PRR4

Chr 12

proline rich 4

Also known as: LPRP, PROL4

NCBI Gene: 11272 ENSG00000111215 UniProt: Q96NY8

The PRR4 protein is involved in cell adhesion through interactions with other proteins including NECTIN1. Mutations in this gene cause autosomal recessive lacrimo-auriculo-dento-digital syndrome, which affects the lacrimal system, ears, teeth, and digits. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEctodermal dysplasia-syndactyly syndrome 1

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.72

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.72LOEUF

pLI 0.044

Z-score 0.56

OE 0.66 (0.26–1.72)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.14Z-score

OE missense 1.05 (0.87–1.27)

75 obs / 71.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.66 (0.26–1.72)

0≤0.351.4

Missense OE?1.05 (0.87–1.27)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 2 / 3.0Missense obs/exp: 75 / 71.6Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRR4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Advanced Malignant Solid NeoplasmMetastatic Malignant Solid Neoplasm

Personalized Antibody-Drug Conjugate Therapy Based on RNA and Protein Testing for the Treatment of Advanced or Metastatic Solid Tumors (The ADC MATCH Screening and Treatment Trial)

RECRUITING

NCT06311214Phase PHASE2National Cancer Institute (NCI)Started 2025-03-18

Biopsy ProcedureBiospecimen CollectionComputed Tomography

Locally Advanced Bladder Urothelial CarcinomaLocally Advanced Renal Pelvis Urothelial CarcinomaLocally Advanced Ureter Urothelial Carcinoma

Testing Combination Erdafitinib and Enfortumab Vedotin in Metastatic Bladder Cancer After Treatment With Chemotherapy and Immunotherapy

ACTIVE NOT RECRUITING

NCT04963153Phase PHASE1National Cancer Institute (NCI)Started 2022-07-07

Biospecimen CollectionBone ScanComputed Tomography

TNBC - Triple-Negative Breast CancerHR+ Breast Cancer

SC-101 in Subjects With Advanced NECTIN4-Amplified Cancers

NOT YET RECRUITING

NCT07080619Phase PHASE2Tianjin ConjuStar Biologics Co., Ltd.Started 2025-09-20