PRR35

Summary

PRR35 (proline rich 35, HGNC:14139) is a protein-coding gene on chromosome 16p13.3, encoding Proline-rich protein 35 (P0CG20).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 119 total — 1 pathogenic
• MANE Select transcript: NM_145270

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14139
Approved symbol	PRR35
Name	proline rich 35
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000161992
Ensembl biotype	protein_coding
Entrez	146325

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000409413, ENST00000870054, ENST00000870055, ENST00000870056, ENST00000870057, ENST00000913999

RefSeq mRNA: 1 — MANE Select: NM_145270 NM_145270

CCDS: CCDS45365

Canonical transcript exons

ENST00000409413 — 3 exons

Exon	Start	End
ENSE00001061886	563256	564376
ENSE00001118536	560394	560661
ENSE00001585641	564674	565529

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 95.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1209 / max 50.1750, expressed in 25 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151941	0.0394	9
151942	0.0387	8
151940	0.0325	7
151939	0.0103	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	95.51	gold quality
cerebellar cortex	UBERON:0002129	95.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.49	gold quality
cerebellum	UBERON:0002037	94.22	gold quality
cerebellar vermis	UBERON:0004720	74.51	silver quality
adult mammalian kidney	UBERON:0000082	70.89	gold quality
metanephros cortex	UBERON:0010533	67.32	gold quality
kidney	UBERON:0002113	60.68	gold quality
upper leg skin	UBERON:0004262	60.35	silver quality
metanephros	UBERON:0000081	59.35	gold quality
cortex of kidney	UBERON:0001225	54.52	gold quality
cartilage tissue	UBERON:0002418	53.29	gold quality
tendon of biceps brachii	UBERON:0008188	52.70	gold quality
body of pancreas	UBERON:0001150	52.51	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	50.24	gold quality
right testis	UBERON:0004534	50.15	gold quality
spinal cord	UBERON:0002240	49.30	gold quality
lower esophagus mucosa	UBERON:0035834	49.21	gold quality
bone marrow cell	CL:0002092	48.56	gold quality
left testis	UBERON:0004533	48.51	gold quality
buccal mucosa cell	CL:0002336	48.16	gold quality
testis	UBERON:0000473	47.46	gold quality
nipple	UBERON:0002030	47.30	gold quality
deltoid	UBERON:0001476	46.17	gold quality
adult organism	UBERON:0007023	44.73	gold quality
amniotic fluid	UBERON:0000173	44.67	gold quality
pancreas	UBERON:0001264	43.76	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
vastus lateralis	UBERON:0001379	43.21	gold quality
skin of hip	UBERON:0001554	43.20	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting PRR35, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	prr35	ENSDARG00000087663
mus_musculus	Prr35	ENSMUSG00000025727
rattus_norvegicus	Prr35	ENSRNOG00000020212

Paralogs (2): ZNF750 (ENSG00000141579), NHLRC4 (ENSG00000257108)

Protein

Protein identifiers

Proline-rich protein 35 — P0CG20 (reviewed: P0CG20)

Alternative names: Uncharacterized protein RJD1

All UniProt accessions (1): P0CG20

RefSeq proteins (1): NP_660313* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039064	ZNF750_Znf	Domain
IPR039363	ZNF750	Family

Pfam: PF15269

UniProt features (10 total): compositionally biased region 5, region of interest 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0CG20-F1	50.00	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): CAGCTG_AP4_Q5, MYOD_01, CDPCR3HD_01, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, SMAD4_Q6, CDPCR1_01, AR_Q6, RYBP_TARGET_GENES, DESCARTES_FETAL_CEREBELLUM_INHIBITORY_INTERNEURONS, DESCARTES_FETAL_KIDNEY_URETERIC_BUD_CELLS, DESCARTES_FETAL_PANCREAS_ACINAR_CELLS, FOXM1_01, GSE2706_UNSTIM_VS_2H_LPS_AND_R848_DC_UP, GSE29614_CTRL_VS_DAY3_TIV_FLU_VACCINE_PBMC_DN, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP

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

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR35	OR51A4	Q8NGJ6	700
PRR35	OR51L1	Q8NGJ5	697
PRR35	OR52J3	Q8NH60	694
PRR35	KBTBD12	Q3ZCT8	676
PRR35	OR51A2	Q8NGJ7	669
PRR35	RRP36	Q96EU6	648
PRR35	SPMIP7	A4D263	616
PRR35	TOGARAM1	Q9Y4F4	612
PRR35	TRAPPC6B	Q86SZ2	604
PRR35	KLHDC8B	Q8IXV7	597
PRR35	IHO1	Q8IYA8	592
PRR35	KCNG3	Q8TAE7	582
PRR35	SIPA1L2	Q9P2F8	576
PRR35	VWC2	Q2TAL6	575
PRR35	PKDCC	Q504Y2	565

IntAct

229 interactions, top by confidence:

