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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8541
Gene name	PPFI scaffold protein A3
Gene symbol	PPFIA3
Synonyms (NCBI Gene)	LPNA3NEDPACH
Chromosome	19
Chromosome location	19q13.33
Summary	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon

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miRTarBase ID	miRNA	Experiments	Reference
MIRT489131	hsa-miR-602	PAR-CLIP	23592263
MIRT489129	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT489130	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT489128	hsa-miR-4462	PAR-CLIP	23592263
MIRT489127	hsa-miR-4419a	PAR-CLIP	23592263
MIRT489126	hsa-miR-4510	PAR-CLIP	23592263
MIRT489125	hsa-miR-6127	PAR-CLIP	23592263
MIRT489124	hsa-miR-6129	PAR-CLIP	23592263
MIRT489123	hsa-miR-6130	PAR-CLIP	23592263
MIRT489122	hsa-miR-6133	PAR-CLIP	23592263
MIRT489121	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT489119	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT489120	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT489118	hsa-miR-8085	PAR-CLIP	23592263
MIRT489117	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489116	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489115	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489114	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489113	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT489111	hsa-miR-5698	PAR-CLIP	23592263
MIRT489112	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT489110	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT489131	hsa-miR-602	PAR-CLIP	23592263
MIRT489129	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT489130	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT489128	hsa-miR-4462	PAR-CLIP	23592263
MIRT489127	hsa-miR-4419a	PAR-CLIP	23592263
MIRT489126	hsa-miR-4510	PAR-CLIP	23592263
MIRT489125	hsa-miR-6127	PAR-CLIP	23592263
MIRT489124	hsa-miR-6129	PAR-CLIP	23592263
MIRT489123	hsa-miR-6130	PAR-CLIP	23592263
MIRT489122	hsa-miR-6133	PAR-CLIP	23592263
MIRT489121	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT489119	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT489120	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT489118	hsa-miR-8085	PAR-CLIP	23592263
MIRT489117	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489116	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489115	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489114	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489113	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT489111	hsa-miR-5698	PAR-CLIP	23592263
MIRT489112	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT489110	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1252453	hsa-miR-1206	CLIP-seq
MIRT1252454	hsa-miR-1252	CLIP-seq
MIRT1252455	hsa-miR-145	CLIP-seq
MIRT1252456	hsa-miR-1910	CLIP-seq
MIRT1252457	hsa-miR-296-5p	CLIP-seq
MIRT1252458	hsa-miR-3185	CLIP-seq
MIRT1252459	hsa-miR-3607-5p	CLIP-seq
MIRT1252460	hsa-miR-3663-5p	CLIP-seq
MIRT1252461	hsa-miR-3679-3p	CLIP-seq
MIRT1252462	hsa-miR-4264	CLIP-seq
MIRT1252463	hsa-miR-4527	CLIP-seq
MIRT1252464	hsa-miR-455-3p	CLIP-seq
MIRT1252465	hsa-miR-4667-3p	CLIP-seq
MIRT1252466	hsa-miR-4738-3p	CLIP-seq
MIRT1252467	hsa-miR-4797-3p	CLIP-seq
MIRT1252468	hsa-miR-503	CLIP-seq
MIRT1252469	hsa-miR-635	CLIP-seq
MIRT1252470	hsa-miR-7	CLIP-seq
MIRT2074360	hsa-miR-1245b-3p	CLIP-seq
MIRT2074361	hsa-miR-1307	CLIP-seq
MIRT2074362	hsa-miR-1469	CLIP-seq
MIRT2074363	hsa-miR-150	CLIP-seq
MIRT2074364	hsa-miR-15a	CLIP-seq
MIRT2074365	hsa-miR-15b	CLIP-seq
MIRT2074366	hsa-miR-16	CLIP-seq
MIRT2074367	hsa-miR-1908	CLIP-seq
MIRT1252456	hsa-miR-1910	CLIP-seq
MIRT2074368	hsa-miR-195	CLIP-seq
MIRT2074369	hsa-miR-3180	CLIP-seq
MIRT2074370	hsa-miR-3180-3p	CLIP-seq
MIRT2074371	hsa-miR-3188	CLIP-seq
MIRT2074372	hsa-miR-3196	CLIP-seq
MIRT2074373	hsa-miR-424	CLIP-seq
MIRT2074374	hsa-miR-4285	CLIP-seq
MIRT2074375	hsa-miR-4316	CLIP-seq
MIRT2074376	hsa-miR-4488	CLIP-seq
MIRT2074377	hsa-miR-4524	CLIP-seq
MIRT2074378	hsa-miR-4532	CLIP-seq
MIRT2074379	hsa-miR-4634	CLIP-seq
MIRT2074380	hsa-miR-4649-5p	CLIP-seq
MIRT2074381	hsa-miR-4697-5p	CLIP-seq
MIRT2074382	hsa-miR-4707-5p	CLIP-seq
MIRT2074383	hsa-miR-4710	CLIP-seq
MIRT2074384	hsa-miR-4713-5p	CLIP-seq
MIRT2074385	hsa-miR-4717-5p	CLIP-seq
MIRT2074386	hsa-miR-497	CLIP-seq
MIRT1252468	hsa-miR-503	CLIP-seq
MIRT2074387	hsa-miR-532-3p	CLIP-seq
MIRT2074388	hsa-miR-646	CLIP-seq
MIRT2074389	hsa-miR-663	CLIP-seq
MIRT2301312	hsa-miR-1280	CLIP-seq
MIRT2301313	hsa-miR-1913	CLIP-seq
MIRT2301314	hsa-miR-324-3p	CLIP-seq
MIRT2301315	hsa-miR-361-3p	CLIP-seq
MIRT2301316	hsa-miR-4313	CLIP-seq
MIRT2074361	hsa-miR-1307	CLIP-seq
MIRT2074362	hsa-miR-1469	CLIP-seq
MIRT1252456	hsa-miR-1910	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IDA	23124857
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	12923177, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007269	Process	Neurotransmitter secretion	ISS
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016081	Process	Synaptic vesicle docking	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	ISS
GO:0048786	Component	Presynaptic active zone	IBA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0050808	Process	Synapse organization	IBA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098875	Component	Epididymosome	ISS
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
603144	9247	ENSG00000177380

