SYT2 (synaptotagmin 2) - Rat Genome Database

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Gene: SYT2 (synaptotagmin 2) Homo sapiens
Analyze
Symbol: SYT2
Name: synaptotagmin 2
RGD ID: 735278
HGNC Page HGNC:11510
Description: Predicted to enable several functions, including inositol 1,3,4,5 tetrakisphosphate binding activity; phospholipid binding activity; and syntaxin binding activity. Involved in positive regulation of dendrite extension. Predicted to be located in clathrin-coated endocytic vesicle membrane. Predicted to be active in several cellular components, including axon; neuromuscular junction; and secretory vesicle. Implicated in congenital myasthenic syndrome and congenital myasthenic syndrome 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMS7; CMS7A; CMS7B; FLJ42519; MYSPC; synaptotagmin II; synaptotagmin-2; SytII
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
GRCh381202,590,596 - 202,710,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1202,590,596 - 202,710,454 (-)EnsemblGRCh38hg38GRCh38
GRCh371202,559,724 - 202,679,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361200,831,511 - 200,946,168 (-)NCBINCBI36Build 36hg18NCBI36
Build 341199,296,544 - 199,411,202NCBI
Celera1175,686,865 - 175,807,438 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1173,725,569 - 173,845,371 (-)NCBIHuRef
CHM1_11203,981,971 - 204,101,776 (-)NCBICHM1_1
T2T-CHM13v2.01201,852,402 - 201,972,645 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ankle flexion contracture  (IAGP)
Apneic episodes precipitated by illness, fatigue, stress  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bulbar palsy  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Choking episodes  (IAGP)
Compound muscle action potential amplitude facilitation  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Cyanosis  (IAGP)
Decreased compound muscle action potential amplitude  (IAGP)
Decreased fetal movement  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Easy fatigability  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Elbow flexion contracture  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
EMG: impaired neuromuscular transmission  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Episodic respiratory distress  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness  (IAGP)
Fetal onset  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frontalis muscle weakness  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized muscle weakness  (IAGP)
Hammertoe  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Intermittent episodes of respiratory insufficiency due to muscle weakness  (IAGP)
Joint laxity  (IAGP)
Knee flexion contracture  (IAGP)
Kyphoscoliosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Limited extraocular movements  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Microretrognathia  (IAGP)
Mitral stenosis  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle fiber atrophy  (IAGP)
Narrow jaw  (IAGP)
Nasal regurgitation  (IAGP)
Nasal speech  (IAGP)
Neck muscle weakness  (IAGP)
Neuropathic spinal arthropathy  (IAGP)
Nystagmus  (IAGP)
Obstructive sleep apnea  (IAGP)
Ophthalmoplegia  (IAGP)
Parathyroid carcinoma  (IAGP)
Pectus carinatum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced forced vital capacity  (IAGP)
Respiratory arrest  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Slow saccadic eye movements  (IAGP)
Spinal rigidity  (IAGP)
Staring gaze  (IAGP)
Stridor  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Sudden episodic apnea  (IAGP)
Thin corpus callosum  (IAGP)
Tip-toe gait  (IAGP)
Tongue fasciculations  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
Weak voice  (IAGP)
Weakness of facial musculature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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:1856191   PMID:2446925   PMID:7749232   PMID:7961887   PMID:8058779   PMID:8901523   PMID:10330444   PMID:10734137   PMID:10952998   PMID:11381094   PMID:11696368   PMID:12063179  
PMID:12477932   PMID:14702039   PMID:14709554   PMID:15350218   PMID:15489334   PMID:16344560   PMID:17500595   PMID:18029348   PMID:18639519   PMID:19234085   PMID:19234194   PMID:19709630  
PMID:20301347   PMID:21873635   PMID:22265973   PMID:22454523   PMID:22939005   PMID:23936387   PMID:23999003   PMID:25192047   PMID:26186194   PMID:26519543   PMID:27065097   PMID:28514442  
PMID:28611215   PMID:31343991   PMID:32250532   PMID:32296183   PMID:32776697   PMID:32814053   PMID:33105646   PMID:33961781  


Genomics

Comparative Map Data
SYT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381202,590,596 - 202,710,454 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1202,590,596 - 202,710,454 (-)EnsemblGRCh38hg38GRCh38
GRCh371202,559,724 - 202,679,582 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361200,831,511 - 200,946,168 (-)NCBINCBI36Build 36hg18NCBI36
Build 341199,296,544 - 199,411,202NCBI
Celera1175,686,865 - 175,807,438 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1173,725,569 - 173,845,371 (-)NCBIHuRef
CHM1_11203,981,971 - 204,101,776 (-)NCBICHM1_1
T2T-CHM13v2.01201,852,402 - 201,972,645 (-)NCBIT2T-CHM13v2.0
Syt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391134,574,272 - 134,680,887 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1134,574,415 - 134,690,331 (+)EnsemblGRCm39 Ensembl
