SYT3 (synaptotagmin 3) - Rat Genome Database

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Gene: SYT3 (synaptotagmin 3) Homo sapiens
Analyze
Symbol: SYT3
Name: synaptotagmin 3
RGD ID: 736653
HGNC Page HGNC:11511
Description: Predicted to enable several functions, including calcium ion binding activity; phospholipid binding activity; and protein dimerization activity. Involved in positive regulation of dendrite extension. Located in endosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp761O132; synaptotagmin III; synaptotagmin-3; SytIII
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,621,977 - 50,658,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,621,307 - 50,639,881 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,125,234 - 51,161,362 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,817,046 - 55,833,114 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,817,047 - 55,833,114NCBI
Celera1948,176,610 - 48,194,391 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,460,206 - 47,478,096 (-)NCBIHuRef
CHM1_11951,127,112 - 51,144,886 (-)NCBICHM1_1
T2T-CHM13v2.01953,710,730 - 53,746,830 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7749232   PMID:7791877   PMID:8889548   PMID:10531343   PMID:10692432   PMID:10734137   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11543631   PMID:12477932   PMID:12526776  
PMID:15489334   PMID:15489336   PMID:16381901   PMID:21873635   PMID:23999003   PMID:26186194   PMID:27065097   PMID:28514442   PMID:32296183   PMID:32393512   PMID:32814053   PMID:33961781  
PMID:35676659  


Genomics

Comparative Map Data
SYT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,621,977 - 50,658,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,621,307 - 50,639,881 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,125,234 - 51,161,362 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,817,046 - 55,833,114 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,817,047 - 55,833,114NCBI
Celera1948,176,610 - 48,194,391 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,460,206 - 47,478,096 (-)NCBIHuRef
CHM1_11951,127,112 - 51,144,886 (-)NCBICHM1_1
T2T-CHM13v2.01953,710,730 - 53,746,830 (-)NCBIT2T-CHM13v2.0
Syt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,032,197 - 44,049,454 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,033,526 - 44,049,611 (+)EnsemblGRCm39 Ensembl
GRCm38744,382,773 - 44,400,030 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,384,102 - 44,400,187 (+)EnsemblGRCm38mm10GRCm38
MGSCv37751,639,496 - 51,655,400 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,252,863 - 44,268,071 (+)NCBIMGSCv36mm8
Celera739,842,838 - 39,858,700 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.83NCBI
Syt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,017,341 - 104,032,046 (+)NCBIGRCr8
mRatBN7.2194,880,835 - 94,895,518 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl194,881,247 - 94,895,246 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,266,994 - 100,280,654 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01108,739,638 - 108,753,304 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,030,066 - 102,043,728 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,379,236 - 100,407,862 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,379,186 - 100,408,083 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,459,003 - 101,473,576 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4194,866,807 - 94,880,457 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1194,944,917 - 94,958,568 (+)NCBI
Celera189,144,345 - 89,157,982 (+)NCBICelera
RH 3.4 Map1904.6RGD
Cytogenetic Map1q22NCBI
Syt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955559580,453 - 593,109 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955559580,453 - 591,938 (+)NCBIChiLan1.0ChiLan1.0
SYT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22056,688,417 - 56,706,568 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11958,601,704 - 58,627,689 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01947,585,801 - 47,604,094 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11956,486,894 - 56,522,803 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1956,486,894 - 56,503,574 (-)Ensemblpanpan1.1panPan2
