ESYT3 (extended synaptotagmin 3) - Rat Genome Database

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Gene: ESYT3 (extended synaptotagmin 3) Homo sapiens
Analyze
Symbol: ESYT3
Name: extended synaptotagmin 3
RGD ID: 1605327
HGNC Page HGNC:24295
Description: Predicted to enable calcium ion binding activity and phospholipid binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: chr3 synaptotagmin; CHR3SYT; E-Syt3; extended synaptotagmin like protein 3; extended synaptotagmin protein 3; extended synaptotagmin-3; extended synaptotagmin-like protein 3; FAM62C; family with sequence similarity 62 (C2 domain containing), member C
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
GRCh383138,434,616 - 138,481,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3138,434,586 - 138,481,686 (+)EnsemblGRCh38hg38GRCh38
GRCh373138,153,458 - 138,200,528 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,636,109 - 139,678,399 (+)NCBINCBI36Build 36hg18NCBI36
Celera3136,578,324 - 136,622,170 (+)NCBICelera
Cytogenetic Map3q22.3NCBI
HuRef3135,528,375 - 135,572,226 (+)NCBIHuRef
CHM1_13138,117,188 - 138,161,034 (+)NCBICHM1_1
T2T-CHM13v2.03141,175,169 - 141,222,247 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10737800   PMID:11543631   PMID:12477932   PMID:15238157   PMID:16344560   PMID:17360437   PMID:17672888   PMID:21733517   PMID:21873635   PMID:23791178   PMID:24999758  
PMID:25922075   PMID:27065097   PMID:30021884   PMID:30220461   PMID:31586073   PMID:32235678   PMID:34197731   PMID:35906200   PMID:37657044  


Genomics

Comparative Map Data
ESYT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383138,434,616 - 138,481,686 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3138,434,586 - 138,481,686 (+)EnsemblGRCh38hg38GRCh38
GRCh373138,153,458 - 138,200,528 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,636,109 - 139,678,399 (+)NCBINCBI36Build 36hg18NCBI36
Celera3136,578,324 - 136,622,170 (+)NCBICelera
Cytogenetic Map3q22.3NCBI
HuRef3135,528,375 - 135,572,226 (+)NCBIHuRef
CHM1_13138,117,188 - 138,161,034 (+)NCBICHM1_1
T2T-CHM13v2.03141,175,169 - 141,222,247 (+)NCBIT2T-CHM13v2.0
Esyt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39999,192,016 - 99,242,210 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl999,192,016 - 99,240,610 (-)EnsemblGRCm39 Ensembl
GRCm38999,309,963 - 99,360,159 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl999,309,963 - 99,358,557 (-)EnsemblGRCm38mm10GRCm38
MGSCv37999,210,386 - 99,258,949 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36999,119,495 - 99,167,882 (-)NCBIMGSCv36mm8
Celera998,843,495 - 98,893,869 (-)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map951.54NCBI
Esyt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88108,749,761 - 108,796,630 (-)NCBIGRCr8
mRatBN7.2899,870,418 - 99,917,298 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl899,871,149 - 99,917,232 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.08107,555,417 - 107,602,414 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8107,555,277 - 107,602,263 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08106,981,121 - 107,027,963 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48104,171,726 - 104,216,761 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera899,272,485 - 99,319,481 (-)NCBICelera
Cytogenetic Map8q31NCBI
Esyt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955501538,538 - 585,505 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955501537,195 - 585,640 (-)NCBIChiLan1.0ChiLan1.0
ESYT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22136,340,722 - 136,384,571 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13136,345,050 - 136,392,918 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03135,463,698 - 135,509,417 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13142,913,450 - 142,958,684 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3142,913,450 - 142,958,684 (+)Ensemblpanpan1.1panPan2
ESYT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12334,645,248 - 34,692,178 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2334,645,087 - 34,691,939 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2334,639,173 - 34,685,862 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02335,187,397 - 35,234,172 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2335,187,162 - 35,233,932 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12334,868,467 - 34,915,155 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02334,934,284 - 34,980,995 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02335,185,169 - 35,231,861 (+)NCBIUU_Cfam_GSD_1.0
