Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	129285
Gene name	Protein phosphatase 1 regulatory subunit 21
Gene symbol	PPP1R21
Synonyms (NCBI Gene)	CCDC128FERRY2Fy-2KLRAQ1NEDHFBA
Chromosome	2
Chromosome location	2p16.3

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

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
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

MIM	HGNC	e!Ensembl
618159	30595	ENSG00000162869

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

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with hypotonia	Likely pathogenic	rs989639063	RCV004798913
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
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2528822984	RCV005931061

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs774918805	RCV005910024
Clear cell carcinoma of kidney	Uncertain significance	rs140182996	RCV005929152
Colorectal cancer	Likely benign	rs148151051	RCV005922660
Lung cancer	Uncertain significance	rs376692989	RCV005928907
PPP1R21-related disorder	Benign; Uncertain significance; Likely benign	rs76587580, rs368074104, rs2528902943, rs770948633, rs567807021, rs142364482, rs756430637, rs201118156, rs1431795554, rs753383553, rs139527974, rs143067822, rs764074898, rs148229375, rs150896282, rs141303876, rs149438258 View all (2 more)	RCV003984011 RCV003403012 RCV003408793 RCV003898994 RCV003923989 RCV003901859 RCV003904082 RCV003967269 RCV003977077 RCV003934582 RCV003961678 RCV003919444 RCV003961409 RCV003922247 RCV003976969 RCV003971777 RCV003958079

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

PPP1R21 (protein phosphatase 1 regulatory subunit 21)