SYT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,145,524 - 106,160,942 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,145,356 - 106,160,942 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,719,785 - 105,735,219 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,657,430 - 106,672,865 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,657,419 - 106,672,863 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,329,543 - 106,344,979 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,971,127 - 105,986,557 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,811,745 - 106,827,186 (+)NCBIUU_Cfam_GSD_1.0
Syt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,528,529 - 22,535,901 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936889404,534 - 411,885 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl655,417,951 - 55,434,175 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1655,417,949 - 55,449,322 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,316,981 - 51,336,155 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,678,535 - 43,698,347 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl643,677,790 - 43,697,766 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607323,694,790 - 23,713,460 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Syt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,991,491 - 4,003,608 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,991,289 - 4,003,608 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SYT3
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001160329.2(SYT3):c.1267G>A (p.Val423Met) single nucleotide variant not specified [RCV004290449] Chr19:50629308 [GRCh38]
Chr19:51132565 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_001160329.2(SYT3):c.105G>C (p.Glu35Asp) single nucleotide variant not specified [RCV004326633] Chr19:50637307 [GRCh38]
Chr19:51140564 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.32G>A (p.Arg11Gln) single nucleotide variant not specified [RCV004287760] Chr19:50637380 [GRCh38]
Chr19:51140637 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1195G>A (p.Gly399Ser) single nucleotide variant not specified [RCV004300832] Chr19:50629380 [GRCh38]
Chr19:51132637 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.664C>A (p.Pro222Thr) single nucleotide variant not specified [RCV004324719] Chr19:50632296 [GRCh38]
Chr19:51135553 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.676T>C (p.Tyr226His) single nucleotide variant not provided [RCV000889136] Chr19:50630170 [GRCh38]
Chr19:51133427 [GRCh37]
Chr19:19q13.33		 benign
NM_001160329.2(SYT3):c.1063-9C>G single nucleotide variant not provided [RCV000955569] Chr19:50629521 [GRCh38]
Chr19:51132778 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 copy number gain not provided [RCV001007055] Chr19:50469730..51916485 [GRCh37]
Chr19:19q13.33-13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.9:g.(?_50887648)_(51364623_?)dup duplication Colorectal cancer, susceptibility to, 10 [RCV001916525] Chr19:50887648..51364623 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3 copy number gain not provided [RCV002474601] Chr19:50883114..51304591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.529G>A (p.Ala177Thr) single nucleotide variant not specified [RCV004220932] Chr19:50632431 [GRCh38]
Chr19:51135688 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.220G>A (p.Val74Met) single nucleotide variant not specified [RCV004222530] Chr19:50632740 [GRCh38]
Chr19:51135997 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.689C>T (p.Pro230Leu) single nucleotide variant not specified [RCV004158581] Chr19:50630157 [GRCh38]
Chr19:51133414 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.334G>A (p.Gly112Arg) single nucleotide variant not specified [RCV004243862] Chr19:50632626 [GRCh38]
Chr19:51135883 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.289C>T (p.Arg97Cys) single nucleotide variant not specified [RCV004074303] Chr19:50632671 [GRCh38]
Chr19:51135928 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.272T>C (p.Val91Ala) single nucleotide variant not specified [RCV004117680] Chr19:50632688 [GRCh38]
Chr19:51135945 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.385G>A (p.Gly129Ser) single nucleotide variant not specified [RCV004231420] Chr19:50632575 [GRCh38]
Chr19:51135832 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.263G>T (p.Gly88Val) single nucleotide variant not specified [RCV004211313] Chr19:50632697 [GRCh38]
Chr19:51135954 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.746G>A (p.Arg249Gln) single nucleotide variant not specified [RCV004071182] Chr19:50630100 [GRCh38]
Chr19:51133357 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1663G>A (p.Ala555Thr) single nucleotide variant not specified [RCV004089345] Chr19:50625206 [GRCh38]