Esyt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560274,005,161 - 74,046,610 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936540744,980 - 785,113 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936540744,980 - 786,303 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESYT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1379,245,836 - 79,297,334 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11379,245,818 - 79,295,471 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21386,861,629 - 86,898,873 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ESYT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11552,062,156 - 52,130,942 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1552,062,357 - 52,104,852 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604125,074,492 - 25,119,220 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Esyt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473014,986,750 - 15,033,870 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473014,986,583 - 15,035,163 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ESYT3
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3 copy number gain See cases [RCV000051534] Chr3:137593514..138443019 [GRCh38]
Chr3:137312356..138161861 [GRCh37]
Chr3:138795046..139644551 [NCBI36]
Chr3:3q22.3
uncertain significance
GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3 copy number gain See cases [RCV000051535] Chr3:138296035..139015548 [GRCh38]
Chr3:138014877..138734390 [GRCh37]
Chr3:139497567..140217080 [NCBI36]
Chr3:3q22.3-23
uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3 copy number gain See cases [RCV000143680] Chr3:138468173..139001141 [GRCh38]
Chr3:138187015..138719983 [GRCh37]
Chr3:139669705..140202673 [NCBI36]
Chr3:3q22.3-23
likely benign|uncertain significance
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_031913.5(ESYT3):c.1129C>G (p.Leu377Val) single nucleotide variant not specified [RCV004325456] Chr3:138465381 [GRCh38]
Chr3:138184223 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23
uncertain significance
GRCh37/hg19 3q22.3(chr3:138160487-138313518)x1 copy number loss not provided [RCV000682309] Chr3:138160487..138313518 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_031913.5(ESYT3):c.1926G>T (p.Arg642Ser) single nucleotide variant not specified [RCV004319414] Chr3:138472548 [GRCh38]
Chr3:138191390 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
GRCh37/hg19 3q22.3(chr3:138111237-138209572)x3 copy number gain not provided [RCV000847672] Chr3:138111237..138209572 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3q22.3(chr3:138111237-138265714)x3 copy number gain not provided [RCV000848665] Chr3:138111237..138265714 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.782C>T (p.Ala261Val) single nucleotide variant not specified [RCV004292104] Chr3:138460654 [GRCh38]
Chr3:138179496 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NC_000003.11:g.(?_137781658)_(139258560_?)dup duplication not provided [RCV001920549] Chr3:137781658..139258560 [GRCh37]
Chr3:3q22.3-23
uncertain significance
NC_000003.11:g.(?_137781658)_(138665815_?)del deletion not provided [RCV003122619] Chr3:137781658..138665815 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_031913.5(ESYT3):c.1567G>A (p.Ala523Thr) single nucleotide variant not specified [RCV004138256] Chr3:138470123 [GRCh38]
Chr3:138188965 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1636C>T (p.Pro546Ser) single nucleotide variant not specified [RCV004076581] Chr3:138470922 [GRCh38]
Chr3:138189764 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2050A>G (p.Ser684Gly) single nucleotide variant not specified [RCV004092525] Chr3:138472672 [GRCh38]
Chr3:138191514 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1339G>A (p.Val447Met) single nucleotide variant not specified [RCV004224241] Chr3:138468685 [GRCh38]
Chr3:138187527 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2257C>T (p.Arg753Trp) single nucleotide variant not specified [RCV004140530] Chr3:138473555 [GRCh38]
Chr3:138192397 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.770A>G (p.Asn257Ser) single nucleotide variant not specified [RCV004129954] Chr3:138460642 [GRCh38]
Chr3:138179484 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.461A>C (p.His154Pro) single nucleotide variant not specified [RCV004088362] Chr3:138455285 [GRCh38]
Chr3:138174127 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1738C>T (p.Arg580Trp) single nucleotide variant not specified [RCV004190316] Chr3:138471024 [GRCh38]
Chr3:138189866 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.542C>T (p.Thr181Met) single nucleotide variant not specified [RCV004131088] Chr3:138457605 [GRCh38]
Chr3:138176447 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1694A>G (p.Asp565Gly) single nucleotide variant not specified [RCV004157678] Chr3:138470980 [GRCh38]
