PRR27

Summary

PRR27 (proline rich 27, HGNC:33193) is a protein-coding gene on chromosome 4q13.3, encoding Proline-rich protein 27 (Q6MZM9).

Located in extracellular exosome.

Source: NCBI Gene 401137 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_214711

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33193
Approved symbol	PRR27
Name	proline rich 27
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187533
Ensembl biotype	protein_coding
Entrez	401137

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000344526, ENST00000502294, ENST00000502441, ENST00000509633, ENST00000512173

RefSeq mRNA: 1 — MANE Select: NM_214711 NM_214711

CCDS: CCDS3535

Canonical transcript exons

ENST00000344526 — 5 exons

Exon	Start	End
ENSE00001399806	70162695	70166609
ENSE00001547212	70154237	70154426
ENSE00003500115	70156054	70156077
ENSE00003518258	70161586	70161630
ENSE00003641958	70158328	70158900

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 78.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 12.5765 / max 14854.7438, expressed in 15 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47884	11.1172	9
47883	0.8832	4
47882	0.2916	4
47886	0.0903	3
47892	0.0621	6
47885	0.0551	3
47893	0.0438	5
47891	0.0174	3
47890	0.0159	3

Top tissues by expression

118 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	78.26	gold quality
saliva-secreting gland	UBERON:0001044	69.82	gold quality
minor salivary gland	UBERON:0001830	66.88	gold quality
testis	UBERON:0000473	61.56	gold quality
left testis	UBERON:0004533	61.09	gold quality
right testis	UBERON:0004534	59.92	gold quality
tonsil	UBERON:0002372	59.69	gold quality
placenta	UBERON:0001987	48.45	gold quality
bone marrow cell	CL:0002092	48.35	gold quality
bone marrow	UBERON:0002371	47.41	gold quality
skeletal muscle tissue	UBERON:0001134	43.14	silver quality
ventricular zone	UBERON:0003053	40.28	silver quality
muscle tissue	UBERON:0002385	39.33	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	39.10	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.15	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.38	gold quality
urinary bladder	UBERON:0001255	34.99	gold quality
monocyte	CL:0000576	34.86	gold quality
leukocyte	CL:0000738	34.20	gold quality
duodenum	UBERON:0002114	32.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
blood	UBERON:0000178	30.77	gold quality
primary visual cortex	UBERON:0002436	30.04	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
islet of Langerhans	UBERON:0000006	29.74	silver quality
right uterine tube	UBERON:0001302	29.66	gold quality
pancreas	UBERON:0001264	28.94	gold quality
muscle of leg	UBERON:0001383	28.93	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

183 targeting PRR27, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-371B-5P	99.99	75.34	4759
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-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr27	ENSMUSG00000002240

Protein

Protein identifiers

Proline-rich protein 27 — Q6MZM9 (reviewed: Q6MZM9)

All UniProt accessions (3): D6RGD6, H0Y8Q8, Q6MZM9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

RefSeq proteins (1): NP_999876* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033533	PRR27	Family

UniProt features (7 total): sequence variant 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6MZM9-F1	54.70	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 46 (showing top): chr4q13, CHAF1B_TARGET_GENES, HMGA1_TARGET_GENES, SNAI1_TARGET_GENES, MIR153_5P, MIR8485, MIR616_5P, MIR371B_5P, MIR373_5P, MIR651_3P, MIR4262, MIR4698, MIR6809_3P, MIR181A_5P_MIR181B_5P, MIR181D_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): extracellular exosome (GO:0070062), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR27	C4orf36	Q96KX1	630
PRR27	STATH	P02808	573
PRR27	FDCSP	Q8NFU4	570
PRR27	CABS1	Q96KC9	543
PRR27	ZG16B	Q96DA0	540
PRR27	ODAM	A1E959	507
PRR27	CFAP299	Q6V702	462
PRR27	CST1	P01037	430
PRR27	IGKV2-28	A0A075B6P5	419
PRR27	KRT83	P78385	394
PRR27	CSN1S1	P47710	380
PRR27	ODAPH	Q17RF5	376
PRR27	NSUN5	Q96P11	358
PRR27	PRB3	Q04118	352
PRR27	CST5	P28325	348

