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	8497
Gene name	PPFI scaffold protein A4
Gene symbol	PPFIA4
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1q32.1
Summary	PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

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Show/Hide all (106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018203	hsa-miR-335-5p	Microarray	18185580
MIRT030881	hsa-miR-21-5p	Microarray	18591254
MIRT570917	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT570916	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT570915	hsa-miR-8089	PAR-CLIP	20371350
MIRT570914	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT570913	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT570911	hsa-miR-5589-5p	PAR-CLIP	20371350
MIRT570912	hsa-miR-5192	PAR-CLIP	20371350
MIRT570910	hsa-miR-6878-5p	PAR-CLIP	20371350
MIRT570909	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT570908	hsa-miR-8085	PAR-CLIP	20371350
MIRT570907	hsa-miR-4450	PAR-CLIP	20371350
MIRT570906	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT570905	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT570904	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT570903	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT570917	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT570916	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT570915	hsa-miR-8089	PAR-CLIP	20371350
MIRT570914	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT570913	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT570911	hsa-miR-5589-5p	PAR-CLIP	20371350
MIRT570912	hsa-miR-5192	PAR-CLIP	20371350
MIRT570910	hsa-miR-6878-5p	PAR-CLIP	20371350
MIRT570909	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT570908	hsa-miR-8085	PAR-CLIP	20371350
MIRT570907	hsa-miR-4450	PAR-CLIP	20371350
MIRT570906	hsa-miR-30c-1-3p	PAR-CLIP	20371350
MIRT570905	hsa-miR-30c-2-3p	PAR-CLIP	20371350
MIRT570904	hsa-miR-6788-5p	PAR-CLIP	20371350
MIRT570903	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT1252471	hsa-miR-1200	CLIP-seq
MIRT1252472	hsa-miR-1228	CLIP-seq
MIRT1252473	hsa-miR-129-3p	CLIP-seq
MIRT1252474	hsa-miR-185	CLIP-seq
MIRT1252475	hsa-miR-198	CLIP-seq
MIRT1252476	hsa-miR-199a-3p	CLIP-seq
MIRT1252477	hsa-miR-199b-3p	CLIP-seq
MIRT1252478	hsa-miR-2467-3p	CLIP-seq
MIRT1252479	hsa-miR-3125	CLIP-seq
MIRT1252480	hsa-miR-3126-5p	CLIP-seq
MIRT1252481	hsa-miR-3129-5p	CLIP-seq
MIRT1252482	hsa-miR-3150b-3p	CLIP-seq
MIRT1252483	hsa-miR-3154	CLIP-seq
MIRT1252484	hsa-miR-3179	CLIP-seq
MIRT1252485	hsa-miR-3202	CLIP-seq
MIRT1252486	hsa-miR-329	CLIP-seq
MIRT1252487	hsa-miR-342-3p	CLIP-seq
MIRT1252488	hsa-miR-362-3p	CLIP-seq
MIRT1252489	hsa-miR-3675-5p	CLIP-seq
MIRT1252490	hsa-miR-3916	CLIP-seq
MIRT1252491	hsa-miR-3941	CLIP-seq
MIRT1252492	hsa-miR-4271	CLIP-seq
MIRT1252493	hsa-miR-4306	CLIP-seq
MIRT1252494	hsa-miR-4419a	CLIP-seq
MIRT1252495	hsa-miR-4476	CLIP-seq
MIRT1252496	hsa-miR-4510	CLIP-seq
MIRT1252497	hsa-miR-4644	CLIP-seq
MIRT1252498	hsa-miR-4687-5p	CLIP-seq
MIRT1252499	hsa-miR-4689	CLIP-seq
MIRT1252500	hsa-miR-4710	CLIP-seq
MIRT1252501	hsa-miR-4725-3p	CLIP-seq
MIRT1252502	hsa-miR-4747-5p	CLIP-seq
MIRT1252503	hsa-miR-4784	CLIP-seq
MIRT1252504	hsa-miR-579	CLIP-seq
MIRT1252505	hsa-miR-603	CLIP-seq
MIRT1252506	hsa-miR-660	CLIP-seq
MIRT1252507	hsa-miR-765	CLIP-seq
MIRT1252508	hsa-miR-936	CLIP-seq
MIRT1252480	hsa-miR-3126-5p	CLIP-seq
MIRT1252482	hsa-miR-3150b-3p	CLIP-seq
MIRT1252494	hsa-miR-4419a	CLIP-seq
MIRT1252496	hsa-miR-4510	CLIP-seq
MIRT1252499	hsa-miR-4689	CLIP-seq
MIRT1252500	hsa-miR-4710	CLIP-seq
MIRT1252503	hsa-miR-4784	CLIP-seq
MIRT1252474	hsa-miR-185	CLIP-seq
MIRT2074390	hsa-miR-18a	CLIP-seq
MIRT2074391	hsa-miR-18b	CLIP-seq
MIRT1252483	hsa-miR-3154	CLIP-seq
MIRT1252484	hsa-miR-3179	CLIP-seq
MIRT2074392	hsa-miR-3194-3p	CLIP-seq
MIRT2074393	hsa-miR-3907	CLIP-seq
MIRT1252492	hsa-miR-4271	CLIP-seq
MIRT1252493	hsa-miR-4306	CLIP-seq
MIRT2074394	hsa-miR-4427	CLIP-seq
MIRT1252497	hsa-miR-4644	CLIP-seq
MIRT2074395	hsa-miR-4680-3p	CLIP-seq
MIRT1252501	hsa-miR-4725-3p	CLIP-seq
MIRT2074396	hsa-miR-4735-3p	CLIP-seq
MIRT2074397	hsa-miR-4736	CLIP-seq
MIRT2074398	hsa-miR-4761-5p	CLIP-seq
MIRT2074399	hsa-miR-4790-3p	CLIP-seq
MIRT2074400	hsa-miR-513c	CLIP-seq
MIRT2074401	hsa-miR-514b-5p	CLIP-seq
MIRT2301317	hsa-miR-451b	CLIP-seq
MIRT2392884	hsa-miR-4505	CLIP-seq
MIRT2456995	hsa-miR-1252	CLIP-seq
MIRT2456996	hsa-miR-335	CLIP-seq
MIRT2456997	hsa-miR-3620	CLIP-seq
MIRT2456998	hsa-miR-3663-3p	CLIP-seq
MIRT2456995	hsa-miR-1252	CLIP-seq
MIRT2456996	hsa-miR-335	CLIP-seq
MIRT2456997	hsa-miR-3620	CLIP-seq
MIRT2456998	hsa-miR-3663-3p	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12923177
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0009986	Component	Cell surface	IEA
GO:0045202	Component	Synapse	ISS
GO:0048786	Component	Presynaptic active zone	IBA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0050808	Process	Synapse organization	IBA

