PRR19

Summary

PRR19 (proline rich 19, HGNC:33728) is a protein-coding gene on chromosome 19q13.2, encoding Proline-rich protein 19 (A6NJB7). Promotes meiotic crossing over formation through its interaction with CNTD1 by participating in the crossover differentiation step of crossover-specific recombination intermediates.

Predicted to be involved in meiotic cell cycle. Predicted to be located in chromosome and nucleus.

Source: NCBI Gene 284338 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_199285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33728
Approved symbol	PRR19
Name	proline rich 19
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC70924
Ensembl gene	ENSG00000188368
Ensembl biotype	protein_coding
OMIM	621177
Entrez	284338

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000341747, ENST00000499536, ENST00000595750, ENST00000598490, ENST00000894985, ENST00000894986, ENST00000916535, ENST00000916536, ENST00000916537

RefSeq mRNA: 1 — MANE Select: NM_199285 NM_199285

CCDS: CCDS33036

Canonical transcript exons

ENST00000341747 — 3 exons

Exon	Start	End
ENSE00001379929	42309579	42310185
ENSE00001402273	42302132	42302503
ENSE00002321397	42310271	42310814

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 88.15.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9414 / max 28.8694, expressed in 533 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176141	0.8633	525
176142	0.0239	9
176143	0.0211	7
176144	0.0205	7
208842	0.0125	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.15	gold quality
left testis	UBERON:0004533	83.70	gold quality
right testis	UBERON:0004534	83.52	gold quality
left ventricle myocardium	UBERON:0006566	82.79	gold quality
kidney epithelium	UBERON:0004819	82.06	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.89	gold quality
testis	UBERON:0000473	80.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.60	gold quality
nasal cavity epithelium	UBERON:0005384	75.47	gold quality
cortical plate	UBERON:0005343	74.23	gold quality
sperm	CL:0000019	73.94	silver quality
epithelial cell of pancreas	CL:0000083	72.63	gold quality
ventricular zone	UBERON:0003053	72.21	gold quality
ganglionic eminence	UBERON:0004023	71.80	gold quality
myocardium	UBERON:0002349	71.70	gold quality
endothelial cell	CL:0000115	69.00	gold quality
putamen	UBERON:0001874	68.36	gold quality
vastus lateralis	UBERON:0001379	68.31	gold quality
prefrontal cortex	UBERON:0000451	68.28	gold quality
nucleus accumbens	UBERON:0001882	68.15	gold quality
quadriceps femoris	UBERON:0001377	68.00	gold quality
gingival epithelium	UBERON:0001949	67.85	gold quality
caudate nucleus	UBERON:0001873	67.19	gold quality
upper arm skin	UBERON:0004263	66.85	gold quality
tendon of biceps brachii	UBERON:0008188	66.37	gold quality
oocyte	CL:0000023	66.29	silver quality
superficial temporal artery	UBERON:0001614	66.18	gold quality
gingiva	UBERON:0001828	65.77	gold quality
secondary oocyte	CL:0000655	65.37	gold quality
stromal cell of endometrium	CL:0002255	65.22	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	9.23
E-ENAD-27	no	3.85
E-ANND-3	no	1.84

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr19	ENSMUSG00000058741
rattus_norvegicus	Prr19	ENSRNOG00000043154

Protein

Protein identifiers

Proline-rich protein 19 — A6NJB7 (reviewed: A6NJB7)

All UniProt accessions (2): A6NJB7, M0QXP7

UniProt curated annotations — full annotation on UniProt →

Function. Promotes meiotic crossing over formation through its interaction with CNTD1 by participating in the crossover differentiation step of crossover-specific recombination intermediates.

Subunit / interactions. Interacts with CNTD1.

