SV2B (synaptic vesicle glycoprotein 2B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SV2B (synaptic vesicle glycoprotein 2B) Homo sapiens
Analyze
Symbol: SV2B
Name: synaptic vesicle glycoprotein 2B
RGD ID: 1343420
HGNC Page HGNC:16874
Description: Predicted to enable transmembrane transporter activity. Predicted to be involved in several processes, including chemical synaptic transmission; regulation of presynaptic cytosolic calcium ion concentration; and regulation of synaptic vesicle exocytosis. Predicted to be located in membrane and synaptic vesicle. Predicted to be active in glutamatergic synapse and synaptic vesicle membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ30413; FLJ42732; HsT19680; KIAA0735; SLC22B2; solute carrier family 22 member B2; synaptic vesicle protein 2B homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381591,099,588 - 91,302,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1591,099,950 - 91,302,565 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,642,818 - 91,845,795 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,570,107 - 89,639,654 (+)NCBINCBI36Build 36hg18NCBI36
Build 341589,444,548 - 89,639,514NCBI
Celera1568,053,643 - 68,255,113 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,755,090 - 67,956,780 (+)NCBIHuRef
CHM1_11591,484,697 - 91,686,166 (+)NCBICHM1_1
T2T-CHM13v2.01588,860,310 - 89,063,343 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Brain contains two forms of synaptic vesicle protein 2. Bajjalieh SM, etal., Proc Natl Acad Sci U S A 1993 Mar 15;90(6):2150-4.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy. Tejero R, etal., Hum Mol Genet. 2016 Aug 29. pii: ddw297.
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9872452   PMID:10624962   PMID:12477932   PMID:14702039   PMID:15217342   PMID:15466855   PMID:15489334   PMID:16751776   PMID:18367154   PMID:18524768  
PMID:18977120   PMID:19043545   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21873635   PMID:23617838   PMID:24939585   PMID:25416956   PMID:25796446   PMID:26760575   PMID:29507755  
PMID:32667033   PMID:33588752   PMID:33961781  


Genomics

Comparative Map Data
SV2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381591,099,588 - 91,302,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1591,099,950 - 91,302,565 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,642,818 - 91,845,795 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,570,107 - 89,639,654 (+)NCBINCBI36Build 36hg18NCBI36
Build 341589,444,548 - 89,639,514NCBI
Celera1568,053,643 - 68,255,113 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,755,090 - 67,956,780 (+)NCBIHuRef
CHM1_11591,484,697 - 91,686,166 (+)NCBICHM1_1
T2T-CHM13v2.01588,860,310 - 89,063,343 (+)NCBIT2T-CHM13v2.0
Sv2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39774,764,642 - 74,959,143 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl774,764,642 - 74,959,010 (-)EnsemblGRCm39 Ensembl
GRCm38775,114,894 - 75,309,262 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl775,114,894 - 75,309,262 (-)EnsemblGRCm38mm10GRCm38
MGSCv37782,259,780 - 82,454,148 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36774,988,407 - 75,080,208 (-)NCBIMGSCv36mm8
Celera772,579,539 - 72,767,752 (-)NCBICelera
Cytogenetic Map7D1NCBI
cM Map743.62NCBI
Sv2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81138,388,268 - 138,562,635 (-)NCBIGRCr8
mRatBN7.21128,978,471 - 129,152,479 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1128,978,473 - 129,152,479 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1136,896,702 - 137,070,712 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01144,066,885 - 144,240,909 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01136,959,578 - 137,133,094 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01136,664,199 - 136,842,247 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1136,664,204 - 136,842,247 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01137,657,432 - 137,833,134 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41130,683,155 - 130,884,752 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11130,821,099 - 130,963,095 (-)NCBI
Celera1121,088,853 - 121,261,754 (-)NCBICelera
Cytogenetic Map1q31NCBI
Sv2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541619,577,275 - 19,651,295 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541619,456,414 - 19,650,782 (+)NCBIChiLan1.0ChiLan1.0
