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STX1B (syntaxin 1B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112755
Gene nameGene Name - the full gene name approved by the HGNC.
Syntaxin 1B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STX1B
SynonymsGene synonyms aliases
GEFSP9, STX1B1, STX1B2
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038244 hsa-miR-330-5p CLASH 23622248
MIRT712025 hsa-miR-802 HITS-CLIP 19536157
MIRT712024 hsa-miR-545-5p HITS-CLIP 19536157
MIRT712023 hsa-miR-6072 HITS-CLIP 19536157
MIRT712022 hsa-miR-6891-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA 21873635
GO:0001956 Process Positive regulation of neurotransmitter secretion ISS
GO:0005102 Function Signaling receptor binding IEA
GO:0005484 Function SNAP receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
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.
 
KEGG
 
Reactome
  SNARE interactions in vesicular transport
Synaptic vesicle cycle
  Toxicity of botulinum toxin type C (BoNT/C)
LGI-ADAM interactions
Associated diseases
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
Developmental regression Developmental regression rs1224421127
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
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety
Cortical dysplasia Cortical Dysplasia
Dyscognitive seizures Complex partial seizure with impairment of consciousness
Hypotonic seizures Epileptic drop attack

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