PPP1R21 (protein phosphatase 1 regulatory subunit 21)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
129285
Gene name Gene Name - the full gene name approved by the HGNC.
Protein phosphatase 1 regulatory subunit 21
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPP1R21
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC128, FERRY2, Fy-2, KLRAQ1, NEDHFBA
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT440353 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440353 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IDA 37267906
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IDA 37267906
GO:0005515 Function Protein binding IPI 26496610, 32814053, 33961781, 37267906
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618159 30595 ENSG00000162869
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6ZMI0
Protein name Protein phosphatase 1 regulatory subunit 21 (Coiled-coil domain-containing protein 128) (Ferry endosomal RAB5 effector complex subunit 2) (Fy-2) (KLRAQ motif-containing protein 1)
Protein function Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localizat
PDB 7ND2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10205 KLRAQ 11 → 111 Predicted coiled-coil domain-containing protein Coiled-coil
PF10212 TTKRSYEDQ 255 → 771 Predicted coiled-coil domain-containing protein Coiled-coil
Sequence
Sequence length 780
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 30520571
Brain Diseases Associate 36692708
Developmental Disabilities Associate 36692708
Facial Dysmorphism with Multiple Malformations Associate 36692708
Intellectual Disability Associate 30520571
Leukoencephalopathies Associate 30520571
Lysosomal Storage Diseases Associate 30520571
Muscle Hypotonia Associate 30520571, 36692708
Muscle Weakness Associate 36692708
Speech Disorders Associate 36692708