SV2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21680,654,440 - 80,849,933 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11584,352,822 - 84,550,591 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01569,793,642 - 69,989,339 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,989,560 - 89,184,370 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1589,114,744 - 89,184,370 (+)Ensemblpanpan1.1panPan2
SV2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1348,694,905 - 48,870,157 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl348,697,293 - 48,827,194 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha351,336,197 - 51,509,930 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0349,117,185 - 49,290,983 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl349,117,943 - 49,289,778 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1348,618,333 - 48,792,169 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0348,844,324 - 49,018,092 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0349,190,330 - 49,363,923 (-)NCBIUU_Cfam_GSD_1.0
Sv2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640134,786,121 - 134,957,039 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648311,377,442 - 11,450,830 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648311,377,375 - 11,450,830 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SV2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl787,568,026 - 87,766,335 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1787,564,380 - 87,767,247 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2793,628,605 - 93,828,482 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SV2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1299,691,421 - 9,875,657 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl299,806,570 - 9,872,782 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605936,826,711 - 37,003,073 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sv2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476812,425,890 - 12,509,901 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476812,426,232 - 12,621,852 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SV2B
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
NM_014848.4(SV2B):c.206C>T (p.Ser69Phe) single nucleotide variant Malignant melanoma [RCV000070963] Chr15:91226469 [GRCh38]
Chr15:91769699 [GRCh37]
Chr15:89570703 [NCBI36]
Chr15:15q26.1
not provided
NM_014848.4(SV2B):c.172G>A (p.Asp58Asn) single nucleotide variant Malignant melanoma [RCV000062952] Chr15:91226435 [GRCh38]
Chr15:91769665 [GRCh37]
Chr15:89570669 [NCBI36]
Chr15:15q26.1
not provided
NM_001167580.1(SV2B):c.234G>A (p.Arg78=) single nucleotide variant Malignant melanoma [RCV000062953] Chr15:91252423 [GRCh38]
Chr15:91795653 [GRCh37]
Chr15:89596657 [NCBI36]
Chr15:15q26.1
not provided
NM_001323032.3(SV2B):c.1537C>T (p.Arg513Trp) single nucleotide variant Malignant tumor of prostate [RCV000149081] Chr15:91284050 [GRCh38]
Chr15:91827280 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1
pathogenic
GRCh37/hg19 15q26.1(chr15:91589712-93889459)x1 copy number loss See cases [RCV000448390] Chr15:91589712..93889459 [GRCh37]
Chr15:15q26.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_001323032.3(SV2B):c.550G>A (p.Val184Ile) single nucleotide variant Inborn genetic diseases [RCV003280208] Chr15:91251917 [GRCh38]
Chr15:91795147 [GRCh37]
Chr15:15q26.1
likely benign
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.1(chr15:91686147-91935924)x3 copy number gain not provided [RCV000751392] Chr15:91686147..91935924 [GRCh37]
Chr15:15q26.1
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001323032.3(SV2B):c.1287G>A (p.Val429=) single nucleotide variant not provided [RCV001678783] Chr15:91268519 [GRCh38]
Chr15:91811749 [GRCh37]
Chr15:15q26.1
benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1 copy number loss not provided [RCV000847986] Chr15:91229877..93677014 [GRCh37]
Chr15:15q26.1
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2
pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001323032.3(SV2B):c.1870G>A (p.Ala624Thr) single nucleotide variant Inborn genetic diseases [RCV002841335] Chr15:91292370 [GRCh38]
