Description: Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. RefSeq Summary (NM_014848): This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]. Transcript (Including UTRs) Position: hg19 chr15:91,643,182-91,844,539 Size: 201,358 Total Exon Count: 14 Strand: + Coding Region Position: hg19 chr15:91,769,494-91,835,782 Size: 66,289 Coding Exon Count: 12
ID:SV2B_HUMAN DESCRIPTION: RecName: Full=Synaptic vesicle glycoprotein 2B; FUNCTION: Probably plays a role in the control of regulated secretion in neural and endocrine cells (By similarity). SUBUNIT: Interacts with SYT1 in a calcium-independent manner. Forms a complex with SYT1, syntaxin-1 and SNAP25 (By similarity). SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome (By similarity). Note=Associated with synaptic-like microvesicles but not with insulin-containing vesicles in insulin-secreting cells of the pancreas. Localizes to microvesicles in the pinealocytes. Localizes to the acrosome in spermatids (By similarity). PTM: N-glycosylated (By similarity). PTM: The N-terminal cytoplasmic domain is phosphorylated by CK1 (By similarity). SIMILARITY: Belongs to the major facilitator superfamily. SEQUENCE CAUTION: Sequence=BAA34455.2; Type=Erroneous initiation;
Arthritis, Rheumatoid J Wang et al. The pharmacogenomics journal 2012, Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis., The pharmacogenomics journal.
[PubMed 22491018]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 103473 - MFS general substrate transporter
ModBase Predicted Comparative 3D Structure on Q7L1I2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK294902 - Homo sapiens cDNA FLJ50759 complete cds, highly similar to Synaptic vesicle glycoprotein 2B. BC030011 - Homo sapiens synaptic vesicle glycoprotein 2B, mRNA (cDNA clone MGC:26452 IMAGE:4826206), complete cds. AF052188 - Homo sapiens clone 24673 mRNA sequence. AB018278 - Homo sapiens KIAA0735 mRNA for KIAA0735 protein. JD130079 - Sequence 111103 from Patent EP1572962. JD182246 - Sequence 163270 from Patent EP1572962. CR457086 - Homo sapiens full open reading frame cDNA clone RZPDo834E0814D for gene SV2B, synaptic vesicle glycoprotein 2B; complete cds, incl. stopcodon. KJ898113 - Synthetic construct Homo sapiens clone ccsbBroadEn_07507 SV2B gene, encodes complete protein. AB383969 - Synthetic construct DNA, clone: pF1KSDA0735, Homo sapiens SV2B gene for synaptic vesicle glycoprotein 2B, complete cds, without stop codon, in Flexi system. DQ891614 - Synthetic construct clone IMAGE:100004244; FLH178639.01X; RZPDo839F05128D synaptic vesicle glycoprotein 2B (SV2B) gene, encodes complete protein. EU176590 - Synthetic construct Homo sapiens clone IMAGE:100011421; FLH178638.01L; RZPDo839G02254D synaptic vesicle glycoprotein 2B (SV2B) gene, encodes complete protein. JD495222 - Sequence 476246 from Patent EP1572962. JD276666 - Sequence 257690 from Patent EP1572962. JD265626 - Sequence 246650 from Patent EP1572962. JD074967 - Sequence 55991 from Patent EP1572962. JD496202 - Sequence 477226 from Patent EP1572962. AL110287 - Homo sapiens EST from clone 361263, 5' end. JD350617 - Sequence 331641 from Patent EP1572962. JD448559 - Sequence 429583 from Patent EP1572962. JD376564 - Sequence 357588 from Patent EP1572962. JD146689 - Sequence 127713 from Patent EP1572962. JD300805 - Sequence 281829 from Patent EP1572962. JD260587 - Sequence 241611 from Patent EP1572962. JD096635 - Sequence 77659 from Patent EP1572962. JD085621 - Sequence 66645 from Patent EP1572962. JD063033 - Sequence 44057 from Patent EP1572962. JD171411 - Sequence 152435 from Patent EP1572962. JD111936 - Sequence 92960 from Patent