SYNPR (synaptoporin)

Gene

• Entrez ID: 132204
• Gene name: Synaptoporin
• Gene symbol: SYNPR
• Synonyms: SPO
• Chromosome: 3
• Chromosome location: 3p14.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017484	hsa-miR-335-5p	Microarray	18185580
MIRT052365	hsa-let-7a-5p	CLASH	23622248
MIRT050282	hsa-miR-25-3p	CLASH	23622248
MIRT049284	hsa-miR-92a-3p	CLASH	23622248
MIRT037207	hsa-miR-877-5p	CLASH	23622248
MIRT036821	hsa-miR-877-3p	CLASH	23622248
MIRT1406714	hsa-miR-186	CLIP-seq
MIRT1406715	hsa-miR-3161	CLIP-seq
MIRT1406716	hsa-miR-3973	CLIP-seq
MIRT1406717	hsa-miR-450b-5p	CLIP-seq
MIRT1406718	hsa-miR-4762-3p	CLIP-seq
MIRT1406719	hsa-miR-4775	CLIP-seq
MIRT1406720	hsa-miR-489	CLIP-seq
MIRT1406721	hsa-miR-518a-5p	CLIP-seq
MIRT1406722	hsa-miR-526b	CLIP-seq
MIRT1406723	hsa-miR-527	CLIP-seq
MIRT1406724	hsa-miR-548l	CLIP-seq
MIRT1406725	hsa-miR-578	CLIP-seq
MIRT1406726	hsa-miR-590-3p	CLIP-seq
MIRT2121959	hsa-miR-3591-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0017075	Function	Syntaxin-1 binding	IBA	21873635
GO:0030285	Component	Integral component of synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0043005	Component	Neuron projection	IEA

Other IDs

• MIM: HGNC
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8TBG9
• Protein name: Synaptoporin
• Protein function: Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01284	MARVEL	2 → 196	Membrane-associating domain	Domain

• Sequence:

  MCMVIFAPLFAIFAFATCGGYSGGLRLSVDCVNKTESNLSIDIAFAYPFRLHQVTFEVPT
  CEGKERQKLALIGDSSSSAEFFVTVAVFAFLYSLAATVVYIFFQNKYRENNRGPLIDFIV
  TVVFSFLWLVGSSAWAKGLSDVKVATDPKEVLLLMSACKQPSNKCMAIHSPVMSSLNTSV
  VFGFLNFILWAGNIWFVFKETGWHSSGQRYLSDPMEKHSSSYNQGGYNQDSYGSSSGYSQ
  QASLGPTSDEFGQQPTGPTSFTNQI

• Sequence length: 265

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
Hypoplastic left heart syndrome	HYPOPLASTIC LEFT HEART SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2	rs1554284604, rs1843006535	25138779