GRCm381134,646,534 - 134,753,149 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1134,646,677 - 134,762,593 (+)EnsemblGRCm38mm10GRCm38
MGSCv371136,543,258 - 136,645,994 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361136,463,092 - 136,565,828 (+)NCBIMGSCv36mm8
Celera1137,257,554 - 137,373,520 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map158.24NCBI
Syt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21346,088,046 - 46,197,976 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1346,185,282 - 46,193,859 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1348,791,632 - 48,800,091 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01350,079,700 - 50,088,159 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01347,345,602 - 47,354,226 (+)NCBIRnor_WKY
Rnor_6.01351,569,248 - 51,577,824 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1351,534,025 - 51,578,052 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01356,621,954 - 56,630,530 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41347,690,518 - 47,699,094 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11347,704,560 - 47,713,137 (+)NCBI
Celera1346,512,022 - 46,520,623 (+)NCBICelera
Cytogenetic Map13q13NCBI
Syt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540638,643,911 - 38,743,222 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540638,638,192 - 38,743,077 (-)NCBIChiLan1.0ChiLan1.0
SYT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11182,484,225 - 182,605,743 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1182,490,401 - 182,538,123 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01178,187,872 - 178,308,522 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SYT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.17497,387 - 509,338 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl7497,394 - 502,952 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha7478,659 - 557,321 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.07433,590 - 512,581 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl7433,409 - 512,622 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.17422,285 - 501,206 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.07531,125 - 609,898 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.07554,413 - 633,358 (+)NCBIUU_Cfam_GSD_1.0
Syt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934472,642,164 - 72,749,746 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365671,941,639 - 1,984,428 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365671,941,651 - 1,984,422 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1024,638,704 - 24,669,846 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11024,638,645 - 24,727,198 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21029,086,244 - 29,094,379 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SYT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12526,702,627 - 26,821,108 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2526,808,007 - 26,817,314 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605527,480,660 - 27,602,721 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Syt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248078,160,431 - 8,196,916 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248078,103,665 - 8,201,567 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SYT2
133 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6506
Count of miRNA genes:1168
Interacting mature miRNAs:1469
Transcripts:ENST00000367267, ENST00000367268
Prediction methods:Miranda
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
D1S2686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,636,542 - 202,636,774UniSTSGRCh37
Build 361200,903,165 - 200,903,397RGDNCBI36
Celera1175,763,667 - 175,763,887RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,801,013 - 173,801,247UniSTS
Marshfield Genetic Map1216.46RGD
Marshfield Genetic Map1216.46UniSTS
Genethon Genetic Map1221.2UniSTS
deCODE Assembly Map1201.48UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S1724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,587,468 - 202,587,577UniSTSGRCh37
Build 361200,854,091 - 200,854,200RGDNCBI36
Celera1175,714,585 - 175,714,704RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,753,327 - 173,753,432UniSTS
Marshfield Genetic Map1216.82UniSTS
Marshfield Genetic Map1216.82RGD
Genethon Genetic Map1221.0UniSTS
deCODE Assembly Map1201.4UniSTS
D1S2655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,565,270 - 202,565,517UniSTSGRCh37
Build 361200,831,893 - 200,832,140RGDNCBI36
Celera1175,692,411 - 175,692,638RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,731,126 - 173,731,381UniSTS
Marshfield Genetic Map1216.82RGD
Marshfield Genetic Map1216.82UniSTS
Genethon Genetic Map1221.1UniSTS
deCODE Assembly Map1201.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,565,304 - 202,565,606UniSTSGRCh37
Build 361200,831,927 - 200,832,229RGDNCBI36
Celera1175,692,445 - 175,692,727RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,731,160 - 173,731,470UniSTS
Whitehead-YAC Contig Map1 UniSTS
A002T08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,559,787 - 202,560,012UniSTSGRCh37
