PRR23D2

Summary

PRR23D2 (proline rich 23 domain containing 2, HGNC:49396) is a protein-coding gene on chromosome 8p23.1, encoding Proline-rich protein 23D2 (P0DMB1).

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001282478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49396
Approved symbol	PRR23D2
Name	proline rich 23 domain containing 2
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255378
Ensembl biotype	protein_coding
Entrez	100133251

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000528972

RefSeq mRNA: 1 — MANE Select: NM_001282478 NM_001282478

CCDS: CCDS64821

Canonical transcript exons

ENST00000528972 — 4 exons

Exon	Start	End
ENSE00002152561	7780335	7780396
ENSE00002156772	7781160	7781413
ENSE00002164479	7780022	7780089
ENSE00002196004	7778591	7779793

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 83.00.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.00	gold quality
testis	UBERON:0000473	50.76	gold quality
left testis	UBERON:0004533	49.53	gold quality
right testis	UBERON:0004534	47.91	gold quality
sural nerve	UBERON:0015488	42.48	gold quality
colonic epithelium	UBERON:0000397	41.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	41.64	gold quality
cortical plate	UBERON:0005343	39.99	gold quality
islet of Langerhans	UBERON:0000006	39.59	gold quality
prefrontal cortex	UBERON:0000451	39.37	gold quality
ganglionic eminence	UBERON:0004023	38.84	gold quality
putamen	UBERON:0001874	38.26	gold quality
nucleus accumbens	UBERON:0001882	37.64	gold quality
pancreas	UBERON:0001264	36.63	silver quality
hypothalamus	UBERON:0001898	36.52	silver quality
temporal lobe	UBERON:0001871	36.49	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
substantia nigra	UBERON:0002038	36.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	36.40	silver quality
amygdala	UBERON:0001876	36.27	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
caudate nucleus	UBERON:0001873	35.65	gold quality
body of pancreas	UBERON:0001150	35.01	silver quality
skeletal muscle tissue	UBERON:0001134	34.93	gold quality
leukocyte	CL:0000738	34.82	gold quality
lymph node	UBERON:0000029	34.82	gold quality
cerebral cortex	UBERON:0000956	34.55	silver quality
granulocyte	CL:0000094	34.48	gold quality
muscle tissue	UBERON:0002385	34.44	gold quality
brain	UBERON:0000955	34.19	silver 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)

35 targeting PRR23D2, 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-6867-5P	100.00	82.21	3464
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-12125	98.59	67.54	1044
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548
HSA-MIR-378E	98.43	65.99	551
HSA-MIR-378F	98.43	65.66	554
HSA-MIR-378H	98.43	66.16	545
HSA-MIR-378I	98.43	66.10	548
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-432-5P	98.00	68.13	989
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-4475	97.36	66.95	761
HSA-MIR-203B-5P	97.24	68.54	543
HSA-MIR-6718-5P	97.24	68.15	553
HSA-MIR-301A-5P	96.88	68.07	931
HSA-MIR-301B-5P	96.88	67.75	946

Cross-species orthologs

0 orthologs

Paralogs (5): PRR23B (ENSG00000184814), PRR23A (ENSG00000206260), PRR23E (ENSG00000214324), PRR23C (ENSG00000233701), PRR23D1 (ENSG00000255251)

Protein

Protein identifiers

Proline-rich protein 23D2 — P0DMB1 (reviewed: P0DMB1)

All UniProt accessions (1): P0DMB1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR23 family.