Subcellular location. Nucleus. Chromosome.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NJB7-1	1	yes
A6NJB7-2	2

RefSeq proteins (1): NP_954979* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029355	Pro-rich_19	Family

Pfam: PF15455

UniProt features (9 total): region of interest 4, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NJB7-F1	53.19	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): GOBP_MEIOTIC_CELL_CYCLE, MIKKELSEN_MEF_ICP_WITH_H3K27ME3, SRC_UP.V1_DN, ZNF563_TARGET_GENES, GSE12003_4D_VS_8D_CULTURE_BM_PROGENITOR_UP, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_0.5H_ACT_CD4_TCELL_DN, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, chr19q13, GSE3920_IFNA_VS_IFNG_TREATED_ENDOTHELIAL_CELL_DN, GSE21546_UNSTIM_VS_ANTI_CD3_STIM_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_DN, GSE21546_WT_VS_SAP1A_KO_DP_THYMOCYTES_DN, GSE21927_UNTREATED_VS_GMCSF_IL6_TREATED_BONE_MARROW_UP, GSE25677_R848_VS_MPL_AND_R848_STIM_BCELL_UP, GSE34156_UNTREATED_VS_24H_TLR1_TLR2_LIGAND_TREATED_MONOCYTE_UP

GO Biological Process (1): meiotic cell cycle (GO:0051321)

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

GO Cellular Component (2): nucleus (GO:0005634), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR19	ANKRA2	Q9H9E1	826
PRR19	TMEM145	Q8NBT3	656
PRR19	RFXANK	O14593	650
PRR19	LRP2	P98164	639
PRR19	PAFAH1B3	Q15102	629
PRR19	C3orf70	A6NLC5	514
PRR19	CCDC73	Q6ZRK6	497
PRR19	CNTD1	Q8N815	477
PRR19	DEDD2	Q8WXF8	477
PRR19	ZNF607	Q96SK3	471
PRR19	ZNF574	Q6ZN55	447
PRR19	RNF212	Q495C1	432
PRR19	ANK1	P16157	423
PRR19	ANK3	Q12955	423
PRR19	ANK2	Q01484	423

IntAct

8 interactions, top by confidence:

A	B	Type	Score
MEOX2	PRR19	psi-mi:“MI:0915”(physical association)	0.560
KRT31	PRR19	psi-mi:“MI:0915”(physical association)	0.560
PRR19	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
PRR19	SERPINB8	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): PRR19 (Two-hybrid), PRR19 (Two-hybrid), PRR19 (Two-hybrid), PRR19 (Two-hybrid), PRR19 (Two-hybrid), PRR19 (Two-hybrid), PRR19 (Two-hybrid), CYSRT1 (Two-hybrid), PDCD6 (Two-hybrid), SERPINB8 (Affinity Capture-MS), HIBCH (Affinity Capture-MS), PRR19 (Negative Genetic), PRR19 (Two-hybrid), PRR19 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVZ6, A5D7I0, A6H7B4, A6NDZ8, A6NE82, A6NJ08, A6NJB7, A6NJI1, A6NL46, A6QP24, A8MUA0, A8MUI8, A8MV72, A8MX80, B2RW88, O94850, P0C6A0, P24097, P50617, Q0P5M0, Q0VD86, Q2KIL8, Q3B8N5, Q3SY00, Q3SYA9, Q3UN58, Q5BMD4, Q5JTZ5, Q5RBE4, Q5VZ46, Q66MI6, Q68US1, Q6GQV0, Q6PAC4, Q80TS7, Q80VY2, Q8BFY7, Q8BII1, Q8IXW0, Q8K2F3

Diamond homologs: A6NJB7, B2RW88, Q0P5M0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

699 predictions. Top by Δscore:

