PRR13

Summary

PRR13 (proline rich 13, HGNC:24528) is a protein-coding gene on chromosome 12q13.13, encoding Proline-rich protein 13 (Q9NZ81). Negatively regulates TSP1 expression at the level of transcription. It is a selective cancer dependency (DepMap: 36.3% of cell lines).

Predicted to be involved in DNA-templated transcription. Located in nucleoplasm.

Source: NCBI Gene 54458 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 23 total
• GTEx eGene: eQTL in 32 tissues, sQTL in 9 (q < 0.05)
• Cancer dependency (DepMap): dependent in 36.3% of screened cell lines
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 1.35 (unconstrained)
• MANE Select transcript: NM_018457

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24528
Approved symbol	PRR13
Name	proline rich 13
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23818, DKFZP564J157
Ensembl gene	ENSG00000205352
Ensembl biotype	protein_coding
OMIM	610459
Entrez	54458

Gene structure

Transcript identifiers

Ensembl transcripts: 49 — 44 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

MANE Select: ENST00000429243

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 2, TSL 3: 7, TSL 5: 1

ENST00000429243, ENST00000379786, ENST00000546581, ENST00000547368, ENST00000549068, ENST00000549135, ENST00000549581, ENST00000549740, ENST00000549924, ENST00000551003, ENST00000551365, ENST00000551945, ENST00000552846, ENST00000860096, ENST00000860097, ENST00000860098, ENST00000860099, ENST00000860100, ENST00000860101, ENST00000860102, ENST00000860103, ENST00000860104, ENST00000860105, ENST00000939162, ENST00000939163, ENST00000939164, ENST00000939165, ENST00000939166, ENST00000939167, ENST00000939168, ENST00000939169, ENST00000939170, ENST00000939171, ENST00000939172, ENST00000964979, ENST00000974932, ENST00000974933, ENST00001013019, ENST00001063734, ENST00001098078, ENST00001098079, ENST00001098080, ENST00001098081, ENST00001098082, ENST00001098083, ENST00001098084, ENST00001098085, ENST00001098086, ENST00001098087

RefSeq mRNA: 2 — MANE Select: NM_018457 NM_001005354, NM_018457

CCDS: CCDS31811, CCDS44899

Canonical transcript exons

ENST00000429243 — 4 exons

Exon	Start	End
ENSE00001482499	53441734	53441792
ENSE00002325671	53446015	53446638
ENSE00003591931	53442695	53442733
ENSE00003606245	53443391	53443773

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 93.2834 / max 1226.5717, expressed in 1828 samples.

Highest expression (Bgee): mucosa of transverse colon, duodenum, adult mammalian kidney, granulocyte, blood.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PRR13 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 32 tissues and its splicing (sQTL) in 9 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 41 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	4.5e-105	-0.48	12:53446172:C:G
Artery Aorta	eqtl	4.5e-89	-0.66	12:53446172:C:G
Thyroid	eqtl	4.2e-53	-0.41	12:53449760:C:A
Nerve Tibial	eqtl	1.3e-50	-0.30	12:53446172:C:G
Skin Sun Exposed Lower leg	eqtl	2.0e-44	-0.37	12:53446172:C:G
Skin Not Sun Exposed Suprapubic	eqtl	1.3e-39	-0.41	12:53446172:C:G
Adipose Subcutaneous	eqtl	9.1e-39	-0.31	12:53446172:C:G
Heart Atrial Appendage	eqtl	8.7e-37	-0.43	12:53446172:C:G
Esophagus Muscularis	eqtl	1.8e-35	-0.27	12:53446172:C:G
Heart Left Ventricle	eqtl	8.6e-32	-0.43	12:53446172:C:G
Colon Sigmoid	eqtl	1.6e-28	-0.34	12:53446172:C:G
Esophagus Gastroesophageal Junction	eqtl	2.0e-27	-0.30	12:53446172:C:G
Artery Coronary	eqtl	6.1e-20	-0.39	12:53446172:C:G
Testis	eqtl	3.5e-15	-0.31	12:53441159:G:A
Artery Aorta	sqtl	2.5e-14	+0.49	12:53446172:C:G
Brain Spinal cord cervical c-1	eqtl	2.8e-14	-0.54	12:53446172:C:G
Lung	eqtl	5.6e-14	-0.22	12:53446172:C:G
Adipose Visceral Omentum	eqtl	3.9e-12	-0.19	12:53446172:C:G
Cells Cultured fibroblasts	eqtl	1.4e-11	-0.18	12:53446601:T:C
Breast Mammary Tissue	eqtl	9.8e-09	-0.16	12:53446172:C:G

