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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83483
Gene name	Plasmalemma vesicle associated protein
Gene symbol	PLVAP
Synonyms (NCBI Gene)	DIAR10FELSPV-1PV1gp68
Chromosome	19
Chromosome location	19p13.11

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199712527	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs761158492	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1568378665	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments
MIRT1243327	hsa-miR-1207-5p	CLIP-seq
MIRT1243328	hsa-miR-1275	CLIP-seq
MIRT1243329	hsa-miR-1305	CLIP-seq
MIRT1243330	hsa-miR-3135b	CLIP-seq
MIRT1243331	hsa-miR-3180	CLIP-seq
MIRT1243332	hsa-miR-3180-3p	CLIP-seq
MIRT1243333	hsa-miR-3196	CLIP-seq
MIRT1243334	hsa-miR-3652	CLIP-seq
MIRT1243335	hsa-miR-3689a-3p	CLIP-seq
MIRT1243336	hsa-miR-3689c	CLIP-seq
MIRT1243337	hsa-miR-3689d	CLIP-seq
MIRT1243338	hsa-miR-3960	CLIP-seq
MIRT1243339	hsa-miR-4430	CLIP-seq
MIRT1243340	hsa-miR-4459	CLIP-seq
MIRT1243341	hsa-miR-4467	CLIP-seq
MIRT1243342	hsa-miR-4488	CLIP-seq
MIRT1243343	hsa-miR-4514	CLIP-seq
MIRT1243344	hsa-miR-4665-5p	CLIP-seq
MIRT1243345	hsa-miR-4692	CLIP-seq
MIRT1243346	hsa-miR-4695-5p	CLIP-seq
MIRT1243347	hsa-miR-4697-5p	CLIP-seq
MIRT1243348	hsa-miR-4728-5p	CLIP-seq
MIRT1243349	hsa-miR-4731-5p	CLIP-seq
MIRT1243350	hsa-miR-4763-3p	CLIP-seq
MIRT1243351	hsa-miR-4779	CLIP-seq
MIRT1243352	hsa-miR-485-5p	CLIP-seq
MIRT1243353	hsa-miR-665	CLIP-seq
MIRT1243354	hsa-miR-765	CLIP-seq
MIRT1243355	hsa-miR-940	CLIP-seq
MIRT1243356	hsa-miR-95	CLIP-seq
MIRT1243348	hsa-miR-4728-5p	CLIP-seq
MIRT1243327	hsa-miR-1207-5p	CLIP-seq
MIRT1243329	hsa-miR-1305	CLIP-seq
MIRT1243343	hsa-miR-4514	CLIP-seq
MIRT1243345	hsa-miR-4692	CLIP-seq
MIRT1243350	hsa-miR-4763-3p	CLIP-seq
MIRT1243355	hsa-miR-940	CLIP-seq
MIRT1243356	hsa-miR-95	CLIP-seq
MIRT1243330	hsa-miR-3135b	CLIP-seq
MIRT1243334	hsa-miR-3652	CLIP-seq
MIRT1243339	hsa-miR-4430	CLIP-seq
MIRT1243340	hsa-miR-4459	CLIP-seq
MIRT1243346	hsa-miR-4695-5p	CLIP-seq
MIRT1243351	hsa-miR-4779	CLIP-seq
MIRT1243352	hsa-miR-485-5p	CLIP-seq
MIRT1243353	hsa-miR-665	CLIP-seq
MIRT1243354	hsa-miR-765	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IDA	15155804
GO:0002693	Process	Positive regulation of cellular extravasation	IBA
GO:0002693	Process	Positive regulation of cellular extravasation	IMP	19420356
GO:0005515	Function	Protein binding	IPI	19420356, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IDA	19420356
GO:0005901	Component	Caveola	IDA	15155804
GO:0005901	Component	Caveola	IEA
GO:0009986	Component	Cell surface	IDA	15155804, 19420356
GO:0016020	Component	Membrane	IEA
GO:0032502	Process	Developmental process	ISS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	19420356
GO:0042802	Function	Identical protein binding	IEA
GO:0043114	Process	Regulation of vascular permeability	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
607647	13635	ENSG00000130300

Q9BX97

Protein name

Plasmalemma vesicle-associated protein (Fenestrated endothelial-linked structure protein) (Plasmalemma vesicle protein 1) (PV-1)

Protein function

Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular perm

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06637	PV-1	1 → 440	PV-1 protein (PLVAP)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium. {ECO:0000269|PubMed:11401446, ECO:

Sequence

MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNL
QATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQ
GDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICT
KDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNL
WRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARE
NSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDN
LAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEE
FKRKILESQRPPAGIPVAPSSG

Sequence length

442

Interactions

View interactions

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diarrhea 10, protein-losing enteropathy type	Likely pathogenic; Pathogenic	rs2513228819, rs761158492, rs199712527, rs1568378665	RCV003227568 RCV000721165 RCV000721166 RCV000721167	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DIARRHEA 7 WITH EXUDATIVE ENTEROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL A BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLVAP-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	1710610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	16278383		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30231925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30231925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15277233	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30193086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30231925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	1353704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	17617859, 40033218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	34280928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	20852631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30231925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	29661969, 29875123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	17617859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31026444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30193086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31054930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PLVAP (plasmalemma vesicle associated protein)