Chr19:51128463 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.862G>A (p.Gly288Ser) single nucleotide variant not specified [RCV004081072] Chr19:50629984 [GRCh38]
Chr19:51133241 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.730C>T (p.Pro244Ser) single nucleotide variant not specified [RCV004260445] Chr19:50630116 [GRCh38]
Chr19:51133373 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.22G>A (p.Asp8Asn) single nucleotide variant not specified [RCV004268235] Chr19:50637390 [GRCh38]
Chr19:51140647 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1555G>T (p.Ala519Ser) single nucleotide variant not specified [RCV004268466] Chr19:50625412 [GRCh38]
Chr19:51128669 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.88A>C (p.Asn30His) single nucleotide variant not specified [RCV004271612] Chr19:50637324 [GRCh38]
Chr19:51140581 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001195076.2(C19orf81):c.112C>T (p.Arg38Trp) single nucleotide variant not specified [RCV004208935] Chr19:50656094 [GRCh38]
Chr19:51159351 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001195076.2(C19orf81):c.338G>C (p.Arg113Pro) single nucleotide variant not specified [RCV004210711] Chr19:50658065 [GRCh38]
Chr19:51161322 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1768G>A (p.Glu590Lys) single nucleotide variant not specified [RCV004347508] Chr19:50622695 [GRCh38]
Chr19:51125952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1250C>T (p.Pro417Leu) single nucleotide variant not specified [RCV004357847] Chr19:50629325 [GRCh38]
Chr19:51132582 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001160329.2(SYT3):c.1353C>T (p.Thr451=) single nucleotide variant not provided [RCV003425379] Chr19:50625946 [GRCh38]
Chr19:51129203 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001160329.2(SYT3):c.263G>C (p.Gly88Ala) single nucleotide variant not specified [RCV004465913] Chr19:50632697 [GRCh38]
Chr19:51135954 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.575G>A (p.Gly192Glu) single nucleotide variant not specified [RCV004465916] Chr19:50632385 [GRCh38]
Chr19:51135642 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.574G>T (p.Gly192Trp) single nucleotide variant not specified [RCV004465915] Chr19:50632386 [GRCh38]
Chr19:51135643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.995A>G (p.Asn332Ser) single nucleotide variant not specified [RCV004465921] Chr19:50629851 [GRCh38]
Chr19:51133108 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.443C>T (p.Pro148Leu) single nucleotide variant not specified [RCV004465914] Chr19:50632517 [GRCh38]
Chr19:51135774 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.599T>A (p.Leu200Gln) single nucleotide variant not specified [RCV004465917] Chr19:50632361 [GRCh38]
Chr19:51135618 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.745C>T (p.Arg249Trp) single nucleotide variant not specified [RCV004465919] Chr19:50630101 [GRCh38]
Chr19:51133358 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.122G>A (p.Arg41Gln) single nucleotide variant not specified [RCV004465911] Chr19:50637290 [GRCh38]
Chr19:51140547 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.250C>T (p.Arg84Trp) single nucleotide variant not specified [RCV004465912] Chr19:50632710 [GRCh38]
Chr19:51135967 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.949G>A (p.Val317Met) single nucleotide variant not specified [RCV004465920] Chr19:50629897 [GRCh38]
Chr19:51133154 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.631G>C (p.Ala211Pro) single nucleotide variant not specified [RCV004681866] Chr19:50632329 [GRCh38]
Chr19:51135586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.439G>A (p.Glu147Lys) single nucleotide variant not specified [RCV004670960] Chr19:50632521 [GRCh38]
Chr19:51135778 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.649G>T (p.Val217Phe) single nucleotide variant not specified [RCV004670961] Chr19:50632311 [GRCh38]
Chr19:51135568 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.574G>C (p.Gly192Arg) single nucleotide variant not specified [RCV004670962] Chr19:50632386 [GRCh38]
Chr19:51135643 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.58C>T (p.Leu20Phe) single nucleotide variant not specified [RCV004681865] Chr19:50637354 [GRCh38]
Chr19:51140611 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001160329.2(SYT3):c.1636G>A (p.Gly546Ser) single nucleotide variant not specified [RCV004670959] Chr19:50625233 [GRCh38]