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
125762	74.8221	1825
125763	12.6017	1786
125761	2.2419	1420
125760	1.4519	534
125758	0.8501	308
125757	0.5306	206
125759	0.5196	151
125764	0.2034	96
125765	0.0621	15

Top tissues by expression

showing 100 of 134 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.48	gold quality
duodenum	UBERON:0002114	99.39	gold quality
adult mammalian kidney	UBERON:0000082	99.32	gold quality
granulocyte	CL:0000094	99.31	gold quality
blood	UBERON:0000178	99.21	gold quality
metanephros cortex	UBERON:0010533	99.12	gold quality
small intestine	UBERON:0002108	99.07	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.07	gold quality
rectum	UBERON:0001052	99.06	gold quality
cortex of kidney	UBERON:0001225	98.96	gold quality
leukocyte	CL:0000738	98.94	gold quality
bone marrow cell	CL:0002092	98.94	gold quality
transverse colon	UBERON:0001157	98.91	gold quality
monocyte	CL:0000576	98.90	gold quality
body of stomach	UBERON:0001161	98.90	gold quality
colonic epithelium	UBERON:0000397	98.86	gold quality
bone marrow	UBERON:0002371	98.82	gold quality
vermiform appendix	UBERON:0001154	98.78	gold quality
spleen	UBERON:0002106	98.78	gold quality
gall bladder	UBERON:0002110	98.78	gold quality
lymph node	UBERON:0000029	98.76	gold quality
right adrenal gland	UBERON:0001233	98.76	gold quality
right adrenal gland cortex	UBERON:0035827	98.71	gold quality
left adrenal gland	UBERON:0001234	98.64	gold quality
mucosa of stomach	UBERON:0001199	98.60	gold quality
right lung	UBERON:0002167	98.58	gold quality
islet of Langerhans	UBERON:0000006	98.57	gold quality
right uterine tube	UBERON:0001302	98.56	gold quality
fundus of stomach	UBERON:0001160	98.53	gold quality
left adrenal gland cortex	UBERON:0035825	98.53	gold quality
intestine	UBERON:0000160	98.44	gold quality
stomach	UBERON:0000945	98.42	gold quality
kidney	UBERON:0002113	98.37	gold quality
colon	UBERON:0001155	98.33	gold quality
adrenal gland	UBERON:0002369	98.33	gold quality
placenta	UBERON:0001987	98.23	gold quality
pancreas	UBERON:0001264	98.19	gold quality
prostate gland	UBERON:0002367	98.17	gold quality
upper lobe of left lung	UBERON:0008952	98.14	gold quality
fallopian tube	UBERON:0003889	98.13	gold quality
right lobe of thyroid gland	UBERON:0001119	98.06	gold quality
thyroid gland	UBERON:0002046	98.05	gold quality
left lobe of thyroid gland	UBERON:0001120	98.03	gold quality
urinary bladder	UBERON:0001255	98.01	gold quality
body of pancreas	UBERON:0001150	98.00	gold quality
left coronary artery	UBERON:0001626	98.00	gold quality
tonsil	UBERON:0002372	97.97	gold quality
adenohypophysis	UBERON:0002196	97.96	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.93	gold quality
substantia nigra	UBERON:0002038	97.92	gold quality
uterine cervix	UBERON:0000002	97.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.91	gold quality
prefrontal cortex	UBERON:0000451	97.89	gold quality
ectocervix	UBERON:0012249	97.89	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.89	gold quality
lower esophagus	UBERON:0013473	97.88	gold quality
thoracic mammary gland	UBERON:0005200	97.87	gold quality
adipose tissue	UBERON:0001013	97.86	gold quality
descending thoracic aorta	UBERON:0002345	97.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.85	gold quality
esophagus	UBERON:0001043	97.84	gold quality
popliteal artery	UBERON:0002250	97.83	gold quality
tibial artery	UBERON:0007610	97.83	gold quality
hypothalamus	UBERON:0001898	97.81	gold quality
endocervix	UBERON:0000458	97.79	gold quality
right coronary artery	UBERON:0001625	97.78	gold quality
esophagus mucosa	UBERON:0002469	97.78	gold quality
omental fat pad	UBERON:0010414	97.78	gold quality