Chr15:91835600 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1774A>G (p.Met592Val) single nucleotide variant Inborn genetic diseases [RCV002861034] Chr15:91289586 [GRCh38]
Chr15:91832816 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1804A>T (p.Thr602Ser) single nucleotide variant Inborn genetic diseases [RCV002729795] Chr15:91289616 [GRCh38]
Chr15:91832846 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.538A>T (p.Met180Leu) single nucleotide variant Inborn genetic diseases [RCV002864573] Chr15:91251905 [GRCh38]
Chr15:91795135 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_001323032.3(SV2B):c.685C>T (p.Arg229Trp) single nucleotide variant Inborn genetic diseases [RCV002774296] Chr15:91252421 [GRCh38]
Chr15:91795651 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1742T>G (p.Phe581Cys) single nucleotide variant Inborn genetic diseases [RCV002981322] Chr15:91289554 [GRCh38]
Chr15:91832784 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1144G>A (p.Val382Met) single nucleotide variant Inborn genetic diseases [RCV002784221] Chr15:91267579 [GRCh38]
Chr15:91810809 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.635T>C (p.Ile212Thr) single nucleotide variant Inborn genetic diseases [RCV002978439] Chr15:91252371 [GRCh38]
Chr15:91795601 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.85G>C (p.Glu29Gln) single nucleotide variant Inborn genetic diseases [RCV002757493] Chr15:91226348 [GRCh38]
Chr15:91769578 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.270G>C (p.Gln90His) single nucleotide variant Inborn genetic diseases [RCV002802446] Chr15:91226533 [GRCh38]
Chr15:91769763 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.755C>T (p.Ala252Val) single nucleotide variant Inborn genetic diseases [RCV002712178] Chr15:91252491 [GRCh38]
Chr15:91795721 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.157A>G (p.Ile53Val) single nucleotide variant Inborn genetic diseases [RCV002983390] Chr15:91226420 [GRCh38]
Chr15:91769650 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1484A>C (p.Glu495Ala) single nucleotide variant Inborn genetic diseases [RCV002641690] Chr15:91281838 [GRCh38]
Chr15:91825068 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1603G>A (p.Asp535Asn) single nucleotide variant Inborn genetic diseases [RCV002919267] Chr15:91284116 [GRCh38]
Chr15:91827346 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1780G>A (p.Gly594Ser) single nucleotide variant Inborn genetic diseases [RCV002805238] Chr15:91289592 [GRCh38]
Chr15:91832822 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.133A>G (p.Ile45Val) single nucleotide variant Inborn genetic diseases [RCV002836212] Chr15:91226396 [GRCh38]
Chr15:91769626 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.347G>A (p.Gly116Asp) single nucleotide variant Inborn genetic diseases [RCV002831145] Chr15:91226610 [GRCh38]
Chr15:91769840 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.316C>T (p.Arg106Cys) single nucleotide variant Inborn genetic diseases [RCV002717999] Chr15:91226579 [GRCh38]
Chr15:91769809 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1342A>G (p.Ile448Val) single nucleotide variant Inborn genetic diseases [RCV003197463] Chr15:91268574 [GRCh38]
Chr15:91811804 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
NM_001323032.3(SV2B):c.340G>A (p.Val114Ile) single nucleotide variant Inborn genetic diseases [RCV003200004] Chr15:91226603 [GRCh38]
Chr15:91769833 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1153C>A (p.Pro385Thr) single nucleotide variant Inborn genetic diseases [RCV003214384] Chr15:91267588 [GRCh38]
Chr15:91810818 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3
pathogenic
NM_001323032.3(SV2B):c.814C>T (p.His272Tyr) single nucleotide variant Inborn genetic diseases [RCV003379023] Chr15:91258450 [GRCh38]
Chr15:91801680 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1148T>C (p.Met383Thr) single nucleotide variant Inborn genetic diseases [RCV003367572] Chr15:91267583 [GRCh38]
Chr15:91810813 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.237C>A (p.Asp79Glu) single nucleotide variant Inborn genetic diseases [RCV003373643] Chr15:91226500 [GRCh38]
Chr15:91769730 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001323032.3(SV2B):c.1141T>A (p.Cys381Ser) single nucleotide variant Inborn genetic diseases [RCV003378080] Chr15:91267576 [GRCh38]
Chr15:91810806 [GRCh37]