Chr3:138189822 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.28G>T (p.Gly10Trp) single nucleotide variant not specified [RCV004209251] Chr3:138434826 [GRCh38]
Chr3:138153668 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1691T>C (p.Leu564Pro) single nucleotide variant not specified [RCV004208555] Chr3:138470977 [GRCh38]
Chr3:138189819 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1703G>A (p.Gly568Asp) single nucleotide variant not specified [RCV004117593] Chr3:138470989 [GRCh38]
Chr3:138189831 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1558C>T (p.His520Tyr) single nucleotide variant not specified [RCV004180282] Chr3:138470114 [GRCh38]
Chr3:138188956 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.421C>T (p.Arg141Trp) single nucleotide variant not specified [RCV004216145] Chr3:138455245 [GRCh38]
Chr3:138174087 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.67C>A (p.Pro23Thr) single nucleotide variant not specified [RCV004180219] Chr3:138434865 [GRCh38]
Chr3:138153707 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.832A>G (p.Thr278Ala) single nucleotide variant not specified [RCV004212643] Chr3:138462123 [GRCh38]
Chr3:138180965 [GRCh37]
Chr3:3q22.3
likely benign
NM_031913.5(ESYT3):c.1835A>T (p.Asn612Ile) single nucleotide variant not specified [RCV004210009] Chr3:138472457 [GRCh38]
Chr3:138191299 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.895C>A (p.Leu299Met) single nucleotide variant not specified [RCV004072264] Chr3:138462186 [GRCh38]
Chr3:138181028 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2198C>T (p.Ser733Phe) single nucleotide variant not specified [RCV004232005] Chr3:138472820 [GRCh38]
Chr3:138191662 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1155T>A (p.Asp385Glu) single nucleotide variant not specified [RCV004110406] Chr3:138465407 [GRCh38]
Chr3:138184249 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.853C>T (p.Arg285Cys) single nucleotide variant not specified [RCV004176748] Chr3:138462144 [GRCh38]
Chr3:138180986 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1814T>A (p.Leu605His) single nucleotide variant not specified [RCV004097618] Chr3:138472436 [GRCh38]
Chr3:138191278 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2438G>A (p.Arg813Gln) single nucleotide variant not specified [RCV004186451] Chr3:138474322 [GRCh38]
Chr3:138193164 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1181G>A (p.Cys394Tyr) single nucleotide variant not specified [RCV004221735] Chr3:138467572 [GRCh38]
Chr3:138186414 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1261C>T (p.Arg421Trp) single nucleotide variant not specified [RCV004137206] Chr3:138468147 [GRCh38]
Chr3:138186989 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.779A>C (p.Asp260Ala) single nucleotide variant not specified [RCV004101084] Chr3:138460651 [GRCh38]
Chr3:138179493 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1669A>G (p.Thr557Ala) single nucleotide variant not specified [RCV004157316] Chr3:138470955 [GRCh38]
Chr3:138189797 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1837C>G (p.Gln613Glu) single nucleotide variant not specified [RCV004120641] Chr3:138472459 [GRCh38]
Chr3:138191301 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2518G>T (p.Val840Phe) single nucleotide variant not specified [RCV004089703] Chr3:138476272 [GRCh38]
Chr3:138195114 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2489T>C (p.Met830Thr) single nucleotide variant not specified [RCV004278204] Chr3:138476243 [GRCh38]
Chr3:138195085 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1488G>C (p.Lys496Asn) single nucleotide variant not specified [RCV004275061] Chr3:138469489 [GRCh38]
Chr3:138188331 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.377C>T (p.Ser126Phe) single nucleotide variant not specified [RCV004278244] Chr3:138455201 [GRCh38]
Chr3:138174043 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1961C>G (p.Ala654Gly) single nucleotide variant not specified [RCV004266712] Chr3:138472583 [GRCh38]
Chr3:138191425 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1034G>A (p.Arg345Gln) single nucleotide variant not specified [RCV004299992] Chr3:138464463 [GRCh38]
Chr3:138183305 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2255G>A (p.Arg752Gln) single nucleotide variant not specified [RCV004350438] Chr3:138473553 [GRCh38]
Chr3:138192395 [GRCh37]
Chr3:3q22.3
likely benign
NM_031913.5(ESYT3):c.895C>G (p.Leu299Val) single nucleotide variant not specified [RCV004350452] Chr3:138462186 [GRCh38]
Chr3:138181028 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1760G>A (p.Arg587Gln) single nucleotide variant not specified [RCV004359548] Chr3:138472382 [GRCh38]
Chr3:138191224 [GRCh37]
Chr3:3q22.3
uncertain significance
Single allele deletion not provided [RCV003448666] Chr3:137912620..141811656 [GRCh37]