Build 361200,826,410 - 200,826,635RGDNCBI36
Celera1175,686,928 - 175,687,153RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,725,632 - 173,725,857UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
SYT2__5372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,564,714 - 202,565,245UniSTSGRCh37
Build 361200,831,337 - 200,831,868RGDNCBI36
Celera1175,691,855 - 175,692,386RGD
HuRef1173,730,570 - 173,731,101UniSTS
D1S1804E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,559,808 - 202,560,004UniSTSGRCh37
Build 361200,826,431 - 200,826,627RGDNCBI36
Celera1175,686,949 - 175,687,145RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,725,653 - 173,725,849UniSTS
TNG Radiation Hybrid Map199697.0UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
A008L47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,561,315 - 202,561,573UniSTSGRCh37
Build 361200,827,938 - 200,828,196RGDNCBI36
Celera1175,688,456 - 175,688,714RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,727,160 - 173,727,418UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
NIB1035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,559,790 - 202,560,076UniSTSGRCh37
Build 361200,826,413 - 200,826,699RGDNCBI36
Celera1175,686,931 - 175,687,217RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,725,635 - 173,725,921UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
Whitehead-RH Map1826.7UniSTS
D1S3420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,559,735 - 202,560,013UniSTSGRCh37
Build 361200,826,358 - 200,826,636RGDNCBI36
Celera1175,686,876 - 175,687,154RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,725,580 - 173,725,858UniSTS
GeneMap99-GB4 RH Map1672.28UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL009837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371202,630,158 - 202,630,285UniSTSGRCh37
Build 361200,896,781 - 200,896,908RGDNCBI36
Celera1175,757,282 - 175,757,409RGD
Cytogenetic Map1q32.1UniSTS
HuRef1173,794,628 - 173,794,755UniSTS


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 2 3 2 2 2 27 5 640 9 18 1
Low 1580 1689 304 104 333 21 1796 1112 1934 70 1109 480 87 1 357 1374
Below cutoff 784 1258 1331 445 1228 367 2488 1062 1136 286 294 1057 85 847 1411 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA098279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367267   ⟹   ENSP00000356236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1202,590,596 - 202,643,453 (-)Ensembl
RefSeq Acc Id: ENST00000367268   ⟹   ENSP00000356237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1202,590,596 - 202,710,454 (-)Ensembl
RefSeq Acc Id: NM_001136504   ⟹   NP_001129976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,643,453 (-)NCBI
GRCh371202,559,724 - 202,679,551 (-)ENTREZGENE
HuRef1173,725,569 - 173,845,371 (-)ENTREZGENE
CHM1_11203,981,971 - 204,034,801 (-)NCBI
T2T-CHM13v2.01201,852,402 - 201,905,233 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177402   ⟹   NP_796376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,710,454 (-)NCBI
GRCh371202,559,724 - 202,679,551 (-)ENTREZGENE
Build 361200,831,511 - 200,946,168 (-)NCBI Archive
HuRef1173,725,569 - 173,845,371 (-)ENTREZGENE
CHM1_11203,981,971 - 204,101,776 (-)NCBI
T2T-CHM13v2.01201,852,402 - 201,972,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509192   ⟹   XP_011507494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,710,454 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000309   ⟹   XP_016855798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,608,940 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000310   ⟹   XP_016855799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,608,940 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000311   ⟹   XP_016855800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,643,453 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000312   ⟹   XP_016855801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,645,237 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000313   ⟹   XP_016855802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,590,596 - 202,645,235 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_796376   ⟸   NM_177402
- UniProtKB: Q8NBE5 (UniProtKB/Swiss-Prot),   Q8N9I0 (UniProtKB/Swiss-Prot),   A0A024R9B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129976   ⟸   NM_001136504
- UniProtKB: Q8NBE5 (UniProtKB/Swiss-Prot),   Q8N9I0 (UniProtKB/Swiss-Prot),   A0A024R9B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507494   ⟸   XM_011509192
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855801   ⟸   XM_017000312
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855802   ⟸   XM_017000313
- Peptide Label: isoform X4
- UniProtKB: Q8NBE5 (UniProtKB/Swiss-Prot),   Q8N9I0 (UniProtKB/Swiss-Prot),   A0A024R9B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855800   ⟸   XM_017000311
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855799   ⟸   XM_017000310
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016855798   ⟸   XM_017000309
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000356236   ⟸   ENST00000367267
RefSeq Acc Id: ENSP00000356237   ⟸   ENST00000367268
Protein Domains
C2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N9I0-F1-model_v2 AlphaFold Q8N9I0 1-419 view protein structure