A	B	Type	Score
PRR35	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
PRR35	ZMYND12	psi-mi:“MI:0915”(physical association)	0.560
PRR35	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
PRR35	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
PRR35	APPL2	psi-mi:“MI:0915”(physical association)	0.560
PRR35	MAGED1	psi-mi:“MI:0915”(physical association)	0.560
PRR35	JUP	psi-mi:“MI:0915”(physical association)	0.560
PRR35	PRR20D	psi-mi:“MI:0915”(physical association)	0.560
PRR35	TTC19	psi-mi:“MI:0915”(physical association)	0.560
PRR35	UBXN11	psi-mi:“MI:0915”(physical association)	0.560
PRR35	MKRN3	psi-mi:“MI:0915”(physical association)	0.560
PRR35	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.560
CRX	PRR35	psi-mi:“MI:0915”(physical association)	0.560
PRR35	PPP1R13B	psi-mi:“MI:0915”(physical association)	0.560
	PRR35	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	PRR35	psi-mi:“MI:0915”(physical association)	0.560
PRR35	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
PRR35	KRT31	psi-mi:“MI:0915”(physical association)	0.560
PRR35	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
PRR35	BIRC7	psi-mi:“MI:0915”(physical association)	0.560
PRR35	BEGAIN	psi-mi:“MI:0915”(physical association)	0.560
PRR35	UBASH3B	psi-mi:“MI:0915”(physical association)	0.560
PRR35	PPIL1	psi-mi:“MI:0915”(physical association)	0.560
PRR35	USP54	psi-mi:“MI:0915”(physical association)	0.560
KRT34	PRR35	psi-mi:“MI:0915”(physical association)	0.560
PRR35	TLE5	psi-mi:“MI:0915”(physical association)	0.560
PRR35	EXOC8	psi-mi:“MI:0915”(physical association)	0.560
PRR35	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
PRR35	KRT35	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (82): PRR35 (Affinity Capture-RNA), PRR35 (Affinity Capture-MS), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid), PRR35 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: A2VDR9, P0CG20, Q28BT7, Q32MQ0, Q32N19, Q568E2, Q8BH05

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	11	15.3×	9e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	102
Likely benign	14
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	Pathogenic

SpliceAI

786 predictions. Top by Δscore:

Variant	Effect	Δscore
16:560657:CGCAG:C	donor_loss	0.9900
16:560659:CAG:C	donor_loss	0.9900
16:560660:AGG:A	donor_loss	0.9900
16:560661:GGTAG:G	donor_loss	0.9900
16:560662:G:GA	donor_loss	0.9900
16:560663:T:G	donor_loss	0.9900
16:563079:G:GT	donor_gain	0.9900
16:563462:G:GT	donor_gain	0.9900
16:563481:G:GT	donor_gain	0.9900
16:560565:TCC:T	donor_gain	0.9800
16:563465:G:GG	donor_gain	0.9800
16:564672:A:AG	acceptor_gain	0.9800
16:564673:G:GG	acceptor_gain	0.9800
16:560483:G:T	donor_gain	0.9700
16:560523:G:GT	donor_gain	0.9700
16:560483:G:GT	donor_gain	0.9600
16:564673:GCCT:G	acceptor_gain	0.9600
16:561682:T:TA	donor_gain	0.9500
16:563079:G:T	donor_gain	0.9500
16:560601:G:GT	donor_gain	0.9400
16:560601:G:T	donor_gain	0.9400
16:563092:G:GT	donor_gain	0.9400
16:563105:G:GT	donor_gain	0.9400
16:563604:G:GT	donor_gain	0.9300
16:564673:GC:G	acceptor_gain	0.9300
16:564673:GCC:G	acceptor_gain	0.9300
16:563092:G:T	donor_gain	0.9200
16:563250:CTACA:C	acceptor_loss	0.9200
16:563251:TACAG:T	acceptor_loss	0.9200
16:563252:ACAG:A	acceptor_loss	0.9200

AlphaMissense

3588 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:563412:T:C	F40L	1.000
16:563414:C:A	F40L	1.000
16:563414:C:G	F40L	1.000
16:563418:T:C	C42R	1.000
16:563374:T:C	I27T	0.999
16:563409:T:A	C39S	0.999
16:563409:T:C	C39R	0.999
16:563410:G:C	C39S	0.999
16:563411:C:G	C39W	0.999
16:563413:T:G	F40C	0.999
16:563418:T:A	C42S	0.999
16:563419:G:C	C42S	0.999
16:563420:C:G	C42W	0.999
16:563424:T:C	F44L	0.999
16:563426:C:A	F44L	0.999
16:563426:C:G	F44L	0.999
16:563430:T:C	C46R	0.999
16:563431:G:A	C46Y	0.999
16:563432:C:G	C46W	0.999
16:563441:G:C	K49N	0.999
16:563441:G:T	K49N	0.999
16:563445:C:G	H51D	0.999
16:563447:C:A	H51Q	0.999
16:563447:C:G	H51Q	0.999
16:563457:C:G	H55D	0.999
16:563459:C:A	H55Q	0.999
16:563459:C:G	H55Q	0.999
16:563367:C:G	H25D	0.998
16:563374:T:A	I27N	0.998
16:563413:T:C	F40S	0.998

dbSNP variants (sampled 300 via entrez): RS1000534543 (16:558398 T>C), RS1000902641 (16:557937 T>G), RS1001073010 (16:562539 A>G), RS1001145577 (16:562873 T>C), RS1001632883 (16:558345 C>A,T), RS1001696978 (16:558176 G>A), RS1001752183 (16:558778 C>G), RS1002264084 (16:562036 G>A), RS1002368237 (16:565852 C>T), RS1002601919 (16:562247 G>A,C,T), RS1002843551 (16:563018 C>A), RS1003192949 (16:561452 G>A,T), RS1003390041 (16:563181 T>C,G), RS1003438396 (16:558093 CAAGCAGGTGGGTCA>C), RS1003611940 (16:562411 G>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

1 associations (top):

Study	Trait	p-value
GCST012488_13	L1-L4 bone mineral density x serum urate levels interaction	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007701	spine bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases methylation	1

Clinical trials (associated diseases)

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