Chr3:3q22.3-23
pathogenic
NM_031913.5(ESYT3):c.1781C>T (p.Thr594Ile) single nucleotide variant not specified [RCV004383079] Chr3:138472403 [GRCh38]
Chr3:138191245 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.771C>A (p.Asn257Lys) single nucleotide variant not specified [RCV004383090] Chr3:138460643 [GRCh38]
Chr3:138179485 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2062A>G (p.Ile688Val) single nucleotide variant not specified [RCV004383083] Chr3:138472684 [GRCh38]
Chr3:138191526 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1025A>G (p.Gln342Arg) single nucleotide variant not specified [RCV004383074] Chr3:138464454 [GRCh38]
Chr3:138183296 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1470A>T (p.Lys490Asn) single nucleotide variant not specified [RCV004383076] Chr3:138469471 [GRCh38]
Chr3:138188313 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1681C>T (p.Arg561Cys) single nucleotide variant not specified [RCV004383078] Chr3:138470967 [GRCh38]
Chr3:138189809 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1973C>T (p.Thr658Ile) single nucleotide variant not specified [RCV004383082] Chr3:138472595 [GRCh38]
Chr3:138191437 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.311A>T (p.Gln104Leu) single nucleotide variant not specified [RCV004383088] Chr3:138435109 [GRCh38]
Chr3:138153951 [GRCh37]
Chr3:3q22.3
likely benign
NM_031913.5(ESYT3):c.1888C>A (p.Pro630Thr) single nucleotide variant not specified [RCV004383080] Chr3:138472510 [GRCh38]
Chr3:138191352 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2459T>C (p.Phe820Ser) single nucleotide variant not specified [RCV004383086] Chr3:138474343 [GRCh38]
Chr3:138193185 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1918G>A (p.Val640Ile) single nucleotide variant not specified [RCV004383081] Chr3:138472540 [GRCh38]
Chr3:138191382 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2507G>A (p.Arg836Lys) single nucleotide variant not specified [RCV004383087] Chr3:138476261 [GRCh38]
Chr3:138195103 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1306G>A (p.Glu436Lys) single nucleotide variant not specified [RCV004383075] Chr3:138468192 [GRCh38]
Chr3:138187034 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1562A>G (p.Asn521Ser) single nucleotide variant not specified [RCV004383077] Chr3:138470118 [GRCh38]
Chr3:138188960 [GRCh37]
Chr3:3q22.3
likely benign
NM_031913.5(ESYT3):c.2351G>A (p.Cys784Tyr) single nucleotide variant not specified [RCV004383085] Chr3:138474235 [GRCh38]
Chr3:138193077 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.218G>T (p.Arg73Leu) single nucleotide variant not specified [RCV004383084] Chr3:138435016 [GRCh38]
Chr3:138153858 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.506G>A (p.Cys169Tyr) single nucleotide variant not specified [RCV004383089] Chr3:138457569 [GRCh38]
Chr3:138176411 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2219A>C (p.Asp740Ala) single nucleotide variant not specified [RCV004618187] Chr3:138472841 [GRCh38]
Chr3:138191683 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1750G>C (p.Val584Leu) single nucleotide variant not specified [RCV004618188] Chr3:138472372 [GRCh38]
Chr3:138191214 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1033C>T (p.Arg345Trp) single nucleotide variant not specified [RCV004618189] Chr3:138464462 [GRCh38]
Chr3:138183304 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.824T>G (p.Leu275Arg) single nucleotide variant not specified [RCV004618193] Chr3:138462115 [GRCh38]
Chr3:138180957 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1037G>C (p.Ser346Thr) single nucleotide variant not specified [RCV004618190] Chr3:138464466 [GRCh38]
Chr3:138183308 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1136A>G (p.Asp379Gly) single nucleotide variant not specified [RCV004622697] Chr3:138465388 [GRCh38]
Chr3:138184230 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.557G>T (p.Arg186Leu) single nucleotide variant not specified [RCV004622696] Chr3:138457620 [GRCh38]
Chr3:138176462 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2417G>A (p.Arg806His) single nucleotide variant not specified [RCV004618184] Chr3:138474301 [GRCh38]
Chr3:138193143 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1183C>G (p.Leu395Val) single nucleotide variant not specified [RCV004618191] Chr3:138467574 [GRCh38]
Chr3:138186416 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1957G>A (p.Val653Ile) single nucleotide variant not specified [RCV004618185] Chr3:138472579 [GRCh38]
Chr3:138191421 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.1511C>T (p.Pro504Leu) single nucleotide variant not specified [RCV004618186] Chr3:138470067 [GRCh38]
