PRR14L

Summary

PRR14L (proline rich 14 like, HGNC:28738) is a protein-coding gene on chromosome 22q12.2, encoding Protein PRR14L (Q5THK1).

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 320 total
• MANE Select transcript: NM_173566

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28738
Approved symbol	PRR14L
Name	proline rich 14 like
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC50372
Ensembl gene	ENSG00000183530
Ensembl biotype	protein_coding
OMIM	621035
Entrez	253143

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000327423, ENST00000330495, ENST00000412743, ENST00000431684, ENST00000432485, ENST00000461722, ENST00000492705, ENST00000923609, ENST00000923610, ENST00000923611

RefSeq mRNA: 1 — MANE Select: NM_173566 NM_173566

CCDS: CCDS13900

Canonical transcript exons

ENST00000327423 — 9 exons

Exon	Start	End
ENSE00001304054	31712083	31717291
ENSE00001528902	31738387	31738911
ENSE00001785220	31681347	31685803
ENSE00001949247	31749993	31750132
ENSE00002145286	31701656	31701762
ENSE00002150582	31704655	31704726
ENSE00002162179	31703550	31703721
ENSE00003542813	31725538	31725610
ENSE00003644910	31688156	31688227

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 95.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8465 / max 139.8894, expressed in 1776 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193729	7.2233	1616
193730	6.6231	1700

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	95.26	gold quality
middle temporal gyrus	UBERON:0002771	94.47	gold quality
secondary oocyte	CL:0000655	93.81	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.73	gold quality
epithelium of nasopharynx	UBERON:0001951	93.60	gold quality
esophagus squamous epithelium	UBERON:0006920	93.38	gold quality
gingiva	UBERON:0001828	93.27	gold quality
germinal epithelium of ovary	UBERON:0001304	93.12	gold quality
tibia	UBERON:0000979	92.49	gold quality
jejunal mucosa	UBERON:0000399	92.38	gold quality
palpebral conjunctiva	UBERON:0001812	92.32	gold quality
amniotic fluid	UBERON:0000173	91.82	gold quality
parietal pleura	UBERON:0002400	91.35	gold quality
colonic mucosa	UBERON:0000317	91.30	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.25	gold quality
oral cavity	UBERON:0000167	90.79	gold quality
visceral pleura	UBERON:0002401	90.58	gold quality
upper leg skin	UBERON:0004262	90.57	gold quality
pigmented layer of retina	UBERON:0001782	90.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.02	gold quality
pleura	UBERON:0000977	89.99	gold quality
bronchial epithelial cell	CL:0002328	89.38	gold quality
calcaneal tendon	UBERON:0003701	89.26	gold quality
corpus epididymis	UBERON:0004359	89.07	gold quality
squamous epithelium	UBERON:0006914	88.58	gold quality
trabecular bone tissue	UBERON:0002483	88.53	gold quality
jejunum	UBERON:0002115	88.52	gold quality
cerebellar vermis	UBERON:0004720	88.34	gold quality
adrenal tissue	UBERON:0018303	88.32	gold quality
skin of hip	UBERON:0001554	88.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.88
E-MTAB-6524	no	128.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

245 targeting PRR14L, 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-3613-3P	100.00	76.36	7965
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
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-548P	99.98	72.25	3784
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6780B-5P	99.96	69.60	2562

Literature-anchored findings (GeneRIF, showing 1)

• we report for the first time the finding of loss of function PRR14L mutations in myeloid neoplasia and ARCH. Knockdown of PRR14L results in altered myeloid differentiation and cell growth in vitro and our data suggest that PRR14L may play a role in cell division. (PMID:30573780)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prr14l	ENSMUSG00000054280
rattus_norvegicus	Prr14l	ENSRNOG00000048891

Paralogs (1): PRR14 (ENSG00000156858)

Protein

Protein identifiers

Protein PRR14L — Q5THK1 (reviewed: Q5THK1)

Alternative names: Proline rich 14-like protein

All UniProt accessions (5): C9J9V0, H3BLU3, H7BZH1, H7C1B0, Q5THK1

UniProt curated annotations — full annotation on UniProt →

Isoforms (4)

UniProt ID	Names	Canonical?
Q5THK1-1	1	yes
Q5THK1-2	2
Q5THK1-3	3
Q5THK1-4	4

RefSeq proteins (1): NP_775837* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026320	PRR14	Family
IPR028149	Tantalus-like	Domain