frontal cortex	UBERON:0001870	97.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.73	gold quality
minor salivary gland	UBERON:0001830	97.70	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.70	gold quality
saliva-secreting gland	UBERON:0001044	97.66	gold quality
stromal cell of endometrium	CL:0002255	97.65	gold quality
pituitary gland	UBERON:0000007	97.64	gold quality
ovary	UBERON:0000992	97.63	gold quality
thoracic aorta	UBERON:0001515	97.61	gold quality
anterior cingulate cortex	UBERON:0009835	97.59	gold quality
ascending aorta	UBERON:0001496	97.57	gold quality
right ovary	UBERON:0002118	97.57	gold quality
left uterine tube	UBERON:0001303	97.55	gold quality
left ovary	UBERON:0002119	97.54	gold quality
right frontal lobe	UBERON:0002810	97.53	gold quality
smooth muscle tissue	UBERON:0001135	97.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.47	gold quality
vagina	UBERON:0000996	97.46	gold quality
amygdala	UBERON:0001876	97.40	gold quality
temporal lobe	UBERON:0001871	97.39	gold quality
multicellular organism	UBERON:0000468	97.36	gold quality
cerebral cortex	UBERON:0000956	97.36	gold quality
right lobe of liver	UBERON:0001114	97.33	gold quality
myometrium	UBERON:0001296	97.32	gold quality
superior frontal gyrus	UBERON:0002661	97.30	gold quality
skin of leg	UBERON:0001511	97.27	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.23	gold quality
lower esophagus mucosa	UBERON:0035834	97.19	gold quality
lung	UBERON:0002048	97.18	gold quality
zone of skin	UBERON:0000014	97.17	gold quality
tibial nerve	UBERON:0001323	97.12	gold quality
body of uterus	UBERON:0009853	97.07	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	65.68
E-MTAB-10042	yes	16.96
E-MTAB-8410	yes	15.70
E-MTAB-9388	yes	13.53
E-ENAD-17	no	4237.16
E-MTAB-6058	no	109.43
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Duodenum	tissue	424.5	medium
Small intestine	tissue	407.1	medium
Colon	tissue	295.6	medium
Kidney	tissue	294.0	medium
Bone marrow	tissue	263.4	not detected
Rectum	tissue	249.3	medium
Stomach 1	tissue	195.2	medium
Tonsil	tissue	178.2	low
Lymph node	tissue	173.2	not detected
Spinal cord	tissue	151.8
Appendix	tissue	150.2	medium
Spleen	tissue	147.7	not detected
Locus coeruleus	tissue	144.1
Gallbladder	tissue	138.0	medium
Liver	tissue	131.2	not detected
Fallopian tube	tissue	130.9	not detected
Thymus	tissue	129.5
Urinary bladder	tissue	125.1	not detected
Lung	tissue	122.1	not detected
Pons	tissue	122.0
Medulla oblongata	tissue	117.6
Thyroid gland	tissue	116.4	not detected
Thalamus	tissue	115.3
Substantia nigra	tissue	114.7
Midbrain	tissue	113.9
Postcentral gyrus	tissue	113.1
Superior colliculi	tissue	107.8
Choroid plexus	tissue	107.2
Epididymis	tissue	104.7	not detected
Pituitary gland	tissue	101.1
Adipose tissue	tissue	100.3	not detected
Hypothalamus	tissue	100.2
Corpus callosum	tissue	99.4
Vagina	tissue	99.3	low
Periaqueductal gray	tissue	94.9
Hippocampal formation	tissue	94.5
Hippocampus	tissue	93.1	not detected
Placenta	tissue	89.4	not detected
Nucleus accumbens	tissue	89.2
Breast	tissue	88.2	not detected
Adrenal gland	tissue	88.1	medium
Putamen	tissue	85.5
Smooth muscle	tissue	85.3	not detected
Seminal vesicle	tissue	81.5	not detected
Pancreas	tissue	81.0	low
Esophagus	tissue	79.8	not detected
Prostate	tissue	79.5	not detected
Septum	tissue	79.5
Ovary	tissue	79.4	not detected
Prefrontal cortex	tissue	75.9
Cerebral cortex	tissue	75.9	low
Ventral pallidum	tissue	75.0
Salivary gland	tissue	74.7	low
Motor cortex	tissue	73.5
Basal ganglia	tissue	73.4	medium
Temporal cortex	tissue	73.4
Entorhinal cortex	tissue	72.7
Occipital cortex	tissue	72.6
Cervix	tissue	72.5	not detected
Somatosensory cortex	tissue	71.7

