PLVAP (plasmalemma vesicle associated protein)

Gene

• Entrez ID: 83483
• Gene name: Plasmalemma vesicle associated protein
• Gene symbol: PLVAP
• Synonyms: DIAR10, FELS, PV-1, PV1, gp68
• Chromosome: 19
• Chromosome location: 19p13.11

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 607647
• HGNC: 13635
• e!Ensembl: 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

• Sequence:

  MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNL
  QATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQ
  GDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICT
  KDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNL
  WRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARE
  NSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDN
  LAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEE
  FKRKILESQRPPAGIPVAPSSG

• Sequence length: 442

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	20852631
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Protein-losing enteropathy	Protein-Losing Enteropathies	rs1114167430, rs1135402914, rs1135402915, rs1135402916, rs1135402917, rs1135402918
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	rs387907123

Unknown
Disease name	Disease term	dbSNP ID	References
Hypoalbuminemia	Hypoalbuminemia
Liver carcinoma	Liver carcinoma		28284560
Pericardial effusion	Pericardial effusion
Pleural effusion	Pleural effusion disorder