Promoters
RGD ID:6858594
Promoter ID:EPDNEW_H2462
Type:multiple initiation site
Name:SYT2_2
Description:synaptotagmin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2463  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,644,108 - 202,644,168EPDNEW
RGD ID:6858596
Promoter ID:EPDNEW_H2463
Type:initiation region
Name:SYT2_1
Description:synaptotagmin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2462  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381202,710,454 - 202,710,514EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
NM_001136504.1(SYT2):c.582A>G (p.Lys194=) single nucleotide variant Malignant melanoma [RCV000060050] Chr1:202602429 [GRCh38]
Chr1:202571557 [GRCh37]
Chr1:200838180 [NCBI36]
Chr1:1q32.1
not provided
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala) single nucleotide variant Congenital myasthenic syndrome 7 [RCV000144451] Chr1:202599351 [GRCh38]
Chr1:202568479 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) single nucleotide variant Congenital myasthenic syndrome 7 [RCV000144452]|Inborn genetic diseases [RCV001266070]|not provided [RCV001857492] Chr1:202599348 [GRCh38]
Chr1:202568476 [GRCh37]
Chr1:1q32.1
pathogenic|uncertain significance
NM_177402.5(SYT2):c.199G>A (p.Ala67Thr) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001331881]|not provided [RCV001865745] Chr1:202604601 [GRCh38]
Chr1:202573729 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_177402.5(SYT2):c.802-3C>G single nucleotide variant not provided [RCV000578687] Chr1:202600477 [GRCh38]
Chr1:202569605 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.735G>A (p.Met245Ile) single nucleotide variant not provided [RCV000490020] Chr1:202601956 [GRCh38]
Chr1:202571084 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del) deletion Respiratory distress [RCV000415021] Chr1:202596928..202596933 [GRCh38]
Chr1:202566056..202566061 [GRCh37]
Chr1:1q32.1
likely pathogenic
NM_177402.5(SYT2):c.465+20_465+21del deletion Congenital myasthenic syndrome 7 [RCV001815342]|Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001815399]|not provided [RCV000513701] Chr1:202602978..202602979 [GRCh38]
Chr1:202572108..202572109 [GRCh37]
Chr1:1q32.1
benign|likely benign
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_177402.5(SYT2):c.903C>T (p.Asp301=) single nucleotide variant not provided [RCV000512774] Chr1:202600373 [GRCh38]
Chr1:202569501 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q32.1(chr1:202407113-202727279)x1 copy number loss not provided [RCV000684687] Chr1:202407113..202727279 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.804G>A (p.Pro268=) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001815587]|Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001815588]|not provided [RCV001565999] Chr1:202600472 [GRCh38]
Chr1:202569600 [GRCh37]
Chr1:1q32.1
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q32.1(chr1:202595153-202721148)x3 copy number gain not provided [RCV000736831] Chr1:202595153..202721148 [GRCh37]
Chr1:1q32.1
benign
GRCh37/hg19 1q32.1(chr1:202604386-202912995)x3 copy number gain not provided [RCV000736832] Chr1:202604386..202912995 [GRCh37]
Chr1:1q32.1
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q32.1(chr1:202542202-203108963)x3 copy number gain not provided [RCV000749330] Chr1:202542202..203108963 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.*121CTTGTTTTTC[1] microsatellite not provided [RCV001585213] Chr1:202596617..202596626 [GRCh38]
Chr1:202565745..202565754 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.801+8C>T single nucleotide variant not provided [RCV000891858] Chr1:202601882 [GRCh38]
Chr1:202571010 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.179-274C>G single nucleotide variant not provided [RCV001566808] Chr1:202604895 [GRCh38]
Chr1:202574023 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.71T>C (p.Ile24Thr) single nucleotide variant not provided [RCV000761691] Chr1:202605702 [GRCh38]
Chr1:202574830 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity
NM_177402.5(SYT2):c.958A>C (p.Arg320=) single nucleotide variant not provided [RCV000884971] Chr1:202599313 [GRCh38]
Chr1:202568441 [GRCh37]
Chr1:1q32.1
benign|likely benign
NM_177402.5(SYT2):c.351C>T (p.Asp117=) single nucleotide variant not provided [RCV000949473] Chr1:202603113 [GRCh38]
Chr1:202572241 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1143G>A (p.Thr381=) single nucleotide variant not provided [RCV000906506] Chr1:202596874 [GRCh38]
Chr1:202566002 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.357C>T (p.Asp119=) single nucleotide variant not provided [RCV000906528] Chr1:202603107 [GRCh38]
Chr1:202572235 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.75A>G (p.Gly25=) single nucleotide variant not provided [RCV000932021] Chr1:202605698 [GRCh38]
Chr1:202574826 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1194C>T (p.Pro398=) single nucleotide variant not provided [RCV000922335] Chr1:202596823 [GRCh38]
Chr1:202565951 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.634-5T>C single nucleotide variant not provided [RCV000939254] Chr1:202602062 [GRCh38]
Chr1:202571190 [GRCh37]
Chr1:1q32.1
likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q32.1(chr1:202575619-202880256)x3 copy number gain not provided [RCV000848091] Chr1:202575619..202880256 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1081G>C (p.Asp361His) single nucleotide variant Flexion contracture [RCV001007794] Chr1:202596936 [GRCh38]
Chr1:202566064 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001553805] Chr1:202596923 [GRCh38]
Chr1:202566051 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001553803] Chr1:202596905 [GRCh38]
Chr1:202566033 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.1191del (p.Arg397fs) deletion Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001553807] Chr1:202596826 [GRCh38]
Chr1:202565954 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del) deletion Congenital myasthenic syndrome 7 [RCV001553804] Chr1:202596921..202596935 [GRCh38]
Chr1:202566049..202566063 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.725dup (p.Val243fs) duplication Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001553809] Chr1:202601965..202601966 [GRCh38]
Chr1:202571093..202571094 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.1054-109A>G single nucleotide variant not provided [RCV001639788] Chr1:202597072 [GRCh38]
Chr1:202566200 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1054-26A>T single nucleotide variant not provided [RCV001691489] Chr1:202596989 [GRCh38]
Chr1:202566117 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.849G>A (p.Thr283=) single nucleotide variant not provided [RCV001674518] Chr1:202600427 [GRCh38]
Chr1:202569555 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.802-229C>T single nucleotide variant not provided [RCV001665353] Chr1:202600703 [GRCh38]
Chr1:202569831 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.801+242C>T single nucleotide variant not provided [RCV001620551] Chr1:202601648 [GRCh38]
Chr1:202570776 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1054-273A>C single nucleotide variant not provided [RCV001685310] Chr1:202597236 [GRCh38]
Chr1:202566364 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.345+289G>C single nucleotide variant not provided [RCV001672301] Chr1:202604166 [GRCh38]
Chr1:202573294 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.744G>A (p.Val248=) single nucleotide variant not provided [RCV000974038] Chr1:202601947 [GRCh38]
Chr1:202571075 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1104C>T (p.Asn368=) single nucleotide variant not provided [RCV000923649] Chr1:202596913 [GRCh38]
Chr1:202566041 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.519C>T (p.Gly173=) single nucleotide variant not provided [RCV000909687]|not specified [RCV001701249] Chr1:202602492 [GRCh38]
Chr1:202571620 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.322A>G (p.Met108Val) single nucleotide variant Peripheral axonal neuropathy [RCV001007476] Chr1:202604478 [GRCh38]
Chr1:202573606 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1053+189G>C single nucleotide variant not provided [RCV001550258] Chr1:202599029 [GRCh38]
Chr1:202568157 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.117C>T (p.Ser39=) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001815621]|Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001816024]|not provided [RCV001722824] Chr1:202605656 [GRCh38]
Chr1:202574784 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.801+100C>T single nucleotide variant not provided [RCV001657346] Chr1:202601790 [GRCh38]
Chr1:202570918 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter) single nucleotide variant Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001553806] Chr1:202600471 [GRCh38]
Chr1:202569599 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.920-256A>G single nucleotide variant not provided [RCV001619082] Chr1:202599607 [GRCh38]
Chr1:202568735 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.*134_*137del deletion not provided [RCV001719248] Chr1:202596620..202596623 [GRCh38]
Chr1:202565748..202565751 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.345+177G>A single nucleotide variant not provided [RCV001719245] Chr1:202604278 [GRCh38]
Chr1:202573406 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.920-27T>C single nucleotide variant not provided [RCV001676560] Chr1:202599378 [GRCh38]
Chr1:202568506 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.802-275C>T single nucleotide variant not provided [RCV001620924] Chr1:202600749 [GRCh38]
Chr1:202569877 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.801+238G>A single nucleotide variant not provided [RCV001587968] Chr1:202601652 [GRCh38]
Chr1:202570780 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.-17-206T>G single nucleotide variant not provided [RCV001585620] Chr1:202605995 [GRCh38]
Chr1:202575123 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1054-177dup duplication not provided [RCV001649555] Chr1:202597137..202597138 [GRCh38]
Chr1:202566265..202566266 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.358G>A (p.Ala120Thr) single nucleotide variant Congenital myasthenic syndrome 7 [RCV001198300]|not provided [RCV001863123] Chr1:202603106 [GRCh38]
Chr1:202572234 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.465+1G>A single nucleotide variant Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive [RCV001553808] Chr1:202602998 [GRCh38]