Chr3:138188909 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2561A>G (p.Lys854Arg) single nucleotide variant not specified [RCV004622699] Chr3:138476315 [GRCh38]
Chr3:138195157 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_031913.5(ESYT3):c.2291A>G (p.Tyr764Cys) single nucleotide variant not specified [RCV004622698] Chr3:138473589 [GRCh38]
Chr3:138192431 [GRCh37]
Chr3:3q22.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1784
Count of miRNA genes:988
Interacting mature miRNAs:1168
Transcripts:ENST00000289135, ENST00000389567, ENST00000460133, ENST00000460325, ENST00000468103, ENST00000486831, ENST00000490835
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597126743GWAS1222817_HHodgkins lymphoma QTL GWAS1222817 (human)2e-11Hodgkins lymphoma3138435081138435082Human
597117429GWAS1213503_Hmathematical ability QTL GWAS1213503 (human)3e-13mathematical ability3138435953138435954Human
407404314GWAS1053290_Hobsolete_red blood cell distribution width QTL GWAS1053290 (human)2e-08obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3138452200138452201Human
597111362GWAS1207436_Hmathematical ability QTL GWAS1207436 (human)5e-14mathematical ability3138435953138435954Human
597049921GWAS1145995_HRed cell distribution width QTL GWAS1145995 (human)2e-08Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3138452200138452201Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407061192GWAS710168_Hchronotype measurement QTL GWAS710168 (human)3e-09chronotype measurement3138435953138435954Human
596958143GWAS1077662_HRed cell distribution width QTL GWAS1077662 (human)2e-08Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3138452200138452201Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human

Markers in Region
RH48298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373138,193,220 - 138,193,364UniSTSGRCh37
Build 363139,675,910 - 139,676,054RGDNCBI36
Celera3136,618,134 - 136,618,278RGD
Cytogenetic Map3q22.3UniSTS
HuRef3135,568,190 - 135,568,334UniSTS
GeneMap99-GB4 RH Map3493.59UniSTS
NCBI RH Map31200.8UniSTS


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
1202 2416 2788 2240 4957 1684 2303 5 582 1222 424 2256 6502 5737 51 3730 831 1739 1609 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001322831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ303366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ697972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW513592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW792835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ435892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ993202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000289135   ⟹   ENSP00000289135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,434,625 - 138,462,473 (+)Ensembl
Ensembl Acc Id: ENST00000389567   ⟹   ENSP00000374218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,434,616 - 138,479,925 (+)Ensembl
Ensembl Acc Id: ENST00000460133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,473,154 - 138,481,686 (+)Ensembl
Ensembl Acc Id: ENST00000460325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,473,536 - 138,474,652 (+)Ensembl
Ensembl Acc Id: ENST00000468103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,469,243 - 138,470,259 (+)Ensembl
Ensembl Acc Id: ENST00000486831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,434,586 - 138,477,060 (+)Ensembl
Ensembl Acc Id: ENST00000490835   ⟹   ENSP00000417388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,434,616 - 138,472,833 (+)Ensembl
RefSeq Acc Id: NM_001322831   ⟹   NP_001309760
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,481,686 (+)NCBI
CHM1_13138,117,188 - 138,162,562 (+)NCBI
T2T-CHM13v2.03141,175,169 - 141,222,247 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322834   ⟹   NP_001309763
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,481,686 (+)NCBI
CHM1_13138,117,188 - 138,162,562 (+)NCBI
T2T-CHM13v2.03141,175,169 - 141,222,247 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031913   ⟹   NP_114119
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,479,925 (+)NCBI
GRCh373138,153,415 - 138,197,910 (+)NCBI
Build 363139,636,109 - 139,678,399 (+)NCBI Archive
Celera3136,578,324 - 136,622,170 (+)RGD
HuRef3135,528,375 - 135,572,226 (+)ENTREZGENE
CHM1_13138,117,188 - 138,162,562 (+)NCBI
T2T-CHM13v2.03141,175,169 - 141,220,489 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136409
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,479,925 (+)NCBI
CHM1_13138,117,188 - 138,162,562 (+)NCBI
T2T-CHM13v2.03141,175,169 - 141,220,489 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007307   ⟹   XP_016862796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,447,007 - 138,479,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449050   ⟹   XP_047305006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,476,326 (+)NCBI