Chr19:51128490 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2454
Count of miRNA genes:694
Interacting mature miRNAs:801
Transcripts:ENST00000338916, ENST00000544769, ENST00000593901, ENST00000595117, ENST00000595557, ENST00000598997, ENST00000600079
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406886401GWAS535377_Hwaist circumference QTL GWAS535377 (human)0.0000004waist circumferencewaist circumference (CMO:0000242)195063715550637156Human
406986083GWAS635059_Hchronic kidney disease, diabetic nephropathy QTL GWAS635059 (human)0.000002chronic kidney disease, diabetic nephropathy195065783150657832Human
406996616GWAS645592_Hbody height QTL GWAS645592 (human)4e-09body height (VT:0001253)body mass index (BMI) (CMO:0000105)195062948950629490Human
406986152GWAS635128_Hchronic kidney disease, diabetic nephropathy QTL GWAS635128 (human)0.000009chronic kidney disease, diabetic nephropathy195065783150657832Human
406981327GWAS630303_Hsuperior frontal gyrus volume measurement QTL GWAS630303 (human)0.000002frontal lobe morphology trait (VT:0000798)195063358750633588Human
406970159GWAS619135_Htrait in response to nitrofurantoin, drug-induced liver injury QTL GWAS619135 (human)0.0000002trait in response to nitrofurantoin, drug-induced liver injury195065783150657832Human
406931825GWAS580801_Hbody mass index QTL GWAS580801 (human)9e-10body mass indexbody mass index (BMI) (CMO:0000105)195062948950629490Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
406930448GWAS579424_Hsmoking initiation QTL GWAS579424 (human)6e-25smoking initiation195062765250627653Human
407121782GWAS770758_Hsmoking status measurement QTL GWAS770758 (human)3e-09smoking status measurement195062648850626489Human
407119187GWAS768163_Hsmoking status measurement QTL GWAS768163 (human)9e-10smoking status measurement195062648850626489Human
407093428GWAS742404_Hbody mass index QTL GWAS742404 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)195062948950629490Human
407062008GWAS710984_Hbody mass index QTL GWAS710984 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)195062948950629490Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406906813GWAS555789_Hsmoking initiation QTL GWAS555789 (human)4e-24smoking initiation195062948950629490Human
407096414GWAS745390_Hbody mass index QTL GWAS745390 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)195062948950629490Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
945 2300 2411 1986 4839 1562 2088 2 476 1165 316 1998 5818 5142 38 3638 771 1632 1503 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001160328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI912995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM688060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM710834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338916   ⟹   ENSP00000340914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,621,977 - 50,638,045 (-)Ensembl
Ensembl Acc Id: ENST00000593901   ⟹   ENSP00000468982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,621,977 - 50,639,827 (-)Ensembl
Ensembl Acc Id: ENST00000595117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,622,420 - 50,626,134 (-)Ensembl
Ensembl Acc Id: ENST00000595557   ⟹   ENSP00000469834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,621,307 - 50,625,290 (-)Ensembl
Ensembl Acc Id: ENST00000598997   ⟹   ENSP00000469637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,632,671 - 50,639,306 (-)Ensembl
Ensembl Acc Id: ENST00000600079   ⟹   ENSP00000469398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,621,977 - 50,639,881 (-)Ensembl
RefSeq Acc Id: NM_001160328   ⟹   NP_001153800
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,639,881 (-)NCBI
GRCh371951,125,234 - 51,143,092 (-)RGD
Celera1948,176,610 - 48,194,391 (-)RGD
HuRef1947,460,206 - 47,478,096 (-)ENTREZGENE
CHM1_11951,127,112 - 51,144,886 (-)NCBI
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001160329   ⟹   NP_001153801
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,639,881 (-)NCBI
GRCh371951,125,234 - 51,143,092 (-)RGD
Celera1948,176,610 - 48,194,391 (-)RGD
HuRef1947,460,206 - 47,478,096 (-)ENTREZGENE
CHM1_11951,127,112 - 51,144,886 (-)NCBI
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001424344   ⟹   NP_001411273
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,639,881 (-)NCBI
RefSeq Acc Id: NM_001424345   ⟹   NP_001411274
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,639,881 (-)NCBI
RefSeq Acc Id: NM_001424346   ⟹   NP_001411275
