SYN2 (synapsin II) - Rat Genome Database

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Gene: SYN2 (synapsin II) Homo sapiens
Analyze
Symbol: SYN2
Name: synapsin II
RGD ID: 736267
HGNC Page HGNC:11495
Description: Predicted to enable ATP binding activity. Predicted to be involved in neurotransmitter secretion. Predicted to be located in presynapse. Predicted to be part of SNARE complex. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and synaptic vesicle membrane. Predicted to be extrinsic component of synaptic vesicle membrane. Implicated in schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: synapsin-2; SYNII; SYNIIa; SYNIIb
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
GRCh38312,004,388 - 12,192,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,004,388 - 12,192,032 (+)EnsemblGRCh38hg38GRCh38
GRCh37312,045,862 - 12,233,532 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,020,862 - 12,208,532 (+)NCBINCBI36Build 36hg18NCBI36
Build 34312,020,864 - 12,207,885NCBI
Celera311,982,988 - 12,170,949 (+)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef311,979,136 - 12,167,274 (+)NCBIHuRef
CHM1_1311,995,629 - 12,183,794 (+)NCBICHM1_1
T2T-CHM13v2.0312,002,345 - 12,190,266 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
ATP  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clozapine  (ISO)
cocaine  (ISO)
copper(II) chloride  (ISO)
curcumin  (ISO)
decabromodiphenyl ether  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
gamma-aminobutyric acid  (ISO)
gamma-tocopherol  (ISO)
genistein  (ISO)
glycidol  (ISO)
haloperidol  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nitroglycerin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (EXP)
phencyclidine  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
prostaglandin F2alpha  (ISO)
Ptaquiloside  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tacrine  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tocopherol  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2506642   PMID:7592648   PMID:8430330   PMID:8530057   PMID:8964517   PMID:9430678   PMID:9463375   PMID:10358015   PMID:10565545   PMID:10571231   PMID:10578110   PMID:11032911  
PMID:11571277   PMID:11867766   PMID:12477932   PMID:14702039   PMID:15217342   PMID:15271586   PMID:15449241   PMID:16131404   PMID:16712791   PMID:16751776   PMID:17766091   PMID:17913586  
PMID:18372903   PMID:19665806   PMID:19913121   PMID:20034013   PMID:20379614   PMID:20628086   PMID:21465568   PMID:21565611   PMID:21873635   PMID:22139419   PMID:22384280   PMID:22558273  
PMID:22571925   PMID:22581228   PMID:23406870   PMID:23443540   PMID:23492904   PMID:23806299   PMID:23896626   PMID:23956174   PMID:25088614   PMID:26186194   PMID:27515700   PMID:28298427  
PMID:28514442   PMID:29763751   PMID:29791485   PMID:30862715   PMID:33961781   PMID:35271311   PMID:35654790   PMID:37468549  