Variant	Effect	Δscore
19:42302230:A:AC	donor_gain	1.0000
19:42302231:C:CC	donor_gain	1.0000
19:42302263:T:TA	donor_gain	1.0000
19:42302500:GGAG:G	donor_gain	1.0000
19:42302501:GAG:G	donor_gain	1.0000
19:42302501:GAGG:G	donor_gain	1.0000
19:42302504:GTA:G	donor_loss	1.0000
19:42309570:A:AG	acceptor_gain	1.0000
19:42309571:T:G	acceptor_gain	1.0000
19:42309572:A:AG	acceptor_gain	1.0000
19:42309573:T:G	acceptor_gain	1.0000
19:42309577:A:AG	acceptor_gain	1.0000
19:42309577:A:AT	acceptor_loss	1.0000
19:42309578:G:GC	acceptor_gain	1.0000
19:42309578:GGA:G	acceptor_gain	1.0000
19:42309578:GGAC:G	acceptor_gain	1.0000
19:42309578:GGACA:G	acceptor_gain	1.0000
19:42302230:AC:A	donor_gain	0.9900
19:42302231:CC:C	donor_gain	0.9900
19:42302231:CCA:C	donor_gain	0.9900
19:42302504:G:GG	donor_gain	0.9900
19:42309577:AG:A	acceptor_gain	0.9900
19:42309578:GG:G	acceptor_gain	0.9900
19:42302240:T:TA	donor_gain	0.9800
19:42302260:ACGT:A	donor_gain	0.9800
19:42302261:CGTC:C	donor_gain	0.9800
19:42302482:G:T	donor_gain	0.9800
19:42302486:G:GT	donor_gain	0.9800
19:42307031:C:G	donor_gain	0.9800
19:42309576:CAGGA:C	acceptor_gain	0.9800

AlphaMissense

2269 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:42310717:T:C	F350L	0.990
19:42310719:T:A	F350L	0.990
19:42310719:T:G	F350L	0.990
19:42309775:T:A	I64K	0.989
19:42310526:T:C	L286S	0.989
19:42310711:T:A	W348R	0.989
19:42310711:T:C	W348R	0.989
19:42309829:A:T	K82I	0.987
19:42309830:A:C	K82N	0.985
19:42309830:A:T	K82N	0.985
19:42310516:T:C	F283L	0.985
19:42310518:T:A	F283L	0.985
19:42310518:T:G	F283L	0.985
19:42309775:T:C	I64T	0.984
19:42310065:T:C	F161L	0.983
19:42310067:C:A	F161L	0.983
19:42310067:C:G	F161L	0.983
19:42310529:A:T	K287I	0.983
19:42309775:T:G	I64R	0.981
19:42310537:T:A	W290R	0.980
19:42310537:T:C	W290R	0.980
19:42310713:G:C	W348C	0.979
19:42310713:G:T	W348C	0.979
19:42310718:T:C	F350S	0.979
19:42309814:T:C	F77S	0.977
19:42310117:T:C	L178S	0.977
19:42309850:T:C	L89P	0.976
19:42310530:A:C	K287N	0.976
19:42310530:A:T	K287N	0.976
19:42309792:A:C	S70R	0.974

dbSNP variants (sampled 300 via entrez): RS1000307575 (19:42306367 G>T), RS1001405277 (19:42302645 C>G), RS1001438251 (19:42303064 G>T), RS1001524274 (19:42311292 T>C), RS1001545733 (19:42306222 G>A), RS1001576546 (19:42304110 T>A), RS1001944551 (19:42307474 C>G), RS1001977158 (19:42307714 C>A,T), RS1001994172 (19:42304289 A>G), RS1002021369 (19:42311145 G>A), RS1002277888 (19:42301073 C>T), RS1002281246 (19:42304506 A>C,G), RS1002491495 (19:42301363 C>T), RS1002611111 (19:42307344 C>T), RS1003075628 (19:42304156 C>G,T)

Disease associations

OMIM: gene MIM:621177 | 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
Benzo(a)pyrene	decreases methylation, increases expression	2
aristolochic acid I	increases expression	1
sodium arsenite	decreases expression	1
entinostat	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amiodarone	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Rotenone	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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