Chr1:202572126 [GRCh37]
Chr1:1q32.1
pathogenic
NM_177402.5(SYT2):c.87del (p.Ser30fs) deletion Congenital myasthenic syndrome 7 [RCV001252994] Chr1:202605686 [GRCh38]
Chr1:202574814 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.308A>G (p.Lys103Arg) single nucleotide variant not provided [RCV002284896] Chr1:202604492 [GRCh38]
Chr1:202573620 [GRCh37]
Chr1:1q32.1
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_177402.5(SYT2):c.554C>T (p.Pro185Leu) single nucleotide variant not provided [RCV001963863] Chr1:202602457 [GRCh38]
Chr1:202571585 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.178+300T>C single nucleotide variant not provided [RCV001610813] Chr1:202605295 [GRCh38]
Chr1:202574423 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.920-5C>T single nucleotide variant not provided [RCV001717402] Chr1:202599356 [GRCh38]
Chr1:202568484 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.919+331C>T single nucleotide variant not provided [RCV001680081] Chr1:202600026 [GRCh38]
Chr1:202569154 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1197C>T (p.Ile399=) single nucleotide variant not provided [RCV001613943] Chr1:202596820 [GRCh38]
Chr1:202565948 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.345+176dup duplication not provided [RCV001583416] Chr1:202604271..202604272 [GRCh38]
Chr1:202573399..202573400 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.761T>C (p.Ile254Thr) single nucleotide variant not provided [RCV001726777] Chr1:202601930 [GRCh38]
Chr1:202571058 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1103A>C (p.Asn368Thr) single nucleotide variant not specified [RCV002238683] Chr1:202596914 [GRCh38]
Chr1:202566042 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.46G>T (p.Ala16Ser) single nucleotide variant not provided [RCV001764747] Chr1:202605727 [GRCh38]
Chr1:202574855 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.*17C>T single nucleotide variant not provided [RCV001787545] Chr1:202596740 [GRCh38]
Chr1:202565868 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.1053+1G>T single nucleotide variant not provided [RCV001763447] Chr1:202599217 [GRCh38]
Chr1:202568345 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.919+5G>A single nucleotide variant not provided [RCV001816071] Chr1:202600352 [GRCh38]
Chr1:202569480 [GRCh37]
Chr1:1q32.1
likely benign|conflicting interpretations of pathogenicity
NM_177402.5(SYT2):c.179-2A>G single nucleotide variant not provided [RCV001752464] Chr1:202604623 [GRCh38]
Chr1:202573751 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.179-4G>T single nucleotide variant not provided [RCV001970923] Chr1:202604625 [GRCh38]
Chr1:202573753 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.981C>G (p.Thr327=) single nucleotide variant not provided [RCV001874400] Chr1:202599290 [GRCh38]
Chr1:202568418 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1142C>T (p.Thr381Met) single nucleotide variant not provided [RCV001949798] Chr1:202596875 [GRCh38]
Chr1:202566003 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.982G>A (p.Val328Met) single nucleotide variant not provided [RCV002041632] Chr1:202599289 [GRCh38]
Chr1:202568417 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV002041529] Chr1:202605771 [GRCh38]
Chr1:202574899 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.346-6C>T single nucleotide variant not provided [RCV001967320] Chr1:202603124 [GRCh38]
Chr1:202572252 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.848C>T (p.Thr283Met) single nucleotide variant not provided [RCV001910819] Chr1:202600428 [GRCh38]
Chr1:202569556 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.137A>G (p.Lys46Arg) single nucleotide variant not provided [RCV001892330] Chr1:202605636 [GRCh38]
Chr1:202574764 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.476G>A (p.Gly159Asp) single nucleotide variant not provided [RCV001986927] Chr1:202602535 [GRCh38]
Chr1:202571663 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1054-3C>T single nucleotide variant not provided [RCV001970479] Chr1:202596966 [GRCh38]
Chr1:202566094 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.589C>T (p.Arg197Trp) single nucleotide variant not provided [RCV001968235] Chr1:202602422 [GRCh38]
Chr1:202571550 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.919+1G>A single nucleotide variant not provided [RCV002040808] Chr1:202600356 [GRCh38]
Chr1:202569484 [GRCh37]
Chr1:1q32.1
likely pathogenic
NM_177402.5(SYT2):c.884_904del (p.Lys295_Val302delinsMet) deletion not provided [RCV001909112] Chr1:202600372..202600392 [GRCh38]
Chr1:202569500..202569520 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q32.1(chr1:202638835-202876250)x3 copy number gain not provided [RCV001827631] Chr1:202638835..202876250 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV002006929] Chr1:202605714 [GRCh38]
Chr1:202574842 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.270GAA[3] (p.Lys93del) microsatellite not provided [RCV002020683] Chr1:202604519..202604521 [GRCh38]
Chr1:202573647..202573649 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1157G>A (p.Arg386Gln) single nucleotide variant not provided [RCV002020879] Chr1:202596860 [GRCh38]
