PRR32

Summary

PRR32 (proline rich 32, HGNC:34498) is a protein-coding gene on chromosome Xq25, encoding Proline-rich protein 32 (B1ATL7).

At a glance

• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_001122716

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34498
Approved symbol	PRR32
Name	proline rich 32
Location	Xq25
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183631
Ensembl biotype	protein_coding
Entrez	100130613

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000371125

RefSeq mRNA: 1 — MANE Select: NM_001122716 NM_001122716

CCDS: CCDS48163

Canonical transcript exons

ENST00000371125 — 2 exons

Exon	Start	End
ENSE00001454398	126820659	126821786
ENSE00001454399	126819729	126819863

Expression profiles

Bgee: expression breadth broad, 50 present calls, max score 80.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2941 / max 197.9882, expressed in 20 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197513	0.2222	16
197514	0.0506	11
197512	0.0213	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	80.34	gold quality
left ventricle myocardium	UBERON:0006566	80.34	gold quality
vastus lateralis	UBERON:0001379	73.65	gold quality
quadriceps femoris	UBERON:0001377	72.78	gold quality
cardiac atrium	UBERON:0002081	69.58	gold quality
right atrium auricular region	UBERON:0006631	69.07	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	68.76	gold quality
body of tongue	UBERON:0011876	68.15	gold quality
tibialis anterior	UBERON:0001385	67.95	silver quality
nasal cavity epithelium	UBERON:0005384	64.99	gold quality
tongue	UBERON:0001723	64.25	gold quality
deltoid	UBERON:0001476	63.63	gold quality
kidney epithelium	UBERON:0004819	63.49	gold quality
skeletal muscle tissue	UBERON:0001134	62.45	gold quality
muscle tissue	UBERON:0002385	62.28	gold quality
heart right ventricle	UBERON:0002080	62.07	gold quality
biceps brachii	UBERON:0001507	62.04	gold quality
superior surface of tongue	UBERON:0007371	60.57	gold quality
cerebellar vermis	UBERON:0004720	59.64	silver quality
lower lobe of lung	UBERON:0008949	59.54	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	59.13	gold quality
pancreatic ductal cell	CL:0002079	58.21	silver quality
pons	UBERON:0000988	57.00	gold quality
epithelial cell of pancreas	CL:0000083	54.43	gold quality
superior vestibular nucleus	UBERON:0007227	53.99	gold quality
subthalamic nucleus	UBERON:0001906	53.94	gold quality
dorsal plus ventral thalamus	UBERON:0001897	53.79	gold quality
cardia of stomach	UBERON:0001162	53.69	gold quality
saphenous vein	UBERON:0007318	53.53	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting PRR32, 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-3925-3P	100.00	69.95	1237
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4422	99.72	72.07	2908
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
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4473	98.89	69.10	652
HSA-MIR-624-3P	98.37	67.06	1067

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr32	ENSMUSG00000037086
rattus_norvegicus	Prr32	ENSRNOG00000049388

Protein

Protein identifiers

Proline-rich protein 32 — B1ATL7 (reviewed: B1ATL7)

All UniProt accessions (1): B1ATL7

RefSeq proteins (1): NP_001116188* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027891	DUF4645	Family

Pfam: PF15488

UniProt features (4 total): sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B1ATL7-F1	49.41	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 39 (showing top): LEIN_CHOROID_PLEXUS_MARKERS, chrXq25, BAKKER_FOXO3_TARGETS_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR607, MIR548E_5P, MIR3671, MIR4728_5P, MIR6785_5P, MIR4422, MIR149_3P, MIR6883_5P, MIR6832_3P, MIR4671_3P, MIR3925_3P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR32	MCTP1	Q6DN14	526
PRR32	ACTRT1	Q8TDG2	523
PRR32	OR10P1	Q8NGE3	505
PRR32	GLB1L2	Q8IW92	502
PRR32	SBK3	P0C264	479
PRR32	SPANXN4	Q5MJ08	478
PRR32	SELENOF	O60613	471
PRR32	LRRC23	Q53EV4	465
PRR32	RD3L	P0DJH9	447
PRR32	ZNF516	Q92618	444
PRR32	DNALI1	O14645	424
PRR32	SMCO1	Q147U7	419
PRR32	RBM11	P57052	412
PRR32	COL4A6	Q14031	404
PRR32	DCAF12L1	Q5VU92	400

IntAct

13 interactions, top by confidence:

A	B	Type	Score
PRR32	YTHDF1	psi-mi:“MI:0915”(physical association)	0.560
PRR32	DTX2	psi-mi:“MI:0915”(physical association)	0.560
PRR32	HNRNPF	psi-mi:“MI:0915”(physical association)	0.560
PRR32	EFEMP2	psi-mi:“MI:0915”(physical association)	0.560
YTHDF1	PRR32	psi-mi:“MI:0915”(physical association)	0.000
DTX2	PRR32	psi-mi:“MI:0915”(physical association)	0.000
EFEMP2	PRR32	psi-mi:“MI:0915”(physical association)	0.000
HNRNPF	PRR32	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): PRR32 (Two-hybrid), PRR32 (Two-hybrid), PRR32 (Two-hybrid), PRR32 (Two-hybrid), PRR32 (Positive Genetic), PRR32 (Affinity Capture-MS)

