Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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112755 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Syntaxin 1B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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STX1B |
SynonymsGene synonyms aliases
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GEFSP9, STX1B1, STX1B2 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of t |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs200979563 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs724159973 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs724159974 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
rs727502806 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs763428520 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs780843272 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs781210585 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs886041666 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1114167275 |
->CAATGCACATCC |
Pathogenic |
Inframe indel, coding sequence variant |
rs1555493906 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555494222 |
A>T |
Likely-pathogenic |
Splice donor variant |
rs1555494259 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1567378099 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1567379470 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1567379671 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1596714308 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1596714579 |
CAA>- |
Likely-pathogenic |
Inframe indel, coding sequence variant |
rs1596714750 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1596716888 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1596717264 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1596719437 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P61266 |
Protein name |
Syntaxin-1B (Syntaxin-1B1) (Syntaxin-1B2) |
Protein function |
Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00804 |
Syntaxin |
29 → 226 |
Syntaxin |
Domain |
PF05739 |
SNARE |
227 → 279 |
SNARE domain |
Family |
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Sequence |
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Sequence length |
288 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic behavior |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
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Developmental regression |
Developmental regression |
rs1224421127 |
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Epilepsy |
Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy |
rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 |
25362483 |
Epilepsy with febrile seizures plus |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, Generalized epilepsy with febrile seizures-plus |
rs104894718, rs724159982, rs121918622, rs121918623, rs121917953, rs121917954, rs121917955, rs121917930, rs121918626, rs121918627, rs121918629, rs121918630, rs121918631, rs2105816922, rs121917957, rs121917993, rs121917994, rs121917980, rs121917981, rs121918781, rs121918782, rs121918784, rs121918734, rs121918775, rs121918789, rs121918811, rs121918744, rs121918783, rs398123588, rs587780446, rs724159973, rs200979563, rs724159974, rs727502806, rs794726739, rs794726726, rs794726759, rs794726784, rs794726821, rs794726744, rs767045134, rs794726730, rs786205214, rs786205830, rs796053043, rs796053035, rs796053004, rs796053001, rs796053000, rs796052988, rs796052987, rs779184118, rs796053091, rs1057518325, rs1057517862, rs1057517849, rs1064796384, rs1553522266, rs1553542421, rs1553521567, rs148442069, rs1567379671, rs780843272, rs1567378099, rs1559128483, rs146515561, rs1596714308, rs1596716888, rs1596717264, rs1596714579, rs796052964, rs781210585, rs1596719437, rs1553525358, rs1699353976, rs1696628056, rs1240187329, rs2056596353, rs2056626672, rs121918785 |
25362483 |
Febrile seizures |
Febrile Convulsions |
rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304 |
25362483 |
Generalized epilepsy with febrile seizures plus |
Generalized Epilepsy with Febrile Seizures Plus |
rs104894718, rs121434580, rs587777492, rs794729216, rs1561230486, rs1561139569, rs1561081319, rs1318391259, rs1561120793, rs1561230606 |
25362483 |
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
23143594, 25903422 |
Seizure |
Seizure, Febrile, Simple, Seizure, Febrile, Complex, Complex partial seizures, Tonic - clonic seizures |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 |
25362483 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
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Cortical dysplasia |
Cortical Dysplasia |
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Dyscognitive seizures |
Complex partial seizure with impairment of consciousness |
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Hypotonic seizures |
Epileptic drop attack |
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Impaired cognition |
Impaired cognition |
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Movement disorders |
Movement Disorders |
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27781031, 25362483, 8105537 |
Myoclonic seizures |
Generalized myoclonic seizures |
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Obtundation status |
Obtundation status |
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Psoriasis vulgaris |
Psoriasis vulgaris |
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26626624 |
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