Chr15:15q26.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8613
Count of miRNA genes:1348
Interacting mature miRNAs:1767
Transcripts:ENST00000330276, ENST00000394232, ENST00000545111, ENST00000553727, ENST00000557291, ENST00000557410
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D15S963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,792,163 - 91,792,441UniSTSGRCh37
Build 361589,593,167 - 89,593,445RGDNCBI36
Celera1568,202,740 - 68,203,012RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,904,408 - 67,904,682UniSTS
Marshfield Genetic Map1586.81RGD
Marshfield Genetic Map1586.81UniSTS
Genethon Genetic Map1584.8UniSTS
Whitehead-YAC Contig Map15 UniSTS
D15S158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,741,664 - 91,741,752UniSTSGRCh37
Build 361589,542,668 - 89,542,756RGDNCBI36
Celera1568,152,238 - 68,152,324RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,853,906 - 67,853,992UniSTS
Marshfield Genetic Map1586.81RGD
Marshfield Genetic Map1586.81UniSTS
Genethon Genetic Map1584.8UniSTS
deCODE Assembly Map1598.27UniSTS
Whitehead-YAC Contig Map15 UniSTS
STS-AA012827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,836,450 - 91,836,699UniSTSGRCh37
Build 361589,637,454 - 89,637,703RGDNCBI36
Celera1568,247,024 - 68,247,273RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,948,691 - 67,948,940UniSTS
GeneMap99-GB4 RH Map15322.66UniSTS
NCBI RH Map15663.7UniSTS
RH15750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,844,287 - 91,844,427UniSTSGRCh37
Build 361589,645,291 - 89,645,431RGDNCBI36
Celera1568,254,861 - 68,255,001RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,956,528 - 67,956,668UniSTS
GeneMap99-GB4 RH Map15329.23UniSTS
NCBI RH Map15711.8UniSTS
D15S840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,838,377 - 91,838,603UniSTSGRCh37
Build 361589,639,381 - 89,639,607RGDNCBI36
Celera1568,248,951 - 68,249,177RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,950,618 - 67,950,844UniSTS
GeneMap99-GB4 RH Map15328.59UniSTS
Whitehead-RH Map15349.5UniSTS
Whitehead-YAC Contig Map15 UniSTS
G19697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,838,439 - 91,838,545UniSTSGRCh37
Build 361589,639,443 - 89,639,549RGDNCBI36
Celera1568,249,013 - 68,249,119RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,950,680 - 67,950,786UniSTS
A001V40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,838,439 - 91,838,545UniSTSGRCh37
Build 361589,639,443 - 89,639,549RGDNCBI36
Celera1568,249,013 - 68,249,119RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,950,680 - 67,950,786UniSTS
GeneMap99-GB4 RH Map15328.98UniSTS
SHGC-2192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,741,658 - 91,741,800UniSTSGRCh37
Build 361589,542,662 - 89,542,804RGDNCBI36
Celera1568,152,232 - 68,152,372RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,853,900 - 67,854,040UniSTS
TNG Radiation Hybrid Map1536717.0UniSTS
D15S1120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,708,583 - 91,710,000UniSTSGRCh37
Build 361589,509,587 - 89,511,004RGDNCBI36
Celera1568,119,142 - 68,120,559RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,820,812 - 67,822,229UniSTS
D15S1155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,758,141 - 91,758,222UniSTSGRCh37
Build 361589,559,145 - 89,559,226RGDNCBI36
Celera1568,168,713 - 68,168,794RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,870,381 - 67,870,462UniSTS
WI-21838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,837,378 - 91,837,672UniSTSGRCh37
Build 361589,638,382 - 89,638,676RGDNCBI36
Celera1568,247,952 - 68,248,246RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,949,619 - 67,949,913UniSTS
GeneMap99-GB4 RH Map15329.39UniSTS
Whitehead-RH Map15347.0UniSTS
NCBI RH Map15657.8UniSTS
STS-AA019712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,769,106 - 91,769,227UniSTSGRCh37
Build 361589,570,110 - 89,570,231RGDNCBI36
Celera1568,179,684 - 68,179,805RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,881,352 - 67,881,473UniSTS
GeneMap99-GB4 RH Map15329.23UniSTS
NCBI RH Map15711.8UniSTS
STS-Z41392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,837,754 - 91,837,821UniSTSGRCh37
Build 361589,638,758 - 89,638,825RGDNCBI36
Celera1568,248,328 - 68,248,395RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,949,995 - 67,950,062UniSTS
GeneMap99-GB4 RH Map15329.6UniSTS
