PRR29

Summary

PRR29 (proline rich 29, HGNC:25673) is a protein-coding gene on chromosome 17q23.3, encoding Proline-rich protein 29 (P0C7W0).

At a glance

• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_001164257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25673
Approved symbol	PRR29
Name	proline rich 29
Location	17q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11724, DKFZp761M2312
Ensembl gene	ENSG00000224383
Ensembl biotype	protein_coding
Entrez	92340

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 retained_intron

ENST00000225760, ENST00000412177, ENST00000425164, ENST00000577953, ENST00000579184, ENST00000579222, ENST00000580752, ENST00000582530, ENST00000582540, ENST00000583891

RefSeq mRNA: 4 — MANE Select: NM_001164257 NM_001164257, NM_001191029, NM_001191030, NM_001191031

CCDS: CCDS54157, CCDS54158, CCDS54159, CCDS58586

Canonical transcript exons

ENST00000412177 — 6 exons

Exon	Start	End
ENSE00001768163	63998707	63998782
ENSE00002213169	64001733	64004305
ENSE00003533500	63998968	63999074
ENSE00003586019	64001467	64001537
ENSE00003597695	64001084	64001310
ENSE00003683549	63998351	63998424

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 99.26.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5432 / max 37.4401, expressed in 224 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162241	0.5432	224

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.26	gold quality
bronchial epithelial cell	CL:0002328	94.05	gold quality
bronchus	UBERON:0002185	93.39	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.31	gold quality
kidney epithelium	UBERON:0004819	89.64	gold quality
upper arm skin	UBERON:0004263	88.99	gold quality
pancreatic ductal cell	CL:0002079	88.63	silver quality
fallopian tube	UBERON:0003889	87.02	gold quality
buccal mucosa cell	CL:0002336	86.71	gold quality
epithelial cell of pancreas	CL:0000083	86.70	gold quality
left ventricle myocardium	UBERON:0006566	86.46	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.44	gold quality
tendon of biceps brachii	UBERON:0008188	86.37	silver quality
oviduct epithelium	UBERON:0004804	86.28	gold quality
epithelium of nasopharynx	UBERON:0001951	86.16	gold quality
myocardium	UBERON:0002349	85.71	gold quality
sperm	CL:0000019	85.59	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.06	gold quality
nasal cavity epithelium	UBERON:0005384	85.03	silver quality
mucosa of paranasal sinus	UBERON:0005030	82.96	gold quality
right lung	UBERON:0002167	82.93	gold quality
vena cava	UBERON:0004087	82.25	silver quality
nasal cavity mucosa	UBERON:0001826	81.98	gold quality
tibialis anterior	UBERON:0001385	81.24	silver quality
endothelial cell	CL:0000115	80.65	gold quality
superficial temporal artery	UBERON:0001614	80.48	gold quality
pituitary gland	UBERON:0000007	80.26	gold quality
granulocyte	CL:0000094	80.05	gold quality
adenohypophysis	UBERON:0002196	79.68	gold quality
deltoid	UBERON:0001476	79.27	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	13.09
E-ANND-3	yes	10.27
E-HCAD-30	no	95.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting PRR29, 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-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-5194	96.77	63.91	1021

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr29	ENSMUSG00000009210
rattus_norvegicus	Prr29	ENSRNOG00000060193

Protein

Protein identifiers

Proline-rich protein 29 — P0C7W0 (reviewed: P0C7W0)

All UniProt accessions (4): P0C7W0, J3KRF4, J3KRR4, J3QR92

Isoforms (4)

UniProt ID	Names	Canonical?
P0C7W0-1	1	yes
P0C7W0-2	2
P0C7W0-3	3
P0C7W0-4	4

RefSeq proteins (4): NP_001157729, NP_001177958, NP_001177959, NP_001177960 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027904	DUF4587	Domain
IPR038915	PRR29-like	Family

Pfam: PF15248

UniProt features (8 total): splice variant 4, chain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7W0-F1	62.54	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): HAN_SATB1_TARGETS_DN, WESTON_VEGFA_TARGETS, WESTON_VEGFA_TARGETS_3HR, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr17q23, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, FOXN3_TARGET_GENES, ZNF92_TARGET_GENES, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, MIR6127, MIR6129, MIR6133, MIR4510, MIR6130, MIR769_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR29	LRRC20	Q8TCA0	507
PRR29	QTRT2	Q9H974	476
PRR29	HAGHL	Q6PII5	447
PRR29	SERF2	P84101	433
PRR29	AKAP19	P0C876	419
PRR29	MPIG6B	O95866	368
PRR29	RUFY1	Q96T51	356
PRR29	HLF	Q16534	321
PRR29	BIN2	Q9UBW5	321
PRR29	ACRBP	Q8NEB7	317
PRR29	GNG11	P50152	290
PRR29	NPNT	Q6UXI9	269
PRR29	RAP1GAP	P47736	268
PRR29	LPAR5	Q9H1C0	266
PRR29	PTCRA	Q6ISU1	264

