Property Summary

NCBI Gene PubMed Count 31
PubMed Score 69.26
PubTator Score 42.15

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
ovarian cancer 8492 1.20147930650234E-11
osteosarcoma 7933 7.61636848279853E-6
psoriasis 6685 2.82077956751772E-4
group 3 medulloblastoma 2254 0.00212679697901886
subependymal giant cell astrocytoma 2287 0.0158405437174241
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 28 0.0 4.0
Disease Target Count Z-score Confidence
Botulism 20 5.815 2.9
Episodic ataxia type 2 5 3.077 1.5

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis 1.400 0.000
osteosarcoma 1.629 0.000
group 3 medulloblastoma -1.700 0.002
subependymal giant cell astrocytoma -1.717 0.016
ovarian cancer 1.900 0.000

Synonym

Accession Q8N9I0 Q496K5 Q8NBE5
Symbols CMS7
MYSPC
SytII

Gene

  Ortholog (9)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG
C. elegans OMA Inparanoid
Fruitfly OMA Inparanoid

Gene RIF (9)

PMID Text
26519543 SYT2 mutations cause a novel complex presynaptic congenital myasthenic syndrome characterized by motor neuropathy causing lower limb wasting and foot deformities, reflex potentiation following exercise and a prolonged period of posttetanic potentiation
25192047 Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
22454523 Human SytII is not an effective receptor for Botulinum neurotoxin D-C.
22265973 synaptotagmin-II is not a high affinity receptor for BoNT/B and G due to a phenylalanine to leucine mutation in its luminal domain present only in humans and chimpanzees
19709630 Mutation of overexpressed Syt2 transgene leaves intrinsic calcium sensitivity of vesicles intact while it destabilizes the readily releasable pool of vesicles and loosens the tight coupling between calcium influx and release.
18639519 A recombinant fragment from the luminal domain of the human receptor protein syt II can bind specifically to botulinum neurotoxin B and its Hc domain.
15350218 WNK1 selectively binds to and phosphorylates synaptotagmin 2 (Syt2) within its calcium binding C2 domains. Endogenous WNK1 and Syt2 coimmunoprecipitate and colocalize on a subset of secretory granules in INS-1 cells.
14709554 both synaptotagmins I and II can interact with the syntaxin/synaptosomal-associated protein of 25 kDa (SNAP-25) dimer
12063179 role for synaptotagmin II as calcium-sensor during phagocytosis and secretion in neutrophils

AA Sequence

MRNIFKRNQEPIVAPATTTATMPIGPVDNSTESGGAGESQEDMFAKLKEKLFNEINKIPLPPWALIAIAV      1 - 70
VAGLLLLTCCFCICKKCCCKKKKNKKEKGKGMKNAMNMKDMKGGQDDDDAETGLTEGEGEGEEEKEPENL     71 - 140
GKLQFSLDYDFQANQLTVGVLQAAELPALDMGGTSDPYVKVFLLPDKKKKYETKVHRKTLNPAFNETFTF    141 - 210
KVPYQELGGKTLVMAIYDFDRFSKHDIIGEVKVPMNTVDLGQPIEEWRDLQGGEKEEPEKLGDICTSLRY    211 - 280
VPTAGKLTVCILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTVKKKTLNPYFNESFSFEIPFEQI    281 - 350
QKVQVVVTVLDYDKLGKNEAIGKIFVGSNATGTELRHWSDMLANPRRPIAQWHSLKPEEEVDALLGKNK     351 - 419
//

Text Mined References (30)

PMID Year Title
26519543 2015 Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
25192047 2014 Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
23999003 2013 SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.
23936387 2013 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
22939005 2013 Evaluation of common variants in 16 genes involved in the regulation of neurotransmitter release in ADHD.
22454523 2012 Botulinum neurotoxin D-C uses synaptotagmin I and II as receptors, and human synaptotagmin II is not an effective receptor for type B, D-C and G toxins.
22265973 2012 Human synaptotagmin-II is not a high affinity receptor for botulinum neurotoxin B and G: increased therapeutic dosage and immunogenicity.
19709630 2009 Synaptotagmin has an essential function in synaptic vesicle positioning for synchronous release in addition to its role as a calcium sensor.
19234194 2009 Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery.
19234085 2009 Zea mays annexins modulate cytosolic free Ca2+ and generate a Ca2+-permeable conductance.
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