NCBI RH Map15712.4UniSTS
SV2B_9014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,837,817 - 91,838,697UniSTSGRCh37
Build 361589,638,821 - 89,639,701RGDNCBI36
Celera1568,248,391 - 68,249,271RGD
HuRef1567,950,058 - 67,950,938UniSTS
D15S1139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,792,263 - 91,792,365UniSTSGRCh37
Build 361589,593,267 - 89,593,369RGDNCBI36
Celera1568,202,840 - 68,202,936RGD
HuRef1567,904,508 - 67,904,606UniSTS
D15S1495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,814,523 - 91,815,446UniSTSGRCh37
Build 361589,615,527 - 89,616,450RGDNCBI36
Celera1568,225,094 - 68,226,017RGD
HuRef1567,926,764 - 67,927,687UniSTS
WI-15807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,841,628 - 91,841,757UniSTSGRCh37
Build 361589,642,632 - 89,642,761RGDNCBI36
Celera1568,252,202 - 68,252,331RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,953,869 - 67,953,998UniSTS
GeneMap99-GB4 RH Map15329.33UniSTS
Whitehead-RH Map15349.9UniSTS
A004Q15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,844,341 - 91,844,461UniSTSGRCh37
Build 361589,645,345 - 89,645,465RGDNCBI36
Celera1568,254,915 - 68,255,035RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,956,582 - 67,956,702UniSTS
GeneMap99-GB4 RH Map15329.23UniSTS
NCBI RH Map15711.8UniSTS
RH15767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,837,499 - 91,837,622UniSTSGRCh37
Build 361589,638,503 - 89,638,626RGDNCBI36
Celera1568,248,073 - 68,248,196RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,949,740 - 67,949,863UniSTS
GeneMap99-GB4 RH Map15329.39UniSTS
NCBI RH Map15710.6UniSTS
STS-R44021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,837,373 - 91,837,534UniSTSGRCh37
Build 361589,638,377 - 89,638,538RGDNCBI36
Celera1568,247,947 - 68,248,108RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,949,614 - 67,949,775UniSTS
GeneMap99-GB4 RH Map15328.77UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 4 54 11 1287 3 3 29 1 51
Low 1577 710 988 144 504 43 2381 1082 2205 91 650 811 104 1 1179 1341 2
Below cutoff 775 2164 654 430 1226 372 1879 1080 205 240 680 634 64 24 1393

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG717862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ819357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ595053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ597308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ515843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY123696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000330276   ⟹   ENSP00000332818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,225,870 - 91,301,308 (+)Ensembl
RefSeq Acc Id: ENST00000394232   ⟹   ENSP00000377779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,100,257 - 91,302,565 (+)Ensembl
RefSeq Acc Id: ENST00000545111   ⟹   ENSP00000443243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,099,950 - 91,292,636 (+)Ensembl
RefSeq Acc Id: ENST00000553727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,258,477 - 91,266,948 (+)Ensembl
RefSeq Acc Id: ENST00000557291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,101,828 - 91,251,926 (+)Ensembl
RefSeq Acc Id: ENST00000557410   ⟹   ENSP00000450992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1591,100,315 - 91,295,285 (+)Ensembl
RefSeq Acc Id: NM_001167580   ⟹   NP_001161052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,257 - 91,302,565 (+)NCBI
GRCh371591,642,996 - 91,844,539 (+)NCBI
Celera1568,053,643 - 68,255,113 (+)RGD
HuRef1567,755,090 - 67,956,780 (+)RGD
CHM1_11591,484,697 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,979 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323031   ⟹   NP_001309960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,099,588 - 91,302,565 (+)NCBI
CHM1_11591,484,333 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,310 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323032   ⟹   NP_001309961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,257 - 91,302,565 (+)NCBI
CHM1_11591,484,697 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,979 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323033   ⟹   NP_001309962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,257 - 91,302,565 (+)NCBI
CHM1_11591,484,697 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,979 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323034   ⟹   NP_001309963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,257 - 91,302,565 (+)NCBI