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,658,105 (-)NCBI
T2T-CHM13v2.01953,710,730 - 53,746,830 (-)NCBI
RefSeq Acc Id: NM_001424347   ⟹   NP_001411276
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
RefSeq Acc Id: NM_001424348   ⟹   NP_001411277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
RefSeq Acc Id: NM_001424349   ⟹   NP_001411278
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
RefSeq Acc Id: NM_001424350   ⟹   NP_001411279
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,710,730 - 53,728,582 (-)NCBI
RefSeq Acc Id: NM_032298   ⟹   NP_115674
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,621,977 - 50,637,945 (-)NCBI
GRCh371951,125,234 - 51,143,092 (-)RGD
Build 361955,817,046 - 55,833,114 (-)NCBI Archive
Celera1948,176,610 - 48,194,391 (-)RGD
HuRef1947,460,206 - 47,478,096 (-)ENTREZGENE
CHM1_11951,127,112 - 51,143,102 (-)NCBI
T2T-CHM13v2.01953,710,730 - 53,726,656 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001153800   ⟸   NM_001160328
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153801   ⟸   NM_001160329
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115674   ⟸   NM_032298
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000469834   ⟸   ENST00000595557
Ensembl Acc Id: ENSP00000469637   ⟸   ENST00000598997
Ensembl Acc Id: ENSP00000340914   ⟸   ENST00000338916
Ensembl Acc Id: ENSP00000469398   ⟸   ENST00000600079
Ensembl Acc Id: ENSP00000468982   ⟸   ENST00000593901
RefSeq Acc Id: NP_001411275   ⟸   NM_001424346
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411273   ⟸   NM_001424344
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411274   ⟸   NM_001424345
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411276   ⟸   NM_001424347
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411277   ⟸   NM_001424348
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411278   ⟸   NM_001424349
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001411279   ⟸   NM_001424350
- UniProtKB: Q9BQG1 (UniProtKB/Swiss-Prot),   Q8N640 (UniProtKB/Swiss-Prot),   Q8N5Z1 (UniProtKB/Swiss-Prot)
Protein Domains
C2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQG1-F1-model_v2 AlphaFold Q9BQG1 1-590 view protein structure

Promoters
RGD ID:13205281
Promoter ID:EPDNEW_H26221
Type:initiation region
Name:SYT3_3
Description:synaptotagmin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26222  EPDNEW_H26223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,637,945 - 50,638,005EPDNEW
RGD ID:13205283
Promoter ID:EPDNEW_H26222
Type:initiation region
Name:SYT3_1
Description:synaptotagmin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26221  EPDNEW_H26223  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,639,845 - 50,639,905EPDNEW
RGD ID:13205285
Promoter ID:EPDNEW_H26223
Type:initiation region
Name:SYT3_2
Description:synaptotagmin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26221  EPDNEW_H26222  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,658,103 - 50,658,163EPDNEW
RGD ID:6796088
Promoter ID:HG_KWN:30625
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:UC002PSU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,834,509 - 55,835,009 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11511 AgrOrtholog
COSMIC SYT3 COSMIC
Ensembl Genes ENSG00000213023 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338916 ENTREZGENE
  ENST00000338916.8 UniProtKB/Swiss-Prot
  ENST00000593901 ENTREZGENE
  ENST00000593901.5 UniProtKB/Swiss-Prot
  ENST00000595557.1 UniProtKB/TrEMBL
  ENST00000598997.1 UniProtKB/TrEMBL
  ENST00000600079 ENTREZGENE
  ENST00000600079.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213023 GTEx
HGNC ID HGNC:11511 ENTREZGENE
Human Proteome Map SYT3 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot
KEGG Report hsa:84258 UniProtKB/Swiss-Prot
NCBI Gene SYT3 ENTREZGENE
OMIM 600327 OMIM
PANTHER PTHR10024:SF176 UniProtKB/Swiss-Prot
  SYNAPTOTAGMIN UniProtKB/Swiss-Prot
Pfam PF00168 UniProtKB/Swiss-Prot
PharmGKB PA36292 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot
  SYNAPTOTAGMN UniProtKB/Swiss-Prot
PROSITE PS50004 UniProtKB/Swiss-Prot
SMART SM00239 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot
UniProt M0QY70_HUMAN UniProtKB/TrEMBL
  M0QYH4_HUMAN UniProtKB/TrEMBL
  Q8N5Z1 ENTREZGENE
  Q8N640 ENTREZGENE
  Q9BQG1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q8N5Z1 UniProtKB/Swiss-Prot
  Q8N640 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 SYT3  synaptotagmin 3    synaptotagmin III  Symbol and/or name change 5135510 APPROVED