Chr1:202565988 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.175C>T (p.Pro59Ser) single nucleotide variant not provided [RCV001910404] Chr1:202605598 [GRCh38]
Chr1:202574726 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.904G>A (p.Val302Met) single nucleotide variant not provided [RCV002018154] Chr1:202600372 [GRCh38]
Chr1:202569500 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.58G>A (p.Ala20Thr) single nucleotide variant not provided [RCV001944651] Chr1:202605715 [GRCh38]
Chr1:202574843 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.145G>A (p.Glu49Lys) single nucleotide variant not provided [RCV001876474] Chr1:202605628 [GRCh38]
Chr1:202574756 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.986A>G (p.Lys329Arg) single nucleotide variant not provided [RCV001962868] Chr1:202599285 [GRCh38]
Chr1:202568413 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.733A>G (p.Met245Val) single nucleotide variant not provided [RCV001916887] Chr1:202601958 [GRCh38]
Chr1:202571086 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.270GAA[2] (p.Lys92_Lys93del) microsatellite not provided [RCV001920967] Chr1:202604519..202604524 [GRCh38]
Chr1:202573647..202573652 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.590G>A (p.Arg197Gln) single nucleotide variant not provided [RCV002030065] Chr1:202602421 [GRCh38]
Chr1:202571549 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.348_353del (p.Asp118_Asp119del) deletion not provided [RCV001942882] Chr1:202603111..202603116 [GRCh38]
Chr1:202572239..202572244 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.513G>A (p.Met171Ile) single nucleotide variant not provided [RCV001974629] Chr1:202602498 [GRCh38]
Chr1:202571626 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.62C>T (p.Thr21Met) single nucleotide variant not provided [RCV001962281] Chr1:202605711 [GRCh38]
Chr1:202574839 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.410C>T (p.Pro137Leu) single nucleotide variant not provided [RCV001943767] Chr1:202603054 [GRCh38]
Chr1:202572182 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.576G>C (p.Glu192Asp) single nucleotide variant not provided [RCV001903765] Chr1:202602435 [GRCh38]
Chr1:202571563 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.122A>G (p.Glu41Gly) single nucleotide variant not provided [RCV001923162] Chr1:202605651 [GRCh38]
Chr1:202574779 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.421G>A (p.Gly141Ser) single nucleotide variant not provided [RCV002010785] Chr1:202603043 [GRCh38]
Chr1:202572171 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1060C>T (p.Gln354Ter) single nucleotide variant not provided [RCV001881420] Chr1:202596957 [GRCh38]
Chr1:202566085 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001919480] Chr1:202605771 [GRCh38]
Chr1:202574899 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.158A>G (p.Asn53Ser) single nucleotide variant not provided [RCV001937411] Chr1:202605615 [GRCh38]
Chr1:202574743 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.125A>G (p.Asp42Gly) single nucleotide variant not provided [RCV002017886] Chr1:202605648 [GRCh38]
Chr1:202574776 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.561GAA[2] (p.Lys190del) microsatellite not provided [RCV001901041] Chr1:202602442..202602444 [GRCh38]
Chr1:202571570..202571572 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1102A>G (p.Asn368Asp) single nucleotide variant not provided [RCV001877228] Chr1:202596915 [GRCh38]
Chr1:202566043 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.848C>G (p.Thr283Arg) single nucleotide variant not provided [RCV001951803] Chr1:202600428 [GRCh38]
Chr1:202569556 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.1010T>G (p.Phe337Cys) single nucleotide variant not provided [RCV001959749] Chr1:202599261 [GRCh38]
Chr1:202568389 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.965AGA[3] (p.Lys325del) microsatellite not provided [RCV002012516] Chr1:202599295..202599297 [GRCh38]
Chr1:202568423..202568425 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.640T>C (p.Tyr214His) single nucleotide variant not provided [RCV001989331] Chr1:202602051 [GRCh38]
Chr1:202571179 [GRCh37]
Chr1:1q32.1
uncertain significance
NM_177402.5(SYT2):c.633+19G>A single nucleotide variant not provided [RCV002187843] Chr1:202602359 [GRCh38]
Chr1:202571487 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.852C>T (p.Ala284=) single nucleotide variant not provided [RCV002128586] Chr1:202600424 [GRCh38]
Chr1:202569552 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1053+16G>A single nucleotide variant not provided [RCV002207328] Chr1:202599202 [GRCh38]
Chr1:202568330 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.840T>C (p.Tyr280=) single nucleotide variant not provided [RCV002148792] Chr1:202600436 [GRCh38]
Chr1:202569564 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.246C>T (p.Cys82=) single nucleotide variant not provided [RCV002127914] Chr1:202604554 [GRCh38]
Chr1:202573682 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.465+18G>C single nucleotide variant not provided [RCV002167458] Chr1:202602981 [GRCh38]
Chr1:202572109 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.920-4G>A single nucleotide variant not provided [RCV002214791] Chr1:202599355 [GRCh38]
