PPP1R21 (protein phosphatase 1 regulatory subunit 21)

Gene

• Entrez ID: 129285
• Gene name: Protein phosphatase 1 regulatory subunit 21
• Gene symbol: PPP1R21
• Synonyms (NCBI Gene): CCDC128, FERRY2, Fy-2, KLRAQ1, NEDHFBA
• Chromosome: 2
• Chromosome location: 2p16.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440353	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440353	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

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
GO:0005769	Component	Early endosome	IBA
GO:0005769	Component	Early endosome	IDA	30520571, 37267906
GO:0005769	Component	Early endosome	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	37267906
GO:0031901	Component	Early endosome membrane	IDA	37267906
GO:1904580	Process	Regulation of intracellular mRNA localization	IDA	37267906
GO:1904580	Process	Regulation of intracellular mRNA localization	IMP	37267905

Other IDs

• MIM: 618159
• HGNC: 30595
• e!Ensembl: ENSG00000162869

Protein

• 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:

  MASAELQGKYQKLAQEYSKLRAQNQVLKKGVVDEQANSAALKEQLKMKDQSLRKLQQEMD
  SLTFRNLQLAKRVELLQDELALSEPRGKKNKKSGESSSQLSQEQKSVFDEDLQKKIEENE
  RLHIQFFEADEQHKHVEAELRSRLATLETEAAQHQAVVDGLTRKYMETIEKLQNDKAKLE
  VKSQTLEKEAKECRLRTEECQLQLKTLHEDLSGRLEESLSIINEKVPFNDTKYSQYNALN
  VPLHNRRHQLKMRDIAGQALAFVQDLVTALLNFHTYTEQRIQIFPVDSAIDTISPLNQKF
  SQYLHENASYVRPLEEGMLHLFESITEDTVTVLETTVKLKTFSEHLTSYICFLRKILPYQ
  LKSLEEECESSLCTSALRARNLELSQDMKKMTAVFEKLQTYIALLALPSTEPDGLLRTNY
  SSVLTNVGAALHGFHDVMKDISKHYSQKAAIEHELPTATQKLITTNDCILSSVVALTNGA
  GKIASFFSNNLDYFIASLSYGPKAASGFISPLSAECMLQYKKKAAAYMKSLRKPLLESVP
  YEEALANRRILLSSTESREGLAQQVQQSLEKISKLEQEKEHWMLEAQLAKIKLEKENQRI
  ADKLKNTGSAQLVGLAQENAAVSNTAGQDEATAKAVLEPIQSTSLIGTLTRTSDSEVPDV
  ESREDLIKNHYMARIVELTSQLQLADSKSVHFYAECRALSKRLALAEKSKEALTEEMKLA
  SQNISRLQDELTTTKRSYEDQLSMMSDHLCSMNETLSKQREEIDTLKMSSKGNSKKNKSR
  

• Sequence length: 780

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with hypotonia	Likely pathogenic	rs989639063	RCV004798913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	Likely pathogenic; Pathogenic	rs989639063, rs998498095, rs2103757235, rs2103789078, rs2529044401, rs2103624293, rs866802950, rs2103865102, rs2528822984, rs2528877481, rs370271261, rs1670430380	RCV001527695 RCV001527696 RCV001527697 RCV001527698 RCV001527699 RCV001527700 RCV001527701 RCV001807954 RCV003314305 RCV003340881 RCV003404730 RCV001786431	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2528822984	RCV005931061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPP1R21-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36692708	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36692708	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	36692708	Associate	★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	30520571		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29808498		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30520571	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30529582		★☆☆☆☆ Found in Text Mining only