CHM1_11591,484,697 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,979 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323036   ⟹   NP_001309965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,951 - 91,302,565 (+)NCBI
CHM1_11591,485,613 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,861,673 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323037   ⟹   NP_001309966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,951 - 91,302,565 (+)NCBI
CHM1_11591,485,613 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,861,673 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323038   ⟹   NP_001309967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,951 - 91,302,565 (+)NCBI
CHM1_11591,485,613 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,861,673 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323039   ⟹   NP_001309968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,101,796 - 91,302,565 (+)NCBI
CHM1_11591,486,562 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,862,518 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323040   ⟹   NP_001309969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,101,796 - 91,302,565 (+)NCBI
CHM1_11591,486,562 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,862,518 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014848   ⟹   NP_055663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,257 - 91,302,565 (+)NCBI
GRCh371591,642,996 - 91,844,539 (+)NCBI
Build 361589,570,107 - 89,639,654 (+)NCBI Archive
Celera1568,053,643 - 68,255,113 (+)RGD
HuRef1567,755,090 - 67,956,780 (+)RGD
CHM1_11591,484,697 - 91,686,166 (+)NCBI
T2T-CHM13v2.01588,860,979 - 89,063,343 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005254998   ⟹   XP_005255055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,225,112 - 91,302,565 (+)NCBI
GRCh371591,642,996 - 91,844,539 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022761   ⟹   XP_016878250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,205,393 - 91,302,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022762   ⟹   XP_016878251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,205,393 - 91,302,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433392   ⟹   XP_047289348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,101,796 - 91,302,565 (+)NCBI
RefSeq Acc Id: XM_054379292   ⟹   XP_054235267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,985,876 - 89,063,343 (+)NCBI
RefSeq Acc Id: XM_054379293   ⟹   XP_054235268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,966,151 - 89,063,343 (+)NCBI
RefSeq Acc Id: XM_054379294   ⟹   XP_054235269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,966,151 - 89,063,343 (+)NCBI
RefSeq Acc Id: XM_054379295   ⟹   XP_054235270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,889,024 - 89,063,343 (+)NCBI
RefSeq Acc Id: XM_054379296   ⟹   XP_054235271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,862,518 - 89,063,343 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001161052 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309961 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309962 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309969 (Get FASTA)   NCBI Sequence Viewer  
  NP_055663 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255055 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878250 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878251 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289348 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235271 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30011 (Get FASTA)   NCBI Sequence Viewer  
  ACS13737 (Get FASTA)   NCBI Sequence Viewer  
  BAA34455 (Get FASTA)   NCBI Sequence Viewer  
  BAG57991 (Get FASTA)   NCBI Sequence Viewer  
  CAG33367 (Get FASTA)   NCBI Sequence Viewer  
  CAG34346 (Get FASTA)   NCBI Sequence Viewer  
  EAX02143 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332818
  ENSP00000332818.4
  ENSP00000377779
  ENSP00000377779.1
  ENSP00000443243
  ENSP00000443243.2
  ENSP00000450992
  ENSP00000450992.1
GenBank Protein Q7L1I2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001161052   ⟸   NM_001167580
- Peptide Label: isoform 2