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Paraventricular nucleus (184.9), Median raphe nucleus (156.1), Ventral spinal cord (151.8), Orbitofrontal gyrus, anterior (147.8), Spinal trigeminal nucleus, interpolar (143.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PRR13 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 42 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-100-3P	99.20	67.33	672
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-4468	98.01	66.85	1187
HSA-MIR-6810-3P	97.96	64.57	1023

Functional genomics

gnomAD constraint: pLI 0.00997, LOEUF 1.35, missense Z 0.334 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000429243 — one region, missense o/e 0.80. DepMap (CRISPR cell-line fitness): dependent in 36.3% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): KP-N-YN (-1.357), SU.86.86 (-1.257), KLE (-1.191), NIH:OVCAR-3 (-1.177), PANC-1 (-1.092), COLO-678 (-1.092), HCC-15 (-1.062), NCI-H23 (-1.04), HCC-78 (-1.025), A-172 (-0.994), NCI-H716 (-0.984), KMS-11 (-0.974), DBTRG-05MG (-0.969), CML-T1 (-0.962), J82 (-0.961).

Literature-anchored findings (GeneRIF, showing 5)

• Multivariate analysis showed that high TXR1/low TSP1 expression was an independent prognostic factor for decreased median time to tumor progression (TTP) and median overall survival (mOS). (PMID:19435835)
• Low TXR1 mRNA levels were associated with higher response rate (RR), longer median progression-free survival (PFS) and median overall survival (mOS), whereas high TSP1 expression was correlated with higher RR, longer PFS and mOS (PMID:21157449)
• High Txr1 expression is associated with oxaliplatin resistance in gastric cancer. (PMID:24362794)
• These findings indicate that PRR13/THBS1 and TXN expression could be used for the prediction of resistance to treatment of epithelial ovarian cancer patients. (PMID:27779244)
• In primary glioblastoma samples there was a high expression of TXR1 in cerebral tissue compared to control tissue. (PMID:28345125)

Cross-species orthologs

0 orthologs

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913401) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
anophthalmia	1
abnormal eye morphology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Rattus norvegicus	Q5U1W2	87.0%	Diamond
Mus musculus	Q9CQJ5	87.0%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ATF7-NPFF	protein-coding	114108587
AMHR2	protein-coding	269
PCBP2	protein-coding	5094
TARBP2	protein-coding	6895
MAP3K12	protein-coding	7786
NPFF	protein-coding	8620
SP7	protein-coding	121340
SP1	protein-coding	6667
PCBP2-OT1	ncRNA	102157401
AAAS	protein-coding	8086
ATF7-AS1	ncRNA	100652999
ATF7	protein-coding	11016

Protein

Protein identifiers

Proline-rich protein 13 — Q9NZ81 (reviewed: Q9NZ81)

Alternative names: Taxane-resistance protein

All UniProt accessions (7): Q9NZ81, F8VP70, F8VRX0, F8VU40, F8VWB5, F8VZP4, F8W1R5

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane-induced apoptosis.

Subcellular location. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NZ81-1	1	yes
Q9NZ81-2	2

RefSeq proteins (2): NP_001005354, NP_060927* (*=MANE)

Domains & families (InterPro)

UniProt features (10 total): compositionally biased region 4, sequence conflict 3, chain 1, region of interest 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZ81-F1	65.92	0.00

Human Protein Atlas

Protein class: Predicted intracellular proteins, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol; vesicles

Antibody reliability (HPA): IH uncertain · IF supported

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 186 (showing top): MARTINEZ_RB1_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, GRUETZMANN_PANCREATIC_CANCER_UP, BURTON_ADIPOGENESIS_8, MARTINEZ_RB1_AND_TP53_TARGETS_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, CHEN_METABOLIC_SYNDROM_NETWORK, REN_ALVEOLAR_RHABDOMYOSARCOMA_DN, LI_INDUCED_T_TO_NATURAL_KILLER_UP, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, RAO_BOUND_BY_SALL4_ISOFORM_B, LIM_MAMMARY_STEM_CELL_DN, GSE13522_WT_VS_IFNAR_KO_SKIN_DN

GO Biological Process (1): DNA-templated transcription (GO:0006351)

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

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

6 GO namespaces:

Category	Terms
gene expression	1
RNA biosynthetic process	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 4 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
nucleoplasm	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 846 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR13	CD47	Q08722	733
PRR13	THBS1	P07996	653
PRR13	DUSP1	P28562	552
PRR13	ITGA9	Q13797	551
PRR13	THBS2	P35442	544
PRR13	TYMP	P19971	499
PRR13	ASCC1	Q8N9N2	456
PRR13	WDR86	Q86TI4	406
PRR13	ID1	P41134	394
PRR13	NANOGNB	Q7Z5D8	392
PRR13	PXN	P49023	389
PRR13	THBS3	P49746	383
PRR13	P2RY4	P51582	383
PRR13	EDEM2	Q9BV94	367
PRR13	FBXL20	Q96IG2	366

