PPFIBP2 (PPFIB scaffold protein 2)

Gene

• Entrez ID: 8495
• Gene name: PPFIB scaffold protein 2
• Gene symbol: PPFIBP2
• Synonyms (NCBI Gene): Cclp1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1252593	hsa-miR-124	CLIP-seq
MIRT1252594	hsa-miR-3714	CLIP-seq
MIRT1252595	hsa-miR-3910	CLIP-seq
MIRT1252596	hsa-miR-506	CLIP-seq
MIRT2074413	hsa-miR-1208	CLIP-seq
MIRT2074414	hsa-miR-668	CLIP-seq
MIRT2301318	hsa-miR-1206	CLIP-seq
MIRT2074413	hsa-miR-1208	CLIP-seq
MIRT1252593	hsa-miR-124	CLIP-seq
MIRT2301319	hsa-miR-1294	CLIP-seq
MIRT2301320	hsa-miR-3607-5p	CLIP-seq
MIRT2301321	hsa-miR-3692	CLIP-seq
MIRT1252594	hsa-miR-3714	CLIP-seq
MIRT2301322	hsa-miR-3907	CLIP-seq
MIRT1252595	hsa-miR-3910	CLIP-seq
MIRT2301323	hsa-miR-4318	CLIP-seq
MIRT2301324	hsa-miR-4436b-5p	CLIP-seq
MIRT2301325	hsa-miR-4699-5p	CLIP-seq
MIRT2301326	hsa-miR-4706	CLIP-seq
MIRT2301327	hsa-miR-4710	CLIP-seq
MIRT2301328	hsa-miR-4749-5p	CLIP-seq
MIRT2301329	hsa-miR-4787-5p	CLIP-seq
MIRT1252596	hsa-miR-506	CLIP-seq
MIRT2301330	hsa-miR-548q	CLIP-seq
MIRT2074414	hsa-miR-668	CLIP-seq
MIRT2301331	hsa-miR-744	CLIP-seq
MIRT2598107	hsa-miR-1287	CLIP-seq
MIRT2598108	hsa-miR-1915	CLIP-seq
MIRT2598109	hsa-miR-302f	CLIP-seq
MIRT2598110	hsa-miR-3135b	CLIP-seq
MIRT2598111	hsa-miR-3136-3p	CLIP-seq
MIRT2598112	hsa-miR-4731-3p	CLIP-seq
MIRT2598113	hsa-miR-4801	CLIP-seq
MIRT2598107	hsa-miR-1287	CLIP-seq
MIRT2598108	hsa-miR-1915	CLIP-seq
MIRT2598109	hsa-miR-302f	CLIP-seq
MIRT2598110	hsa-miR-3135b	CLIP-seq
MIRT2598111	hsa-miR-3136-3p	CLIP-seq
MIRT2598112	hsa-miR-4731-3p	CLIP-seq
MIRT2598113	hsa-miR-4801	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19447967, 26871637, 32296183, 33961781
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0042802	Function	Identical protein binding	IDA	21462929
GO:0048786	Component	Presynaptic active zone	IBA
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 603142
• HGNC: 9250
• e!Ensembl: ENSG00000166387

Protein

• UniProt ID: Q8ND30
• Protein name: Liprin-beta-2 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2) (PTPRF-interacting protein-binding protein 2)
• Protein function: May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
• PDB: 3QH9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00536	SAM_1	556 → 620	SAM domain (Sterile alpha motif)	Domain
  PF00536	SAM_1	631 → 691	SAM domain (Sterile alpha motif)	Domain
  PF07647	SAM_2	715 → 785	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9624153}.
• Sequence:

  MASDASHALEAALEQMDGIIAGTKTGADLSDGTCEPGLASPASYMNPFPVLHLIEDLRLA
  LEMLELPQERAALLSQIPGPTAAYIKEWFEESLSQVNHHSAASNETYQERLARLEGDKES
  LILQVSVLTDQVEAQGEKIRDLEVCLEGHQVKLNAAEEMLQQELLSRTSLETQKLDLMTE
  VSELKLKLVGMEKEQREQEEKQRKAEELLQELRHLKIKVEELENERNQYEWKLKATKAEV
  AQLQEQVALKDAEIERLHSQLSRTAALHSESHTERDQEIQRLKMGMETLLLANEDKDRRI
  EELTGLLNQYRKVKEIVMVTQGPSERTLSINEEEPEGGFSKWNATNKDPEELFKQEMPPR
  CSSPTVGPPPLPQKSLETRAQKKLSCSLEDLRSESVDKCMDGNQPFPVLEPKDSPFLAEH
  KYPTLPGKLSGATPNGEAAKSPPTICQPDATGSSLLRLRDTESGWDDTAVVNDLSSTSSG
  TESGPQSPLTPDGKRNPKGIKKFWGKIRRTQSGNFYTDTLGMAEFRRGGLRATAGPRLSR
  TRDSKGQKSDANAPFAQWSTERVCAWLEDFGLAQYVIFARQWVSSGHTLLTATPQDMEKE
  LGIKHPLHRKKLVLAVKAINTKQEEKSALLDHIWVTRWLDDIGLPQYKDQFHESRVDRRM
  LQYLTVNDLLFLKVTSQLHHLSIKCAIHVLHVNKFNPHCLHRRPADESNLSPSEVVQWSN
  HRVMEWLRSVDLAEYAPNLRGSGVHGGLIILEPRFTGDTLAMLLNIPPQKTLLRRHLTTK
  FNALIGPEAEQEKREKMASPAYTPLTTTAKVRPRKLGFSHFGNIRKKKFDESTDYICPME
  PSDGVSDSHRVYSGYRGLSPLDAPELDGLDQVGQIS

• Sequence length: 876

Pathways

Reactome:

Receptor-type tyrosine-protein phosphatases

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Uncertain significance	rs143255201	RCV005929198
Lung cancer	Uncertain significance	rs143255201	RCV005929199
PPFIBP2-related disorder	Likely benign	rs140620299, rs148183299, rs147849861	RCV003957040 RCV003926969 RCV003932257

Associations from Text Mining
Disease Name	Relationship Type	References
Biliary Tract Neoplasms	Associate	37330435
Carotid Body Tumor	Associate	30967136
Cholangiocarcinoma	Associate	15855163, 26774260
Neoplasms	Associate	26774260