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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	83483
Gene name Gene Name - the full gene name approved by the HGNC.	Plasmalemma vesicle associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLVAP
Synonyms (NCBI Gene) Gene synonyms aliases	DIAR10, FELS, PV-1, PV1, gp68
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DIAR10
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IDA	15155804
GO:0002693	Process	Positive regulation of cellular extravasation	IMP	19420356
GO:0005515	Function	Protein binding	IPI	19420356, 32296183
GO:0005901	Component	Caveola	IDA	15155804
GO:0005901	Component	Caveola	IDA	19420356
GO:0009986	Component	Cell surface	IDA	15155804, 19420356
GO:0016021	Component	Integral component of 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:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070528	Process	Protein kinase C signaling	IDA	15155804

MIM	HGNC	e!Ensembl
607647	13635	ENSG00000130300

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)	20852631
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Protein-losing enteropathy	Protein-Losing Enteropathies	rs1114167430, rs1135402914, rs1135402915, rs1135402916, rs1135402917, rs1135402918

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia		ClinVar
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
Bacterial Infections	Stimulate	34112226
Glioma	Stimulate	15277233
Glucosephosphate Dehydrogenase Deficiency	Associate	36914857
Head and Neck Neoplasms	Associate	30193086
Helicobacter Infections	Stimulate	35905420
Hemangioma Cavernous Central Nervous System	Associate	36914857
Kidney Diseases	Associate	17617859, 40033218
Liver Cirrhosis	Associate	34280928
Neoplasms	Associate	30193086, 31747953
Neoplasms	Inhibit	31054930
Niemann Pick Disease Type A	Associate	37341882
Proteinuria	Associate	17617859
Squamous Cell Carcinoma of Head and Neck	Associate	30193086
Urinary Bladder Neoplasms	Associate	31054930

PLVAP (plasmalemma vesicle associated protein)