IntAct

Human interaction partners of PRR13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 50 partners by confidence:

Partner	Interaction type	MIscore	Records
KLHL12	physical association	0.780	7
SDCBP2	physical association	0.780	7
KRTAP10-8	physical association	0.720	6
PSME3	physical association	0.720	6
TNFAIP8	physical association	0.720	6
VAC14	physical association	0.720	6
LGALS3	physical association	0.670	7
LNX1	physical association	0.670	4
ZCCHC10	physical association	0.670	4
KRTAP6-2	physical association	0.560	6
KRTAP19-5	physical association	0.560	5
KRTAP6-1	physical association	0.560	5
AP2M1	physical association	0.560	3
BAIAP2	physical association	0.560	3
CBLL2	physical association	0.560	3
CELF5	physical association	0.560	3
DAZAP2	physical association	0.560	3
DVL3	physical association	0.560	3
EWSR1	physical association	0.560	3
FAM133A	physical association	0.560	3
FUBP1	physical association	0.560	3
H2BC15	physical association	0.560	3
IL16	physical association	0.560	3
KHDC4	physical association	0.560	3
KRTAP10-5	physical association	0.560	3
KRTAP10-7	physical association	0.560	3
KRTAP15-1	physical association	0.560	3
KRTAP19-7	physical association	0.560	3
KRTAP21-2	physical association	0.560	3
KRTAP6-3	physical association	0.560	3

BioGRID (64 interactions; top human partners by supporting records): KLHL12 (Two-hybrid; 3 records), SDCBP2 (Two-hybrid; 3 records), KRTAP10-8 (Two-hybrid; 2 records), LNX1 (Two-hybrid; 2 records), PSME3 (Two-hybrid; 2 records), TNFAIP8 (Two-hybrid; 2 records), VAC14 (Two-hybrid; 2 records), AP2M1 (Two-hybrid), BAIAP2 (Two-hybrid), CELF5 (Two-hybrid), DAZAP2 (Two-hybrid), DVL3 (Two-hybrid), EWSR1 (Two-hybrid), FAM133A (Two-hybrid), FUBP1 (Two-hybrid)

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 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	17.5×	4e-09

Disease & clinical

Genetic variants

Variant evidence for PRR13: 23 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 505):

Position(s)	Effect	Δscore	Sites
12:53443619	acceptor_gain	0.9900
12:53443774–53443775	donor_loss	0.9900	5
12:53445900	donor_gain	0.9900
12:53441789	donor_gain	0.9800
12:53442693–53442694	acceptor_loss	0.9800	6
12:53442734–53442735	donor_loss	0.9800	5
12:53443652	acceptor_gain	0.9800
12:53441793–53441794	donor_loss	0.9700	6
12:53442735	donor_loss	0.9700
12:53443612–53443614	acceptor_gain	0.9700	2

AlphaMissense

122 missense substitutions predicted likely pathogenic (of 967 scored), across 35 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D146	7	0.656	0.811
K118	6	0.847	0.934
K111	6	0.832	0.908
K115	6	0.816	0.881
K107	6	0.786	0.902
K108	6	0.776	0.860
K112	6	0.774	0.835
W2	6	0.730	0.821
D106	6	0.698	0.800
K114	5	0.883	0.938
S145	5	0.865	0.918
S144	5	0.838	0.946
D148	5	0.714	0.785
M113	4	0.732	0.753
K122	4	0.717	0.769
K119	4	0.669	0.758
K134	4	0.626	0.685
F54	3	0.842	0.842
F36	3	0.674	0.674
K125	3	0.582	0.585

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	2.71e-05
Liver Hepatocellular Carcinoma (validation)	unfavorable	5.36e-05

Disease associations

OMIM: gene MIM:610459 | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST004608_118	Granulocyte percentage of myeloid white cells	5e-23
GCST004609_173	Monocyte percentage of white cells	1e-22

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases oxidation, increases abundance	2
Cisplatin	affects cotreatment, increases expression, affects expression	2
Ozone	decreases expression, increases oxidation, increases abundance, affects cotreatment	2
Valproic Acid	affects cotreatment, increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
bisphenol A	affects expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
aflatoxin B2	decreases methylation	1
S 1 (combination)	increases response to substance	1
jinfukang	affects cotreatment, increases expression	1
Irinotecan	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance, increases oxidation, affects cotreatment	1
Cadmium	affects methylation	1
Fluorouracil	affects cotreatment, increases expression	1
Gallic Acid	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Plant Extracts	decreases expression, affects cotreatment	1
Dronabinol	increases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Vitamin E	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.