Pfam: PF15386

UniProt features (36 total): sequence variant 10, region of interest 8, compositionally biased region 7, modified residue 4, splice variant 4, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5THK1-F1	35.74	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 157, 582, 945, 1029

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 117 (showing top): CAGCTG_AP4_Q5, SRF_Q5_01, SRF_C, ZHANG_BREAST_CANCER_PROGENITORS_UP, TCANNTGAY_SREBP1_01, CEBPB_02, E2F2_TARGET_GENES, FEV_TARGET_GENES, HHEX_TARGET_GENES, ID2_TARGET_GENES, MAFG_TARGET_GENES, SALL4_TARGET_GENES, GSE10240_CTRL_VS_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, ZFP91_TARGET_GENES, ZNF618_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRR14L	NHLRC3	Q5JS37	662
PRR14L	PPIP5K2	O43314	541
PRR14L	ZDHHC21	Q8IVQ6	517
PRR14L	KYAT1	Q16773	481
PRR14L	PNPO	Q9NVS9	479
PRR14L	CCDC87	Q9NVE4	477
PRR14L	C16orf46	Q6P387	403
PRR14L	NAA80	Q93015	371
PRR14L	G3V325	G3V325	370
PRR14L	KLHL17	Q6TDP4	364
PRR14L	PTPRB	P23467	359
PRR14L	KATNBL1	Q9H079	348
PRR14L	DEPDC4	Q8N2C3	348
PRR14L	TMEM80	Q96HE8	336
PRR14L	NMRAL1	Q9HBL8	335

IntAct

72 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
PPP2CB	CEP43	psi-mi:“MI:0914”(association)	0.730
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
HSP90AA1	USP19	psi-mi:“MI:0914”(association)	0.530
STK35	HSP90AA1	psi-mi:“MI:0914”(association)	0.530
BCAT1	ARNT	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
CDK4	GUSB	psi-mi:“MI:0914”(association)	0.530
PPP2R1A	ENSA	psi-mi:“MI:0914”(association)	0.530
SGO1	USP12	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
PPP2CA	SMCO3	psi-mi:“MI:0914”(association)	0.420
PRR14L	DNAJA2	psi-mi:“MI:0915”(physical association)	0.400
PRR14L	SF3B3	psi-mi:“MI:0915”(physical association)	0.400
CSNK2A2	WDR46	psi-mi:“MI:0914”(association)	0.350
PPP2R1A	INTS2	psi-mi:“MI:0914”(association)	0.350
Kif23	PRR14L	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1	IPO5	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (88): PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS), PRR14L (Affinity Capture-MS)

ESM2 similar proteins: A0A140LI88, D3ZUC6, E5FYH0, E5FYH1, E9Q3S4, F6ULY3, F7DF15, F8VPN2, G3S077, G7H7V7, G7NY55, M0RD54, O35923, O54952, O88491, O94854, O95405, P38398, P48754, P51587, P97929, Q0VBV7, Q0VGT4, Q29106, Q3URK3, Q56UN5, Q5DTT3, Q5F2C3, Q5R5G4, Q5THK1, Q5VWN6, Q68DQ2, Q6J6I8, Q6J6I9, Q6J6J0, Q711Q0, Q7TSY8, Q7Z570, Q80U44, Q864S8

Diamond homologs: Q0VBZ8, Q5THK1, Q7TPN9, Q9BWN1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	6	21.9×	7e-05
PKR-mediated signaling	6	16.0×	2e-04
EML4 and NUDC in mitotic spindle formation	5	8.8×	5e-03
Resolution of Sister Chromatid Cohesion	5	8.2×	6e-03
Mitotic Prometaphase	6	7.8×	2e-03
RHO GTPases Activate Formins	5	7.3×	8e-03
Separation of Sister Chromatids	6	6.9×	4e-03
Cell Cycle, Mitotic	6	5.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	271
Likely benign	27
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1648 predictions. Top by Δscore:

