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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPP1R21
protein phosphatase 1 regulatory subunit 21
Chromosome 2 Β· 2p16.3
NCBI Gene: 129285Ensembl: ENSG00000162869.17HGNC: HGNC:30595UniProt: Q6ZMI0
41PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingmRNA bindingprotein bindingprotein-macromolecule adaptor activityneurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalitiesneurodegenerative diseasegenetic disorderNeurodevelopmental disorder
✦AI Summary

PPP1R21 encodes a regulatory subunit that serves as a central component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary), functioning as a binding hub that connects all five complex subunits and mediates binding to mRNA and early endosomes via RAB5A 1. The FERRY complex directly interacts with mRNAs and functions as a RAB5A effector involved in localizing and distributing specific mRNAs through endosomal transport, recruiting mRNAs and ribosomes to early endosomes 2. PPP1R21 localizes to early endosomes and plays a role in the endosomal sorting process or endosome maturation pathway 3. Biallelic loss-of-function variants in PPP1R21 cause a neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, characterized by global developmental delay, coarse facial features, and brain imaging abnormalities including delayed myelination and ventricular changes 34. Patient fibroblasts exhibit delayed transferrin clearance, indicating impaired endocytic function 3. The disorder represents part of an emerging disease class affecting FERRY complex components, suggesting shared pathogenic mechanisms involving mRNA transport and endosomal function 2. Additionally, PPP1R21 variants may influence stroke recovery outcomes, potentially through effects on brain plasticity mechanisms 5.

Sources cited
1
PPP1R21 serves as binding hub in FERRY complex connecting subunits and mediating mRNA/endosome binding
PMID: 37267906
2
FERRY complex functions as RAB5A effector for mRNA localization and endosomal transport
PMID: 40062705
3
PPP1R21 localizes to early endosomes and causes neurodevelopmental disorder with impaired endocytic function
PMID: 30520571
4
PPP1R21 variants cause consistent phenotype with developmental delay, hypotonia, and brain abnormalities
PMID: 38356149
5
PPP1R21 variants associated with functional outcomes after ischemic stroke
PMID: 30796134
Disease Associationsβ“˜21
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalitiesOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.42Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
Abnormality of the respiratory systemOpen Targets
0.37Weak
HepatosplenomegalyOpen Targets
0.37Weak
colorectal cancerOpen Targets
0.31Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.26Weak
handednessOpen Targets
0.17Weak
benign colon neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
DNA methylationOpen Targets
0.06Suggestive
obesityOpen Targets
0.03Suggestive
spontaneous abortionOpen Targets
0.03Suggestive
peripheral vascular diseaseOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalitiesUniProt
Pathogenic Variants21
NM_001135629.3(PPP1R21):c.2089C>T (p.Arg697Ter)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities|Neurodevelopmental disorder with hypotonia
β˜…β˜†β˜†β˜†2024β†’ Residue 697
NM_001135629.3(PPP1R21):c.463C>T (p.Gln155Ter)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 155
NM_001135629.3(PPP1R21):c.1868C>G (p.Ser623Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 623
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 139
NM_001135629.3(PPP1R21):c.1981G>T (p.Glu661Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 661
NM_001135629.3(PPP1R21):c.310C>T (p.Gln104Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 104
NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜…β˜†β˜†β˜†2022β†’ Residue 390
NM_001135629.3(PPP1R21):c.541-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2019
NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜…β˜†β˜†β˜†2018β†’ Residue 688
NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜…β˜†β˜†β˜†β†’ Residue 255
NM_001135629.3(PPP1R21):c.126+2T>CLikely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†
NM_001135629.3(PPP1R21):c.748-3A>GPathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2024
NM_001135629.3(PPP1R21):c.427C>T (p.Arg143Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 143
NM_001135629.3(PPP1R21):c.1950del (p.Arg651fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 651
NM_001135629.3(PPP1R21):c.2096T>C (p.Leu699Pro)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 699
NM_001135629.3(PPP1R21):c.224T>G (p.Leu75Arg)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 75
NM_001135629.3(PPP1R21):c.347del (p.Ile116fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2021β†’ Residue 116
NM_001135629.3(PPP1R21):c.87_88del (p.Gly30fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2021β†’ Residue 30
NM_001135629.3(PPP1R21):c.193C>T (p.Arg65Ter)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2021β†’ Residue 65
NM_001135629.3(PPP1R21):c.1607dup (p.Leu536fs)Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
β˜†β˜†β˜†β˜†2021β†’ Residue 536
View on ClinVar β†—
Related Genes
CRYZL1Protein interaction96%DTNAProtein interaction96%DTNBProtein interaction96%RSPH3Protein interaction96%GATD1Protein interaction95%HMX3Protein interaction78%
Tissue Expression6 tissues
Brain
100%
Heart
61%
Ovary
59%
Bone Marrow
57%
Lung
50%
Liver
47%
Gene Interaction Network
Click a node to explore
PPP1R21CRYZL1DTNADTNBRSPH3GATD1HMX3
PROTEIN STRUCTURE
Preparing viewer…
PDB7ND2 Β· 4.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.69–1.03]
RankingsWhere PPP1R21 stands among ~20K protein-coding genes
  • #10,058of 20,598
    Most Researched41
  • #2,162of 5,498
    Most Pathogenic Variants21
  • #10,172of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedPPP1R21
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Expanding the genetic heterogeneity of intellectual disability.
PMID: 28940097
Hum Genet Β· 2017
1.00
2
Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?
PMID: 40062705
Biol Open Β· 2025
0.90
3
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
PMID: 32985083
Am J Med Genet A Β· 2020
0.80
4
Regulatory polymorphisms of
PMID: 40889797
J Immunother Cancer Β· 2025
0.70
5
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
PMID: 38356149
Clin Genet Β· 2024
0.60