RefSeq Acc Id: XM_047449051   ⟹   XP_047305007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,470,153 (+)NCBI
RefSeq Acc Id: XM_047449052   ⟹   XP_047305008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,470,146 (+)NCBI
RefSeq Acc Id: XM_054348061   ⟹   XP_054204036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03141,175,169 - 141,216,894 (+)NCBI
RefSeq Acc Id: XM_054348062   ⟹   XP_054204037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03141,187,576 - 141,220,489 (+)NCBI
RefSeq Acc Id: XM_054348063   ⟹   XP_054204038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03141,175,169 - 141,210,721 (+)NCBI
RefSeq Acc Id: XM_054348064   ⟹   XP_054204039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03141,175,169 - 141,210,714 (+)NCBI
RefSeq Acc Id: NP_114119   ⟸   NM_031913
- Peptide Label: isoform a
- UniProtKB: A0FGR9 (UniProtKB/Swiss-Prot),   Q8NDZ5 (UniProtKB/Swiss-Prot),   Q6ZV21 (UniProtKB/Swiss-Prot),   A8K0G5 (UniProtKB/Swiss-Prot),   Q9BQR9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309760   ⟸   NM_001322831
- Peptide Label: isoform a
- UniProtKB: A0FGR9 (UniProtKB/Swiss-Prot),   Q8NDZ5 (UniProtKB/Swiss-Prot),   Q6ZV21 (UniProtKB/Swiss-Prot),   A8K0G5 (UniProtKB/Swiss-Prot),   Q9BQR9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309763   ⟸   NM_001322834
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_016862796   ⟸   XM_017007307
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000417388   ⟸   ENST00000490835
Ensembl Acc Id: ENSP00000374218   ⟸   ENST00000389567
Ensembl Acc Id: ENSP00000289135   ⟸   ENST00000289135
RefSeq Acc Id: XP_047305006   ⟸   XM_047449050
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047305007   ⟸   XM_047449051
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047305008   ⟸   XM_047449052
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204036   ⟸   XM_054348061
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204038   ⟸   XM_054348063
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204039   ⟸   XM_054348064
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204037   ⟸   XM_054348062
- Peptide Label: isoform X2
Protein Domains
C2   SMP-LTD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0FGR9-F1-model_v2 AlphaFold A0FGR9 1-886 view protein structure

Promoters
RGD ID:6865806
Promoter ID:EPDNEW_H6068
Type:initiation region
Name:ESYT3_1
Description:extended synaptotagmin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,434,616 - 138,434,676EPDNEW
RGD ID:6801027
Promoter ID:HG_KWN:46317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:ENST00000289135,   ENST00000383175,   NM_031913,   OTTHUMT00000303994,   UC010HUG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363139,635,761 - 139,636,261 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24295 AgrOrtholog
COSMIC ESYT3 COSMIC
Ensembl Genes ENSG00000158220 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289135.4 UniProtKB/TrEMBL
  ENST00000389567 ENTREZGENE
  ENST00000389567.9 UniProtKB/Swiss-Prot
  ENST00000490835 ENTREZGENE
  ENST00000490835.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot
GTEx ENSG00000158220 GTEx
HGNC ID HGNC:24295 ENTREZGENE
Human Proteome Map ESYT3 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot
  C2_domain_sf UniProtKB/Swiss-Prot
  C2C_KIAA1228 UniProtKB/Swiss-Prot
  Ext_Synaptotagmin_C2A UniProtKB/Swiss-Prot
  Ext_Synaptotagmin_C2B UniProtKB/Swiss-Prot
  Extended_Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMP_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin_SMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83850 UniProtKB/Swiss-Prot
NCBI Gene 83850 ENTREZGENE
OMIM 616692 OMIM
PANTHER EXTENDED SYNAPTOTAGMIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 2, ISOFORM C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot
  SMP_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165697118 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot
PROSITE PS50004 UniProtKB/Swiss-Prot
  SMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot
UniProt A0FGR9 ENTREZGENE
  A8K0G5 ENTREZGENE
  ESYT3_HUMAN UniProtKB/Swiss-Prot
  H7BXJ6_HUMAN UniProtKB/TrEMBL
  Q6ZV21 ENTREZGENE
  Q8NDZ5 ENTREZGENE
  Q9BQR9 ENTREZGENE
UniProt Secondary A8K0G5 UniProtKB/Swiss-Prot
  Q6ZV21 UniProtKB/Swiss-Prot
  Q8NDZ5 UniProtKB/Swiss-Prot
  Q9BQR9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 ESYT3  extended synaptotagmin 3    extended synaptotagmin protein 3  Symbol and/or name change 5135510 APPROVED
2016-03-14 ESYT3  extended synaptotagmin protein 3    extended synaptotagmin like protein 3  Symbol and/or name change 5135510 APPROVED
2016-02-02 ESYT3  extended synaptotagmin like protein 3    extended synaptotagmin-like protein 3  Symbol and/or name change 5135510 APPROVED