O75145

Protein name

Liprin-alpha-3 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3) (PTPRF-interacting protein alpha-3)

Protein function

May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association wi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00536	SAM_1	836 → 901	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	951 → 1015	SAM domain (Sterile alpha motif)	Domain
PF07647	SAM_2	1038 → 1108	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in brain (PubMed:9624153). Also detected in sperm (at protein level) (PubMed:23124857). {ECO:0000269|PubMed:23124857, ECO:0000269|PubMed:9624153}.

Sequence

MMCEVMPTISEDGRRGSALGPDEAGGELERLMVTMLTERERLLETLREAQDGLATAQLRL
RELGHEKDSLQRQLSIALPQEFAALTKELNLCREQLLEREEEIAELKAERNNTRLLLEHL
ECLVSRHERSLRMTVVKRQAQSPGGVSSEVEVLKALKSLFEHHKALDEKVRERLRMALER
VAVLEEELELSNQETLNLREQLSRRRSGLEEPGKDGDGQTLANGLGPGGDSNRRTAELEE
ALERQRAEVCQLRERLAVLCRQMSQLEEELGTAHRELGKAEEANSKLQRDLKEALAQRED
MEERITTLEKRYLSAQREATSLHDANDKLENELASKESLYRQSEEKSRQLAEWLDDAKQK
LQQTLQKAETLPEIEAQLAQRVAALNKAEERHGNFEERLRQLEAQLEEKNQELQRARQRE
KMNDDHNKRLSETVDKLLSESNERLQLHLKERMGALEEKNSLSEEIANMKKLQDELLLNK
EQLLAEMERMQMEIDQLRGRPPSSYSRSLPGSALELRYSQAPTLPSGAHLDPYVAGSGRA
GKRGRWSGVKEEPSKDWERSAPAGSIPPPFPGELDGSDEEEAEGMFGAELLSPSGQADVQ
TLAIMLQEQLEAINKEIKLIQEEKETTEQRAEELESRVSSSGLDSLGRYRSSCSLPPSLT
TSTLASPSPPSSGHSTPRLAPPSPAREGTDKANHVPKEEAGAPRGEGPAIPGDTPPPTPR
SARLERMTQALALQAGSLEDGGPPRGSEGTPDSLHKAPKKKSIKSSIGRLFGKKEKGRMG
PPGRDSSSLAGTPSDETLATDPLGLAKLTGPGDKDRRNKRKHELLEEACRQGLPFAAWDG
PTVVSWLELWVGMPAWYVAACRANVKSGAIMANLSDTEIQREIGISNPLHRLKLRLAIQE
MVSLTSPSAPASSRTSTGNVWMTHEEMESLTATTKPETKEISWEQILAYGDMNHEWVGND
WLPSLGLPQYRSYFMESLVDARMLDHLNKKELRGQLKMVDSFHRVSLHYGIMCLKRLNYD
RKDLERRREESQTQIRDVMVWSNERVMGWVSGLGLKEFATNLTESGVHGALLALDETFDY
SDLALLLQIPTQNAQARQLLEKEFSNLISLGTDRRLDEDSAKSFSRSPSWRKMFREKDLR
GVTPDSAEMLPPNFRSAAAGALGSPGLPLRKLQPEGQTSGSSRADGVSVRTYSC

Sequence length

1194

Interactions

View interactions

	Reactome
			Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle Receptor-type tyrosine-protein phosphatases

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2513986316, rs2513998618	RCV003315464 RCV003315465	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAUL-CHAO NEURODEVELOPMENTAL SYNDROME	Likely pathogenic; Pathogenic	rs2513986316, rs2513949085, rs2513965447, rs372174640	RCV005239511 RCV005240700 RCV005240701 RCV005240712	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPFIA3-associated neurodevelopmental disorder	Pathogenic	rs2513955324	RCV003885429	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPFIA3-related disorder	Likely pathogenic; Pathogenic	rs777959324, rs1407858532, rs979564073, rs2513965447, rs372174640, rs2513949103, rs1398161401, rs1295875245, rs2513986270	RCV003319999 RCV003320000 RCV003320001 RCV003492820 RCV003327595 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27143812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27143812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27143812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PPFIA3 (PPFI scaffold protein A3)