Chr1:202568483 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.621C>T (p.Thr207=) single nucleotide variant not provided [RCV002173752] Chr1:202602390 [GRCh38]
Chr1:202571518 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.920-17G>A single nucleotide variant not provided [RCV002213717] Chr1:202599368 [GRCh38]
Chr1:202568496 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1014C>T (p.Asn338=) single nucleotide variant not provided [RCV002113549] Chr1:202599257 [GRCh38]
Chr1:202568385 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.294G>A (p.Lys98=) single nucleotide variant not provided [RCV002173044] Chr1:202604506 [GRCh38]
Chr1:202573634 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.459T>C (p.Ala153=) single nucleotide variant not provided [RCV002095589] Chr1:202603005 [GRCh38]
Chr1:202572133 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1125C>T (p.Phe375=) single nucleotide variant not provided [RCV002116934] Chr1:202596892 [GRCh38]
Chr1:202566020 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1054-8C>T single nucleotide variant not provided [RCV002079851] Chr1:202596971 [GRCh38]
Chr1:202566099 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1053+7G>A single nucleotide variant not provided [RCV002113999] Chr1:202599211 [GRCh38]
Chr1:202568339 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.57C>T (p.Thr19=) single nucleotide variant not provided [RCV002132015] Chr1:202605716 [GRCh38]
Chr1:202574844 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.909C>T (p.Gly303=) single nucleotide variant not provided [RCV002088468] Chr1:202600367 [GRCh38]
Chr1:202569495 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.639A>G (p.Pro213=) single nucleotide variant not provided [RCV002076733] Chr1:202602052 [GRCh38]
Chr1:202571180 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1053+174dup duplication not provided [RCV002221768]   likely benign
NM_177402.5(SYT2):c.466-16C>T single nucleotide variant not provided [RCV002220330] Chr1:202602561 [GRCh38]
Chr1:202571689 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.178+14del deletion not provided [RCV002154531] Chr1:202605581 [GRCh38]
Chr1:202574709 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1054-5del deletion not provided [RCV002177769] Chr1:202596968 [GRCh38]
Chr1:202566096 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.940C>T (p.Leu314=) single nucleotide variant not provided [RCV002217591] Chr1:202599331 [GRCh38]
Chr1:202568459 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.346-7C>T single nucleotide variant not provided [RCV002204384] Chr1:202603125 [GRCh38]
Chr1:202572253 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1167C>T (p.Ser389=) single nucleotide variant not provided [RCV002100189] Chr1:202596850 [GRCh38]
Chr1:202565978 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.831C>T (p.Ser277=) single nucleotide variant not provided [RCV002161282] Chr1:202600445 [GRCh38]
Chr1:202569573 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1053+14G>T single nucleotide variant not provided [RCV002181007] Chr1:202599204 [GRCh38]
Chr1:202568332 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.1041C>T (p.Phe347=) single nucleotide variant not provided [RCV002082402] Chr1:202599230 [GRCh38]
Chr1:202568358 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.465+15G>A single nucleotide variant not provided [RCV002155066] Chr1:202602984 [GRCh38]
Chr1:202572112 [GRCh37]
Chr1:1q32.1
benign
NM_177402.5(SYT2):c.345+11T>C single nucleotide variant not provided [RCV002121939] Chr1:202604444 [GRCh38]
Chr1:202573572 [GRCh37]
Chr1:1q32.1
likely benign
NM_177402.5(SYT2):c.917C>T (p.Ser306Leu) single nucleotide variant not provided [RCV002269505] Chr1:202600359 [GRCh38]
Chr1:202569487 [GRCh37]
Chr1:1q32.1
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_177402.5(SYT2):c.140T>C (p.Leu47Pro) single nucleotide variant not provided [RCV002281397] Chr1:202605633 [GRCh38]
Chr1:202574761 [GRCh37]
Chr1:1q32.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11510 AgrOrtholog
COSMIC SYT2 COSMIC
Ensembl Genes ENSG00000143858 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000356236 ENTREZGENE
  ENSP00000356236.1 UniProtKB/Swiss-Prot
  ENSP00000356237 ENTREZGENE
  ENSP00000356237.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367267 ENTREZGENE
  ENST00000367267.5 UniProtKB/Swiss-Prot
  ENST00000367268 ENTREZGENE
  ENST00000367268.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143858 GTEx
HGNC ID HGNC:11510 ENTREZGENE
Human Proteome Map SYT2 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127833 UniProtKB/Swiss-Prot
NCBI Gene 127833 ENTREZGENE
OMIM 600104 OMIM
  616040 OMIM
  619461 OMIM
PANTHER PTHR10024:SF223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36291 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOTAGMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9B3 ENTREZGENE
  A4FU00_HUMAN UniProtKB/TrEMBL
  Q8N9I0 ENTREZGENE
  Q8NBE5 ENTREZGENE
  SYT2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q496K5 UniProtKB/Swiss-Prot
  Q8NBE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 SYT2  synaptotagmin 2    synaptotagmin II  Symbol and/or name change 5135510 APPROVED
2011-08-17 SYT2  synaptotagmin II  SYT2  synaptotagmin II  Symbol and/or name change 5135510 APPROVED