RefSeq proteins (1): NP_001269407* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018903	PRR23	Family

Pfam: PF10630

UniProt features (4 total): region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DMB1-F1	47.11	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr8p23

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (2): PRR23D1 (Two-hybrid), PRR23D2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

Diamond homologs: E9PI22, P0DMB1, Q6ZRP0, Q6ZRT6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

255 predictions. Top by Δscore:

Variant	Effect	Δscore
8:7779793:TC:T	acceptor_loss	1.0000
8:7779794:C:CC	acceptor_gain	1.0000
8:7779794:CT:C	acceptor_loss	1.0000
8:7780017:CTTA:C	donor_loss	1.0000
8:7780018:TTA:T	donor_loss	1.0000
8:7780019:TAC:T	donor_loss	1.0000
8:7780020:A:AC	donor_gain	1.0000
8:7780020:A:T	donor_loss	1.0000
8:7780021:C:CC	donor_gain	1.0000
8:7780021:C:T	donor_loss	1.0000
8:7780087:CAC:C	acceptor_gain	1.0000
8:7780090:C:CC	acceptor_gain	1.0000
8:7780090:C:CG	acceptor_loss	1.0000
8:7780091:T:A	acceptor_loss	1.0000
8:7780329:CCTTA:C	donor_loss	1.0000
8:7780330:CTTAC:C	donor_loss	1.0000
8:7780331:TTAC:T	donor_loss	1.0000
8:7780332:TACCT:T	donor_loss	1.0000
8:7780334:C:CG	donor_loss	1.0000
8:7780392:CCAAA:C	acceptor_gain	1.0000
8:7780393:CAAA:C	acceptor_gain	1.0000
8:7780393:CAAAC:C	acceptor_gain	1.0000
8:7780394:AAA:A	acceptor_gain	1.0000
8:7780395:AA:A	acceptor_gain	1.0000
8:7780397:C:CC	acceptor_gain	1.0000
8:7779789:TGATT:T	acceptor_gain	0.9900
8:7779790:GATT:G	acceptor_gain	0.9900
8:7779792:TT:T	acceptor_gain	0.9900
8:7779795:T:G	acceptor_loss	0.9900
8:7780085:TGCAC:T	acceptor_gain	0.9900

AlphaMissense

1810 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:7779678:A:G	L108P	0.954
8:7779684:A:G	L106P	0.950
8:7779729:A:G	L91S	0.945
8:7779651:A:T	I117N	0.933
8:7779648:A:T	V118D	0.924
8:7779170:A:C	F277L	0.919
8:7779170:A:T	F277L	0.919
8:7779172:A:G	F277L	0.919
8:7779708:A:G	L98P	0.898
8:7779299:G:C	F234L	0.896
8:7779299:G:T	F234L	0.896
8:7779301:A:G	F234L	0.896
8:7779759:A:T	I81K	0.896
8:7779756:A:T	V82D	0.884
8:7779657:A:G	L115P	0.882
8:7779645:G:T	P119H	0.876
8:7779651:A:C	I117S	0.867
8:7779702:A:G	L100S	0.849
8:7779633:A:G	L123P	0.842
8:7779753:A:G	L83P	0.841
8:7779759:A:C	I81R	0.840
8:7779645:G:C	P119R	0.836
8:7779566:G:C	F145L	0.830
8:7779566:G:T	F145L	0.830
8:7779568:A:G	F145L	0.830
8:7779236:A:C	S255R	0.825
8:7779236:A:T	S255R	0.825
8:7779238:T:G	S255R	0.825
8:7779368:G:C	F211L	0.825
8:7779368:G:T	F211L	0.825

dbSNP variants (sampled 300 via entrez): RS1002507382 (8:7784286 T>G), RS1002617167 (8:7785137 G>A), RS1008790432 (8:7782335 T>C), RS1012666041 (8:7782934 G>A,T), RS1012695458 (8:7784172 C>T), RS1015255185 (8:7784354 G>A,T), RS1015702094 (8:7785143 G>A,T), RS1019739022 (8:7785409 CAA>C), RS1022667129 (8:7782968 T>A), RS1022698428 (8:7784173 C>T), RS1027209586 (8:7785333 G>T), RS1027587379 (8:7784508 C>G,T), RS1032766472 (8:7782449 T>C), RS1038468889 (8:7782055 T>C), RS1040242809 (8:7782372 A>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
GCST010703_306	Brain morphology (MOSTest)	5.000000e-26

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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