PRR23E

gene
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Also known as FLJ40141

Summary

PRR23E (PRR23 family member E, HGNC:32481) is a protein-coding gene on chromosome 3q21.3, encoding Proline-rich protein 23E (Q8N813).

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 3 total
  • MANE Select transcript: NM_001007534

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:32481
Approved symbolPRR23E
NamePRR23 family member E
Location3q21.3
Locus typegene with protein product
StatusApproved
AliasesFLJ40141
Ensembl geneENSG00000214324
Ensembl biotypeprotein_coding
Entrez285311

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624688

RefSeq mRNA: 1 — MANE Select: NM_001007534 NM_001007534

Canonical transcript exons

ENST00000624688 — 2 exons

ExonStartEnd
ENSE00001531658127193131127193275
ENSE00003757208127196591127198185

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 99.82.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
oocyteCL:000002399.82gold quality
secondary oocyteCL:000065599.48gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.93gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047379.40gold quality
lower lobe of lungUBERON:000894950.36silver quality
skin of hipUBERON:000155449.44silver quality
colonic epitheliumUBERON:000039745.93gold quality
lateral nuclear group of thalamusUBERON:000273645.17gold quality
bone marrow cellCL:000209244.78gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451143.37gold quality
epithelium of nasopharynxUBERON:000195142.86gold quality
layer of synovial tissueUBERON:000761642.00gold quality
vastus lateralisUBERON:000137941.72gold quality
quadriceps femorisUBERON:000137741.67gold quality
inferior vagus X ganglionUBERON:000536341.55gold quality
pigmented layer of retinaUBERON:000178241.40gold quality
cartilage tissueUBERON:000241841.40gold quality
superficial temporal arteryUBERON:000161441.33gold quality
sural nerveUBERON:001548841.14gold quality
ventral tegmental areaUBERON:000269141.12gold quality
palpebral conjunctivaUBERON:000181241.10gold quality
mucosa of paranasal sinusUBERON:000503040.98gold quality
amniotic fluidUBERON:000017340.69gold quality
mammary ductUBERON:000176540.64gold quality
jejunal mucosaUBERON:000039940.59gold quality
biceps brachiiUBERON:000150740.57gold quality
myocardiumUBERON:000234940.45gold quality
gingival epitheliumUBERON:000194940.43gold quality
medial globus pallidusUBERON:000247740.36gold quality
germinal epithelium of ovaryUBERON:000130440.33gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting PRR23E, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-23B-5P99.9866.07587
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-23A-5P99.9465.39468
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-449299.8768.253611
HSA-MIR-76599.8468.242442
HSA-MIR-607999.8468.541170
HSA-MIR-472999.6972.184233
HSA-MIR-4666B99.6468.691282
HSA-MIR-368599.6268.831621
HSA-MIR-6507-3P99.3567.321059
HSA-MIR-431199.3170.473041
HSA-MIR-18A-5P99.2971.05806
HSA-MIR-18B-5P99.2971.05806
HSA-MIR-10522-5P99.2668.502087
HSA-MIR-593-3P99.2267.281327
HSA-MIR-397399.2069.191990
HSA-MIR-478499.1567.411733
HSA-MIR-4735-3P99.1469.85777
HSA-MIR-7160-5P99.1167.172207
HSA-MIR-3150B-3P98.8167.211728
HSA-MIR-6895-3P98.7965.69996
HSA-MIR-423-5P98.6967.481522
HSA-MIR-4700-5P98.6367.431915
HSA-MIR-3184-5P98.5667.131491
HSA-MIR-6819-5P97.9666.591071
HSA-MIR-6737-5P97.7566.541044
HSA-MIR-432997.6866.261003
HSA-MIR-6812-5P97.5665.391059
HSA-MIR-27B-5P97.3466.55549

Cross-species orthologs

0 orthologs

Paralogs (5): PRR23B (ENSG00000184814), PRR23A (ENSG00000206260), PRR23C (ENSG00000233701), PRR23D1 (ENSG00000255251), PRR23D2 (ENSG00000255378)

Protein

Protein identifiers

Proline-rich protein 23EQ8N813 (reviewed: Q8N813)

All UniProt accessions (1): Q8N813

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRR23 family.