EP1572962. JD215375 - Sequence 196399 from Patent EP1572962. JD445541 - Sequence 426565 from Patent EP1572962. JD471376 - Sequence 452400 from Patent EP1572962. JD339969 - Sequence 320993 from Patent EP1572962. JD450419 - Sequence 431443 from Patent EP1572962. JD346067 - Sequence 327091 from Patent EP1572962. JD491297 - Sequence 472321 from Patent EP1572962. JD563326 - Sequence 544350 from Patent EP1572962. JD134866 - Sequence 115890 from Patent EP1572962. DQ587382 - Homo sapiens piRNA piR-54494, complete sequence. JD154379 - Sequence 135403 from Patent EP1572962. JD229538 - Sequence 210562 from Patent EP1572962. JD258734 - Sequence 239758 from Patent EP1572962. JD544248 - Sequence 525272 from Patent EP1572962. JD251370 - Sequence 232394 from Patent EP1572962. JD376671 - Sequence 357695 from Patent EP1572962. AK124722 - Homo sapiens cDNA FLJ42732 fis, clone BRAWH2013294. DQ575430 - Homo sapiens piRNA piR-43542, complete sequence. DQ594719 - Homo sapiens piRNA piR-60831, complete sequence. AK054975 - Homo sapiens cDNA FLJ30413 fis, clone BRACE2008655, weakly similar to Homo sapiens mRNA for GABAB receptor. JD515074 - Sequence 496098 from Patent EP1572962. JD473360 - Sequence 454384 from Patent EP1572962. JD450575 - Sequence 431599 from Patent EP1572962. DQ595053 - Homo sapiens piRNA piR-61165, complete sequence. JD458170 - Sequence 439194 from Patent EP1572962. JD471728 - Sequence 452752 from Patent EP1572962. JD565177 - Sequence 546201 from Patent EP1572962. JD316096 - Sequence 297120 from Patent EP1572962. DQ575246 - Homo sapiens piRNA piR-43358, complete sequence. JD545574 - Sequence 526598 from Patent EP1572962. JD243536 - Sequence 224560 from Patent EP1572962. JD515522 - Sequence 496546 from Patent EP1572962. JD078695 - Sequence 59719 from Patent EP1572962. JD446914 - Sequence 427938 from Patent EP1572962. JD299064 - Sequence 280088 from Patent EP1572962. JD565545 - Sequence 546569 from Patent EP1572962. JD276044 - Sequence 257068 from Patent EP1572962. DQ597308 - Homo sapiens piRNA piR-35374, complete sequence. JD049168 - Sequence 30192 from Patent EP1572962. JD082768 - Sequence 63792 from Patent EP1572962. JD144121 - Sequence 125145 from Patent EP1572962. JD537103 - Sequence 518127 from Patent EP1572962. JD504805 - Sequence 485829 from Patent EP1572962. JD393622 - Sequence 374646 from Patent EP1572962. JD042536 - Sequence 23560 from Patent EP1572962. JD108157 - Sequence 89181 from Patent EP1572962. JD551052 - Sequence 532076 from Patent EP1572962. JD282726 - Sequence 263750 from Patent EP1572962. DQ592467 - Homo sapiens piRNA piR-59579, complete sequence. AL109781 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 30103. DQ579610 - Homo sapiens piRNA piR-47722, complete sequence.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04512 - ECM-receptor interaction
Reactome (by CSHL, EBI, and GO)
Protein Q7L1I2 (Reactome details) participates in the following event(s):
R-HSA-5244415 BoNT/A HC:LC binds SV2A, B, or C and GT1b on the target cell surface R-HSA-5250607 BoNT/D HC:LC binds SV2A or B or C and GD2 on the target cell surface R-HSA-5250880 BoNT/F HC:LC binds SV2A or B or C and GT1b on the target cell surface R-HSA-5244503 BoNT/E HC:LC binds SV2A or B and GT1b on the target cell surface R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A) R-HSA-5250955 Toxicity of botulinum toxin type D (BoNT/D) R-HSA-5250981 Toxicity of botulinum toxin type F (BoNT/F) R-HSA-5250992 Toxicity of botulinum toxin type E (BoNT/E) R-HSA-168799 Neurotoxicity of clostridium toxins R-HSA-5339562 Uptake and actions of bacterial toxins R-HSA-5663205 Infectious disease R-HSA-1643685 Disease