ESM2 similar proteins: A2AFE9, A2X0Q6, A3A2Z8, A5PJK7, B1ATL7, C7IW64, O65685, O94602, P03413, P11821, P38128, P80074, Q01196, Q03347, Q08775, Q0V9R0, Q10108, Q13761, Q2HRB6, Q5R476, Q5UQP5, Q63046, Q66J97, Q6AWY2, Q6F2E2, Q6NRV8, Q6PF39, Q6ZNA4, Q7L0R7, Q84JP1, Q8CFA7, Q8LFU0, Q8VY64, Q90ZT7, Q93ZH2, Q945M9, Q99ML9, Q9D1Z2, Q9E6P2, Q9FGD6

Diamond homologs: A2AFE9, A5PJK7, B1ATL7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

203 predictions. Top by Δscore:

Variant	Effect	Δscore
X:126819862:GT:G	donor_gain	1.0000
X:126820656:A:AG	acceptor_gain	1.0000
X:126820657:A:G	acceptor_gain	1.0000
X:126819859:AACGT:A	donor_gain	0.9900
X:126819860:ACGT:A	donor_gain	0.9900
X:126819863:TG:T	donor_loss	0.9900
X:126819864:G:GA	donor_loss	0.9900
X:126819864:G:GG	donor_gain	0.9900
X:126819865:T:TC	donor_loss	0.9900
X:126819866:AAGT:A	donor_loss	0.9900
X:126819867:AGTA:A	donor_loss	0.9900
X:126820653:T:TA	acceptor_gain	0.9900
X:126819861:CGT:C	donor_gain	0.9800
X:126819862:GTG:G	donor_gain	0.9800
X:126819863:TGT:T	donor_gain	0.9800
X:126819864:GTA:G	donor_gain	0.9800
X:126820658:G:GG	acceptor_gain	0.9800
X:126819819:A:T	donor_gain	0.9700
X:126820658:GC:G	acceptor_gain	0.9600
X:126820658:GCCTT:G	acceptor_gain	0.9500
X:126820306:GA:G	donor_gain	0.9400
X:126820657:AGCCT:A	acceptor_loss	0.9400
X:126820658:GCC:G	acceptor_gain	0.9400
X:126820662:T:A	acceptor_gain	0.9300
X:126819818:G:GT	donor_gain	0.9200
X:126820647:T:A	acceptor_gain	0.9100
X:126820653:TGCAA:T	acceptor_gain	0.8900
X:126820654:GCAAG:G	acceptor_gain	0.8900
X:126820655:CAAGC:C	acceptor_gain	0.8900
X:126820343:GCTG:G	donor_gain	0.8800

AlphaMissense

1931 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:126821275:T:C	F213L	0.914
X:126821277:C:A	F213L	0.914
X:126821277:C:G	F213L	0.914
X:126821431:T:C	F265L	0.852
X:126821433:T:A	F265L	0.852
X:126821433:T:G	F265L	0.852
X:126821401:T:C	F255L	0.839
X:126821403:C:A	F255L	0.839
X:126821403:C:G	F255L	0.839
X:126821410:T:C	F258L	0.809
X:126821412:T:A	F258L	0.809
X:126821412:T:G	F258L	0.809
X:126821377:T:C	F247L	0.791
X:126821379:C:A	F247L	0.791
X:126821379:C:G	F247L	0.791
X:126821473:T:C	F279L	0.790
X:126821475:T:A	F279L	0.790
X:126821475:T:G	F279L	0.790
X:126821276:T:G	F213C	0.742
X:126821482:T:C	F282L	0.705
X:126821484:C:A	F282L	0.705
X:126821484:C:G	F282L	0.705
X:126821149:T:C	F171L	0.704
X:126821151:T:A	F171L	0.704
X:126821151:T:G	F171L	0.704
X:126821146:T:C	F170L	0.701
X:126821148:C:A	F170L	0.701
X:126821148:C:G	F170L	0.701
X:126821217:G:A	M193I	0.696
X:126821217:G:C	M193I	0.696

dbSNP variants (sampled 300 via entrez): RS1002672535 (X:126818568 G>A), RS1002724736 (X:126818895 C>A), RS1003733665 (X:126820748 T>C), RS1004138935 (X:126819632 C>T), RS1004384722 (X:126818377 G>C), RS1004685214 (X:126821819 G>A), RS1004740988 (X:126822066 G>A), RS1006060581 (X:126821017 A>C), RS1007307030 (X:126819314 G>A), RS1008192910 (X:126821420 T>C), RS1008260895 (X:126821114 G>A), RS1008612259 (X:126818143 G>A), RS1011788682 (X:126819201 G>A), RS1012198581 (X:126821918 T>A), RS1014751319 (X:126822083 T>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

0 associations (top):

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
sodium arsenite	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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