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PRR27	VWA8	psi-mi:“MI:0914”(association)	0.350
TIMM10	IGLL5	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): NUDT12 (Affinity Capture-MS), IDE (Affinity Capture-MS), CACNG6 (Affinity Capture-MS), SQSTM1 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), PITRM1 (Affinity Capture-MS), PSMG4 (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), LONP1 (Affinity Capture-MS), FAM115C (Affinity Capture-MS), ANKRD40 (Affinity Capture-MS), UBASH3B (Affinity Capture-MS), PSMG3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U5GHH9, A0A2H4S6M4, A6ZZG1, A7RJ13, B3A0P1, B3A0Q2, C6UYI3, D2K835, G1UB63, J4WMI6, O24006, O84462, O94426, P02674, P04672, P05995, P08672, P08674, P08675, P0DJ88, P0DJ89, P0DRJ4, P11994, P13673, P14328, P18169, P18170, P58454, P83059, P9WG30, P9WG31, Q04433, Q09180, Q23933, Q26264, Q42626, Q42627, Q43402, Q54KD5, Q54M35

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1036 predictions. Top by Δscore:

Variant	Effect	Δscore
4:70156811:G:GT	donor_gain	0.9900
4:70158899:AGGTA:A	donor_loss	0.9900
4:70158900:GGTA:G	donor_loss	0.9900
4:70158902:T:A	donor_loss	0.9900
4:70152138:G:GA	donor_loss	0.9700
4:70155333:TGGCA:T	donor_gain	0.9700
4:70158839:C:G	donor_gain	0.9700
4:70152139:T:A	donor_loss	0.9600
4:70155334:G:GA	donor_gain	0.9600
4:70158901:G:GG	donor_gain	0.9600
4:70156052:A:AG	acceptor_gain	0.9500
4:70156053:G:GG	acceptor_gain	0.9500
4:70158422:A:G	donor_gain	0.9500
4:70162805:T:TA	donor_gain	0.9500
4:70162806:A:AA	donor_gain	0.9500
4:70156053:G:C	acceptor_gain	0.9300
4:70152138:G:GG	donor_gain	0.8900
4:70155356:GTT:G	donor_gain	0.8900
4:70158418:G:GG	donor_gain	0.8900
4:70158464:GGT:G	donor_gain	0.8900
4:70162693:A:AG	acceptor_gain	0.8900
4:70162694:G:GG	acceptor_gain	0.8900
4:70158417:A:AG	donor_gain	0.8800
4:70158899:AG:A	donor_gain	0.8800
4:70158900:GG:G	donor_gain	0.8800
4:70162689:TTTCA:T	acceptor_loss	0.8600
4:70162690:TTCA:T	acceptor_loss	0.8600
4:70162691:TCAGA:T	acceptor_loss	0.8600
4:70162692:CAGA:C	acceptor_loss	0.8600
4:70162693:AGA:A	acceptor_loss	0.8600

AlphaMissense

1378 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:70154397:T:C	C8R	0.981
4:70154391:T:A	W6R	0.979
4:70154391:T:C	W6R	0.979
4:70158483:G:C	W77C	0.977
4:70158483:G:T	W77C	0.977
4:70154406:T:C	C11R	0.973
4:70154401:T:A	I9N	0.963
4:70158481:T:A	W77R	0.955
4:70158481:T:C	W77R	0.955
4:70154410:T:A	V12D	0.945
4:70158529:T:C	F93L	0.943
4:70158531:T:A	F93L	0.943
4:70158531:T:G	F93L	0.943
4:70154413:C:A	A13D	0.931
4:70154395:C:A	A7D	0.930
4:70154399:C:G	C8W	0.922
4:70154415:T:C	F14L	0.922
4:70154417:T:A	F14L	0.922
4:70154417:T:G	F14L	0.922
4:70154398:G:A	C8Y	0.918
4:70158485:T:C	I78T	0.913
4:70154386:T:A	L4H	0.912
4:70154389:T:A	L5H	0.909
4:70154404:T:A	V10E	0.901
4:70154394:G:C	A7P	0.897
4:70158530:T:G	F93C	0.885
4:70154381:G:C	K2N	0.878
4:70154381:G:T	K2N	0.878
4:70158369:T:A	N39K	0.875
4:70158369:T:G	N39K	0.875

dbSNP variants (sampled 300 via entrez): RS1000050339 (4:70154703 C>A), RS1000218659 (4:70157538 GA>G), RS1000346997 (4:70163588 A>G), RS1000382811 (4:70163311 C>G,T), RS1000654272 (4:70157357 T>C), RS1000783289 (4:70153347 G>A,C,T), RS1000849262 (4:70154614 G>A), RS1000902576 (4:70158818 C>A,T), RS1001069915 (4:70153021 C>A,G), RS1001167223 (4:70164120 C>T), RS1001480071 (4:70154341 A>C,G), RS1001513866 (4:70164384 T>C), RS1001518110 (4:70154095 T>C), RS10015981 (4:70155719 G>A,C), RS1001671121 (4:70159613 C>A,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Catechin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Valproic Acid	decreases methylation	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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