MIM	HGNC	e!Ensembl
603145	9248	ENSG00000143847

O75335

Protein name

Liprin-alpha-4 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4) (PTPRF-interacting protein alpha-4)

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	827 → 892	SAM domain (Sterile alpha motif)	Domain
PF00536	SAM_1	942 → 1006	SAM domain (Sterile alpha motif)	Domain
PF07647	SAM_2	1029 → 1099	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed only in the heart, brain, and skeletal muscle. {ECO:0000269|PubMed:9624153}.

Sequence

MCEVMPTINEGDRLGPPHGADADANFEQLMVNMLDEREKLLESLRESQETLAATQSRLQD
AIHERDQLQRHLNSALPQEFATLTRELSMCREQLLEREEEISELKAERNNTRLLLEHLEC
LVSRHERSLRMTVVKRQAQSPSGVSSEVEVLKALKSLFEHHKALDEKVRERLRAALERVT
TLEEQLAGAHQQVSALQQGAGVRDGAAEEEGTVELGPKRLWKEDTGRVEELQELLEKQNF
ELSQARERLVTLTTTVTELEEDLGTARRDLIKSEELSSKHQRDLREALAQKEDMEERITT
LEKRYLAAQREATSIHDLNDKLENELANKESLHRQCEEKARHLQELLEVAEQKLQQTMRK
AETLPEVEAELAQRIAALTKAEERHGNIEEHLRQLEGQLEEKNQELARTAVQVRQREKMN
EDHNKRLSDTVDRLLSESNERLQLHLKERMAALEEKNTLIQELESSQRQIEEQHHHKGRL
SEEIEKLRQEVDQLKGRGGPFVDGVHSRSHMGSAADVRFSLGTTTHAPPGVHRRYSALRE
ESAKLALPLTVTLRSPTWMRMSQGVCCNLEYHSSGTLCGSSGPLPVPEMIQEEKESTELR
AEEIETRVTSGSMEALNLKQLRKRGSIPTSLTALSLASASPPLSGRSTPKLTSRSAAQDL
DRMGVMTLPSDLRKHRRKLLSPVSREENREDKATIKCETSPPSSPRTLRLEKLGHPALSQ
EEGKSALEDQGSNPSSSNSSQDSLHKGAKRKGIKSSIGRLFGKKEKGRLIQLSRDGATGH
VLLTDSEFSMQEPMVPAKLGTQAEKDRRLKKKHQLLEDARRKGMPFAQWDGPTVVSWLEL
WVGMPAWYVAACRANVKSGAIMSALSDTEIQREIGISNALHRLKLRLAIQEMVSLTSPSA
PPTSRTSSGNVWVTHEEMETLETSTKTDSEEGSWAQTLAYGDMNHEWIGNEWLPSLGLPQ
YRSYFMECLVDARMLDHLTKKDLRVHLKMVDSFHRTSLQYGIMCLKRLNYDRKELEKRRE
ESQHEIKDVLVWTNDQVVHWVQSIGLRDYAGNLHESGVHGALLALDENFDHNTLALILQI
PTQNTQARQVMEREFNNLLALGTDRKLDDGDDKVFRRAPSWRKRFRPREHHGRGGMLSAS
AETLPAGFRVSTLGTLQPPPAPPKKIMPEAHSHYLYGHMLSAFRD

Sequence length

1185

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 Unknown Diseases (5)

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.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416822, 28460022, 29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36362375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35793981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36362375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29187440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29187440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20599943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30842147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35791307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PPFIA4 (PPFI scaffold protein A4)