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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLSCR5
phospholipid scramblase family member 5
Chromosome 3 Β· 3q24
NCBI Gene: 389158Ensembl: ENSG00000231213.7HGNC: HGNC:19952UniProt: A0PG75
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phospholipid scramblase activityplasma membrane phospholipid scramblingplasma membraneretinal degenerationsmoking initiationstrokeIschemic stroke
✦AI Summary

PLSCR5 (phospholipid scramblase family member 5) encodes a phospholipid scramblase that mediates plasma membrane phospholipid asymmetry through phosphatidylserine externalization 1. In auditory function, PLSCR5 is a downstream transcriptional target of POU4F3 and is essential for maintaining cochlear hair cell stereocilia integrity and structural homeostasis 1. PLSCR5-deficient mice develop progressive hearing loss characterized by stereocilia degeneration and hair cell loss, with particular importance for inner hair cell function 1. Beyond hearing, PLSCR5 has been identified as a candidate gene in genome-wide association studies for fatty acid composition in cattle 2 and for innate immune resistance to Toxoplasma gondii infection in sheep 3, suggesting broader roles in metabolic and immunological processes. Clinically, rare heterozygous variants in PLSCR5 have been identified in families with early-onset bipolar disorder and comorbid anxiety disorders, potentially implicating dysfunction in CREB-regulated intracellular signaling pathways 4. These findings collectively indicate PLSCR5 functions in maintaining membrane dynamics critical for sensory and neurological function, with disease associations including deafness (DFNA15) and psychiatric disorders.

Sources cited
1
PLSCR5 is regulated by POU4F3, required for hair cell stereocilia homeostasis, contributes to phosphatidylserine externalization, and is essential for auditory function
PMID: 40068798
2
PLSCR5 is identified as a candidate gene associated with fatty acid composition in Chinese Wagyu cattle through GWAS
PMID: 30867906
3
PLSCR5 is a candidate gene for innate immune resistance to Toxoplasma gondii infection in sheep
PMID: 40221787
4
Rare heterozygous damaging variants in PLSCR5 are identified in patients with early-onset bipolar disorder and anxiety disorders, with potential role in CREB-regulated signaling pathways
PMID: 24348429
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
retinal degenerationOpen Targets
0.27Weak
smoking initiationOpen Targets
0.27Weak
strokeOpen Targets
0.26Weak
Ischemic strokeOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
substance abuseOpen Targets
0.26Weak
nervous system diseaseOpen Targets
0.26Weak
health study participationOpen Targets
0.20Weak
ovarian dysfunctionOpen Targets
0.19Weak
cardiomyopathyOpen Targets
0.18Weak
systemic lupus erythematosusOpen Targets
0.17Weak
sleep apneaOpen Targets
0.17Weak
benign adult familial myoclonic epilepsyOpen Targets
0.06Suggestive
respiratory failureOpen Targets
0.06Suggestive
deafnessOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's crampOpen Targets
0.04Suggestive
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeOpen Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CLPTM1LShared pathway100%SERINC2Shared pathway50%PLSCR4Shared pathway50%TMEM41BShared pathway33%SERINC3Shared pathway33%PLSCR2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PLSCR5CLPTM1LSERINC2PLSCR4TMEM41BSERINC3PLSCR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A0PG75
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.58 [1.21–1.92]
RankingsWhere PLSCR5 stands among ~20K protein-coding genes
  • #18,179of 20,598
    Most Researched6
  • #17,409of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedPLSCR5
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
The phospholipid scramblase PLSCR5 is regulated by POU4F3 and required for hair cell stereocilia homeostasis and auditory functions.
PMID: 40068798
J Genet Genomics Β· 2025
1.00
2
Genome wide association study identifies SNPs associated with fatty acid composition in Chinese Wagyu cattle.
PMID: 30867906
J Anim Sci Biotechnol Β· 2019
0.75
3
Discovery of host genetic factors through multi-locus GWAS against toxoplasmosis in sheep: addressing one health perspectives.
PMID: 40221787
BMC Vet Res Β· 2025
0.50
4
Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways.
PMID: 24348429
Front Psychiatry Β· 2013
0.25