Variant	Effect	Δscore
22:31688152:CTA:C	donor_loss	1.0000
22:31688153:TA:T	donor_loss	1.0000
22:31688154:A:AT	donor_loss	1.0000
22:31688224:TAACC:T	acceptor_loss	1.0000
22:31688225:AACC:A	acceptor_loss	1.0000
22:31688226:ACC:A	acceptor_loss	1.0000
22:31688227:CCT:C	acceptor_loss	1.0000
22:31688228:CTG:C	acceptor_loss	1.0000
22:31688229:T:G	acceptor_loss	1.0000
22:31703545:CTTA:C	donor_loss	1.0000
22:31703546:TTACC:T	donor_loss	1.0000
22:31703547:TA:T	donor_loss	1.0000
22:31703548:ACCTC:A	donor_loss	1.0000
22:31703549:C:G	donor_loss	1.0000
22:31703729:CA:C	acceptor_gain	1.0000
22:31704651:TTACC:T	donor_loss	1.0000
22:31704652:TACC:T	donor_loss	1.0000
22:31704654:C:A	donor_loss	1.0000
22:31717287:TCCTT:T	acceptor_gain	1.0000
22:31717288:CCTTC:C	acceptor_gain	1.0000
22:31717289:CTT:C	acceptor_gain	1.0000
22:31717290:TT:T	acceptor_gain	1.0000
22:31717292:C:CC	acceptor_gain	1.0000
22:31725533:AATAC:A	donor_loss	1.0000
22:31725534:ATAC:A	donor_loss	1.0000
22:31725535:TAC:T	donor_loss	1.0000
22:31725536:A:AG	donor_loss	1.0000
22:31725537:C:A	donor_loss	1.0000
22:31748249:T:C	acceptor_gain	1.0000
22:31749991:AC:A	donor_gain	1.0000

AlphaMissense

14259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:31688209:A:C	F2042L	1.000
22:31688209:A:T	F2042L	1.000
22:31688210:A:G	F2042S	1.000
22:31688211:A:G	F2042L	1.000
22:31685713:A:C	F2090L	0.999
22:31685713:A:T	F2090L	0.999
22:31685714:A:G	F2090S	0.999
22:31685715:A:G	F2090L	0.999
22:31688195:A:T	I2047K	0.999
22:31688210:A:C	F2042C	0.999
22:31701671:A:G	L2031P	0.999
22:31701675:C:G	G2030R	0.999
22:31701719:A:C	I2015S	0.999
22:31701719:A:G	I2015T	0.999
22:31685588:A:G	L2132P	0.998
22:31685714:A:C	F2090C	0.998
22:31685726:C:G	R2086P	0.998
22:31685731:C:A	R2084S	0.998
22:31685731:C:G	R2084S	0.998
22:31685785:A:C	F2066L	0.998
22:31685785:A:T	F2066L	0.998
22:31685787:A:G	F2066L	0.998
22:31685798:A:G	L2062S	0.998
22:31688178:A:G	Y2053H	0.998
22:31688185:G:C	N2050K	0.998
22:31688185:G:T	N2050K	0.998
22:31688195:A:C	I2047R	0.998
22:31688195:A:G	I2047T	0.998
22:31688204:A:G	L2044S	0.998
22:31688206:A:C	S2043R	0.998

dbSNP variants (sampled 300 via entrez): RS1000039757 (22:31718504 T>C), RS1000048976 (22:31718245 G>C,T), RS1000070650 (22:31691335 C>A), RS1000071302 (22:31731258 T>C), RS1000093220 (22:31718313 T>A), RS1000130793 (22:31699867 AG>A), RS1000185051 (22:31709408 C>T), RS1000187180 (22:31695202 A>G), RS1000187337 (22:31689317 T>C), RS1000206901 (22:31748753 T>A,C), RS1000223701 (22:31751817 C>T), RS1000225012 (22:31735022 T>A), RS1000330769 (22:31742766 A>C,T), RS1000352690 (22:31749435 C>G), RS1000489879 (22:31709643 C>T)

Disease associations

OMIM: gene MIM:621035 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002491_22	Age-related hearing impairment	6.000000e-06
GCST010135_20	Oily fish consumption	3.000000e-10
GCST010135_5	Oily fish consumption	1.000000e-15
GCST010140_12	Pork consumption	3.000000e-10
GCST010140_49	Pork consumption	1.000000e-15
GCST010142_11	Fish- and plant-related diet	1.000000e-11
GCST010142_79	Fish- and plant-related diet	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	3
trichostatin A	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression, increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases abundance, decreases expression	1
coumarin	decreases phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Vorinostat	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Methotrexate	increases expression	1
Phthalic Acids	increases methylation	1
Ribonucleotides	affects binding	1
Thimerosal	decreases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	affects expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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