RefSeq proteins (1): NP_001007535* (*=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N813-F147.190.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): chr3q21, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MIR4729, MIR4311, MIR593_3P, MIR3664_5P, MIR23B_5P, MIR23A_5P, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE2770_UNTREATED_VS_ACT_CD4_TCELL_48H_DN, GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_2H_UP, ZHOU_INFLAMMATORY_RESPONSE_FIMA_UP, GSE18281_CORTEX_VS_MEDULLA_THYMUS_UP, GSE21927_SPLENIC_C26GM_TUMOROUS_VS_4T1_TUMOR_MONOCYTES_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:

CategoryTerms
binding1

Protein interactions and networks

STRING

50 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PRR23EOOEPA6NGQ2477
PRR23EOOSP1A8MZH6432
PRR23EPSMD6Q15008248
PRR23EZC3H6P61129233
PRR23EPLEKHH2Q8IVE3219
PRR23EPIDD1Q9HB75209
PRR23EH1-8Q8IZA3204
PRR23EPLXNA1Q9UIW2202
PRR23ERBM12Q9NTZ6200
PRR23EDPPA5A6NC42196
PRR23EFIGLAQ6QHK4195
PRR23EZP1P60852191
PRR23EGPR26Q8NDV2184
PRR23EWEE2P0C1S8172
PRR23EINHAP05111170

IntAct

5 interactions, top by confidence:

ABTypeScore
ROR2PRR23Epsi-mi:“MI:0915”(physical association)0.560
PRR23Emtc28psi-mi:“MI:0914”(association)0.350
PRR23EROR2psi-mi:“MI:0915”(physical association)0.000

BioGRID (2): C3orf56 (Two-hybrid), C3orf56 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1L8I316, A2A9I7, A5PJK7, A6NCN8, A6NEV1, A6NFR6, A8WFF7, B1ATL7, O09102, P03140, P12934, P17101, P31868, P31869, P31873, P78412, Q09SZ8, Q0P670, Q0R5R0, Q0VD86, Q2HR73, Q3ZN08, Q4R1R8, Q4R1S6, Q5SSZ7, Q64846, Q67867, Q67926, Q68FV4, Q69606, Q6P1W5, Q6ZRP0, Q76R62, Q77NU1, Q81162, Q8BII1, Q8BM15, Q8C494, Q8C5U4, Q8N813

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance0
Likely benign0
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1522 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:127197403:T:CF240L0.888
3:127197405:T:AF240L0.888
3:127197405:T:GF240L0.888
3:127197016:T:CF111L0.867
3:127197018:T:AF111L0.867
3:127197018:T:GF111L0.867
3:127197265:T:CF194L0.813
3:127197267:C:AF194L0.813
3:127197267:C:GF194L0.813
3:127196737:T:CF18L0.811
3:127196739:C:AF18L0.811
3:127196739:C:GF18L0.811
3:127196947:T:AW88R0.811
3:127196947:T:CW88R0.811
3:127197067:T:CF128L0.793
3:127197069:T:AF128L0.793
3:127197069:T:GF128L0.793
3:127196949:G:CW88C0.784
3:127196949:G:TW88C0.784
3:127196923:T:AW80R0.782
3:127196923:T:CW80R0.782
3:127196989:T:AW102R0.754
3:127196989:T:CW102R0.754
3:127197085:T:CF134L0.748
3:127197087:C:AF134L0.748
3:127197087:C:GF134L0.748
3:127197013:A:CS110R0.732
3:127197015:C:AS110R0.732
3:127197015:C:GS110R0.732
3:127196884:T:CF67L0.729

dbSNP variants (sampled 300 via entrez): RS1000252945 (3:127195836 G>A,T), RS1000766536 (3:127197185 G>A), RS1000792431 (3:127196268 C>A,T), RS1000818773 (3:127196972 C>A), RS1001314885 (3:127196473 G>C), RS1001657783 (3:127194637 A>G), RS1002177307 (3:127191360 G>A), RS1002327559 (3:127193384 T>A,G), RS1002554235 (3:127191671 A>C), RS1002788506 (3:127193523 A>T), RS1003039833 (3:127197407 A>G), RS1003336172 (3:127192690 G>C), RS1003739811 (3:127192438 A>G), RS1004149975 (3:127193542 C>G), RS1004182563 (3:127193430 T>A)

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

5 associations (top):

StudyTraitp-value
GCST002180_2Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)3.000000e-06
GCST002337_104Amyotrophic lateral sclerosis (sporadic)5.000000e-06
GCST004860_115Alcoholic chronic pancreatitis4.000000e-06
GCST004860_138Alcoholic chronic pancreatitis2.000000e-06
GCST009440_3Age-related cognitive decline (attention/processing speed) (slope of z-scores)9.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007710cognitive decline measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

ChemicalActions (top 5)PubMed papers
Resveratrolaffects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Valproic Acidincreases methylation1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chemotherapy-induced alopecia