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055663   ⟸   NM_014848
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255055   ⟸   XM_005254998
- Peptide Label: isoform X1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309960   ⟸   NM_001323031
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309961   ⟸   NM_001323032
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309963   ⟸   NM_001323034
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001309962   ⟸   NM_001323033
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309966   ⟸   NM_001323037
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309967   ⟸   NM_001323038
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309965   ⟸   NM_001323036
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001309969   ⟸   NM_001323040
- Peptide Label: isoform 2
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309968   ⟸   NM_001323039
- Peptide Label: isoform 1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878251   ⟸   XM_017022762
- Peptide Label: isoform X1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878250   ⟸   XM_017022761
- Peptide Label: isoform X1
- UniProtKB: O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot),   Q7L1I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000450992   ⟸   ENST00000557410
RefSeq Acc Id: ENSP00000443243   ⟸   ENST00000545111
RefSeq Acc Id: ENSP00000377779   ⟸   ENST00000394232
RefSeq Acc Id: ENSP00000332818   ⟸   ENST00000330276
RefSeq Acc Id: XP_047289348   ⟸   XM_047433392
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235271   ⟸   XM_054379296
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235270   ⟸   XM_054379295
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235269   ⟸   XM_054379294
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235268   ⟸   XM_054379293
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235267   ⟸   XM_054379292
- Peptide Label: isoform X1
- UniProtKB: Q7L1I2 (UniProtKB/Swiss-Prot),   O94840 (UniProtKB/Swiss-Prot),   C6G489 (UniProtKB/Swiss-Prot),   B4DH30 (UniProtKB/Swiss-Prot),   Q6IAR8 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L1I2-F1-model_v2 AlphaFold Q7L1I2 1-683 view protein structure

Promoters
RGD ID:7230589
Promoter ID:EPDNEW_H21041
Type:initiation region
Name:SV2B_1
Description:synaptic vesicle glycoprotein 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21042  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,100,281 - 91,100,341EPDNEW
RGD ID:7230593
Promoter ID:EPDNEW_H21042
Type:single initiation site
Name:SV2B_2
Description:synaptic vesicle glycoprotein 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21041  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381591,157,868 - 91,157,928EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16874 AgrOrtholog
COSMIC SV2B COSMIC
Ensembl Genes ENSG00000185518 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330276 ENTREZGENE
  ENST00000330276.4 UniProtKB/Swiss-Prot
  ENST00000394232 ENTREZGENE
  ENST00000394232.6 UniProtKB/Swiss-Prot
  ENST00000545111 ENTREZGENE
  ENST00000545111.6 UniProtKB/Swiss-Prot
  ENST00000557410 ENTREZGENE
  ENST00000557410.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
  E3 ubiquitin-protein ligase SopA UniProtKB/Swiss-Prot
GTEx ENSG00000185518 GTEx
HGNC ID HGNC:16874 ENTREZGENE
Human Proteome Map SV2B Human Proteome Map
InterPro 5peptide_repeat UniProtKB/Swiss-Prot
  MFS UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_sugar_transport-like UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  Sugar_transporter_CS UniProtKB/Swiss-Prot
  SV2 UniProtKB/Swiss-Prot
KEGG Report hsa:9899 UniProtKB/Swiss-Prot
NCBI Gene 9899 ENTREZGENE
OMIM 185861 OMIM
PANTHER SYNAPTIC VESICLE GLYCOPROTEIN 2 UniProtKB/Swiss-Prot
  SYNAPTIC VESICLE GLYCOPROTEIN 2B UniProtKB/Swiss-Prot
Pfam MFS_1 UniProtKB/Swiss-Prot
  Pentapeptide_4 UniProtKB/Swiss-Prot
  Sugar_tr UniProtKB/Swiss-Prot
PharmGKB PA134930999 PharmGKB
PROSITE MFS UniProtKB/Swiss-Prot
Superfamily-SCOP Pentapeptide repeat-like UniProtKB/Swiss-Prot
  SSF103473 UniProtKB/Swiss-Prot
UniProt B4DH30 ENTREZGENE
  C6G489 ENTREZGENE
  O94840 ENTREZGENE
  Q6IAR8 ENTREZGENE
  Q7L1I2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DH30 UniProtKB/Swiss-Prot
  C6G489 UniProtKB/Swiss-Prot
  O94840 UniProtKB/Swiss-Prot
  Q6IAR8 UniProtKB/Swiss-Prot