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2A9G7, A2RV66, A6NKF2, A6PWV5, A8MQ03, B1ARI9, O13161, O35668, O54943, O70361, P0C7W0, P15257, P22361, P54256, P56645, P56931, P70326, P87377, Q14209, Q28HY0, Q2KHT9, Q4JF29, Q4V8F1, Q5I2P1, Q5RD34, Q5VUB5, Q66JL1, Q6AW68, Q6BCB4, Q6DGF9, Q6UWV7, Q75N33, Q75NY9, Q7L0R7, Q8AV66, Q8BHE1, Q8BXJ2, Q8CJE2, Q8K3T2, Q8K560

Diamond homologs: B1ARI9, P0C7W0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1006 predictions. Top by Δscore:

Variant	Effect	Δscore
17:64001073:A:AG	acceptor_gain	1.0000
17:64001074:C:G	acceptor_gain	1.0000
17:64001079:CCCA:C	acceptor_loss	1.0000
17:64001080:CCAG:C	acceptor_loss	1.0000
17:64001081:CAGGT:C	acceptor_loss	1.0000
17:64001082:A:AC	acceptor_loss	1.0000
17:64001083:G:GT	acceptor_loss	1.0000
17:64001135:G:GT	donor_gain	1.0000
17:64001143:G:GT	donor_gain	1.0000
17:64001151:GGCCT:G	donor_gain	1.0000
17:64001152:GCCT:G	donor_gain	1.0000
17:64001264:G:GT	donor_gain	1.0000
17:64001306:G:T	donor_gain	1.0000
17:64001306:GAGGT:G	donor_gain	1.0000
17:64001309:GT:G	donor_gain	1.0000
17:64002926:C:CC	acceptor_gain	1.0000
17:64003961:GGCT:G	acceptor_gain	1.0000
17:64003962:GCT:G	acceptor_gain	1.0000
17:64003963:CT:C	acceptor_gain	1.0000
17:64003963:CTC:C	acceptor_gain	1.0000
17:64003964:TCT:T	acceptor_gain	1.0000
17:64003964:TCTGC:T	acceptor_loss	1.0000
17:64003965:C:CC	acceptor_gain	1.0000
17:64003965:CTGC:C	acceptor_loss	1.0000
17:63998549:G:GT	donor_gain	0.9900
17:63998564:G:GT	donor_gain	0.9900
17:63998966:A:AG	acceptor_gain	0.9900
17:63998967:G:GG	acceptor_gain	0.9900
17:63999073:AGG:A	donor_loss	0.9900
17:64001075:A:AG	acceptor_gain	0.9900

AlphaMissense

1203 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:64001495:A:C	S167R	0.970
17:64001497:T:A	S167R	0.970
17:64001497:T:G	S167R	0.970
17:63998778:G:C	K44N	0.959
17:63998778:G:T	K44N	0.959
17:63998980:T:C	L50P	0.959
17:63998971:T:C	L47P	0.948
17:63999013:T:C	L61P	0.917
17:63998997:G:C	A56P	0.910
17:64001165:C:G	H109D	0.910
17:63998989:T:C	L53P	0.908
17:64001502:C:T	T169I	0.900
17:64001508:C:T	T171I	0.885
17:63998996:C:A	N55K	0.882
17:63998996:C:G	N55K	0.882
17:63999021:A:C	S64R	0.880
17:63999023:T:A	S64R	0.880
17:63999023:T:G	S64R	0.880
17:64001168:C:G	H110D	0.866
17:64001496:G:A	S167N	0.866
17:64001750:A:C	S187R	0.864
17:64001752:C:A	S187R	0.864
17:64001752:C:G	S187R	0.864
17:63998984:G:A	M51I	0.856
17:63998984:G:C	M51I	0.856
17:63998984:G:T	M51I	0.856
17:64001167:C:A	H109Q	0.854
17:64001167:C:G	H109Q	0.854
17:64001475:T:A	V160E	0.849
17:64001499:C:A	A168D	0.842

dbSNP variants (sampled 300 via entrez): RS1000648479 (17:63999304 G>A,T), RS1000751123 (17:63999666 A>T), RS1000904637 (17:64004537 A>G), RS1000949632 (17:64004251 C>T), RS1001128721 (17:63999795 G>A), RS1001480069 (17:63998544 G>A,C,T), RS1001720316 (17:63998297 C>A,G,T), RS1001754674 (17:63998648 G>A), RS1002022525 (17:64003310 GT>G), RS1002843530 (17:64002020 C>T), RS1003016588 (17:63997328 C>T), RS1003128064 (17:64000956 A>G), RS1003153829 (17:63997140 A>G), RS1003265800 (17:64000718 T>C,G), RS1004540442 (17:64004614 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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Niclosamide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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