G	donor_gain	0.5800
3:139044069:A:AC	donor_gain	0.5600
3:139044070:C:CC	donor_gain	0.5600
3:139044138:A:G	acceptor_loss	0.5600
3:139043918:G:T	donor_gain	0.5400
3:139043974:TCG:T	donor_gain	0.5400
3:139044153:C:A	acceptor_gain	0.5400
3:139044448:G:GG	donor_gain	0.5400
3:139044070:CTT:C	donor_gain	0.5300
3:139044147:GTCCT:G	acceptor_loss	0.5300

AlphaMissense

1659 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:139043841:G:C	F260L	0.925
3:139043841:G:T	F260L	0.925
3:139043843:A:G	F260L	0.925
3:139043859:C:A	K254N	0.860
3:139043859:C:G	K254N	0.860
3:139043850:T:A	R257S	0.848
3:139043850:T:G	R257S	0.848
3:139044322:A:G	I100T	0.841
3:139043964:G:C	F219L	0.826
3:139043964:G:T	F219L	0.826
3:139043966:A:G	F219L	0.826
3:139044240:G:C	F127L	0.826
3:139044240:G:T	F127L	0.826
3:139044242:A:G	F127L	0.826
3:139043842:A:G	F260S	0.821
3:139044331:A:T	L97H	0.814
3:139043976:G:C	F215L	0.806
3:139043976:G:T	F215L	0.806
3:139043978:A:G	F215L	0.806
3:139043842:A:C	F260C	0.799
3:139044331:A:G	L97P	0.796
3:139044540:C:A	K27N	0.791
3:139044540:C:G	K27N	0.791
3:139043932:A:T	L230H	0.786
3:139044325:A:T	V99E	0.786
3:139044382:A:T	L80Q	0.766
3:139044322:A:C	I100S	0.765
3:139044132:G:C	F163L	0.764
3:139044132:G:T	F163L	0.764
3:139044134:A:G	F163L	0.764

dbSNP variants (sampled 300 via entrez): RS1000475685 (3:139045510 G>A), RS1000527628 (3:139045769 C>G,T), RS1001752405 (3:139044160 G>A), RS1002519533 (3:139042906 G>A,C), RS1004108993 (3:139041993 T>C,G), RS1004820180 (3:139043202 C>A), RS1004852559 (3:139042278 C>T), RS1006238035 (3:139041950 C>A,G), RS1006322546 (3:139046372 C>T), RS1007327191 (3:139045159 GT>G), RS1008157544 (3:139046030 T>A), RS1008325403 (3:139043751 G>A), RS1008495801 (3:139043694 A>G), RS1011246893 (3:139042699 T>C), RS1011281677 (3:139042456 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

3 associations (top):

Study	Trait	p-value
GCST003983_35	Male-pattern baldness	3.000000e-09
GCST005790_90	Rosacea symptom severity	3.000000e-06
GCST006661_139	Male-pattern baldness	3.000000e-19

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
Benzo(a)pyrene	affects methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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