Genomics

Comparative Map Data
SYN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38312,004,388 - 12,192,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl312,004,388 - 12,192,032 (+)EnsemblGRCh38hg38GRCh38
GRCh37312,045,862 - 12,233,532 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36312,020,862 - 12,208,532 (+)NCBINCBI36Build 36hg18NCBI36
Build 34312,020,864 - 12,207,885NCBI
Celera311,982,988 - 12,170,949 (+)NCBICelera
Cytogenetic Map3p25.2NCBI
HuRef311,979,136 - 12,167,274 (+)NCBIHuRef
CHM1_1311,995,629 - 12,183,794 (+)NCBICHM1_1
T2T-CHM13v2.0312,002,345 - 12,190,266 (+)NCBIT2T-CHM13v2.0
Syn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,111,863 - 115,259,587 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6115,111,863 - 115,258,967 (+)EnsemblGRCm39 Ensembl
GRCm386115,134,902 - 115,282,626 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,134,902 - 115,282,006 (+)EnsemblGRCm38mm10GRCm38
MGSCv376115,084,920 - 115,232,644 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366115,916,516 - 116,057,028 (+)NCBIMGSCv36mm8
MGSCv366115,100,521 - 115,240,707 (+)NCBIMGSCv36mm8
Celera6116,972,908 - 117,121,654 (+)NCBICelera
Cytogenetic Map6E3NCBI
cM Map653.2NCBI
Syn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84149,858,919 - 150,016,845 (+)NCBIGRCr8
mRatBN7.24148,178,846 - 148,347,010 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4148,186,270 - 148,344,192 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4154,411,352 - 154,569,498 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04150,194,433 - 150,352,589 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04148,818,234 - 148,976,405 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04147,037,179 - 147,195,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,037,179 - 147,195,096 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04210,326,340 - 210,483,842 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44151,255,241 - 151,413,220 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14151,500,081 - 151,650,682 (+)NCBI
Celera4137,080,501 - 137,237,898 (+)NCBICelera
Cytogenetic Map4q42NCBI
Syn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542914,676,286 - 14,724,625 (+)NCBIChiLan1.0ChiLan1.0
SYN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2211,996,087 - 12,180,017 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1312,000,852 - 12,184,778 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0311,935,680 - 12,118,981 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1312,275,084 - 12,465,806 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl312,282,573 - 12,464,413 (+)Ensemblpanpan1.1panPan2
SYN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1206,368,348 - 6,569,355 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl206,369,122 - 6,568,508 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha206,404,468 - 6,604,803 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0206,397,481 - 6,598,475 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl206,397,505 - 6,598,637 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1206,115,658 - 6,316,632 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0206,466,601 - 6,671,741 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0206,442,191 - 6,642,971 (-)NCBIUU_Cfam_GSD_1.0
Syn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494217,360,718 - 17,449,110 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366021,461,338 - 1,507,272 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366021,460,602 - 1,506,509 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SYN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,050,535 - 68,221,496 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,050,015 - 68,221,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21375,262,707 - 75,435,410 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SYN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12247,994,593 - 48,171,291 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2248,092,452 - 48,171,492 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041118,328,888 - 118,521,429 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Syn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624956303,011 - 349,857 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624956302,239 - 467,319 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SYN2
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_003256.4(TIMP4):c.574G>A (p.Ala192Thr) single nucleotide variant not specified [RCV004294024] Chr3:12153616 [GRCh38]
Chr3:12195116 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NM_133625.6(SYN2):c.1369+21G>C single nucleotide variant not provided [RCV000439417] Chr3:12183393 [GRCh38]
Chr3:12224893 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_133625.6(SYN2):c.905C>G (p.Ala302Gly) single nucleotide variant not provided [RCV000483331] Chr3:12162079 [GRCh38]
Chr3:12203579 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1571del (p.Leu524fs) deletion not provided [RCV000482681] Chr3:12187570 [GRCh38]
Chr3:12229070 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
NM_003256.4(TIMP4):c.71C>T (p.Pro24Leu) single nucleotide variant not specified [RCV004295850] Chr3:12158770 [GRCh38]
Chr3:12200270 [GRCh37]
Chr3:3p25.2		 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 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
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_133625.6(SYN2):c.1516A>G (p.Thr506Ala) single nucleotide variant SYN2-related disorder [RCV003984085]|not provided [RCV001725660] Chr3:12187515 [GRCh38]
Chr3:12229015 [GRCh37]
Chr3:3p25.2		 benign
NM_003256.4(TIMP4):c.63G>A (p.Leu21=) single nucleotide variant not provided [RCV000880765] Chr3:12158778 [GRCh38]
Chr3:12200278 [GRCh37]
Chr3:3p25.2		 benign
NM_003256.4(TIMP4):c.402C>T (p.Ile134=) single nucleotide variant not provided [RCV000922202] Chr3:12154402 [GRCh38]
Chr3:12195902 [GRCh37]
Chr3:3p25.2		 likely benign
NM_133625.6(SYN2):c.1666C>T (p.Arg556Trp) single nucleotide variant not specified [RCV004289445] Chr3:12190542 [GRCh38]
Chr3:12232042 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1 copy number loss Schizophrenia [RCV001825255] Chr3:10970972..12295919 [GRCh37]
Chr3:3p25.3-25.2		 not provided
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1 copy number loss not provided [RCV001827612] Chr3:10922740..12456978 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_133625.6(SYN2):c.1585C>T (p.Gln529Ter) single nucleotide variant Schizophrenia [RCV002289042] Chr3:12187584 [GRCh38]
Chr3:12229084 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.664G>A (p.Val222Ile) single nucleotide variant not specified [RCV004219242] Chr3:12153526 [GRCh38]
Chr3:12195026 [GRCh37]
Chr3:3p25.2		 likely benign
NM_003256.4(TIMP4):c.52C>G (p.Leu18Val) single nucleotide variant not specified [RCV004175319] Chr3:12158789 [GRCh38]
Chr3:12200289 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1499G>T (p.Arg500Leu) single nucleotide variant not specified [RCV004183898] Chr3:12187498 [GRCh38]
Chr3:12228998 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.547G>A (p.Val183Met) single nucleotide variant not specified [RCV004117939] Chr3:12145698 [GRCh38]
Chr3:12187198 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1522G>A (p.Gly508Arg) single nucleotide variant not specified [RCV004077010] Chr3:12187521 [GRCh38]
Chr3:12229021 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.161G>A (p.Ser54Asn) single nucleotide variant not specified [RCV004129032] Chr3:12157461 [GRCh38]
Chr3:12198961 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.851A>G (p.Asn284Ser) single nucleotide variant not specified [RCV004166064] Chr3:12162025 [GRCh38]
Chr3:12203525 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.53T>C (p.Leu18Pro) single nucleotide variant not specified [RCV004108123] Chr3:12158788 [GRCh38]
Chr3:12200288 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.400A>G (p.Ile134Val) single nucleotide variant not specified [RCV004199779] Chr3:12154404 [GRCh38]
Chr3:12195904 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.125G>A (p.Cys42Tyr) single nucleotide variant not specified [RCV004173763] Chr3:12158716 [GRCh38]
Chr3:12200216 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1096G>A (p.Gly366Ser) single nucleotide variant not specified [RCV004089826] Chr3:12168416 [GRCh38]
Chr3:12209916 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1426C>T (p.Arg476Trp) single nucleotide variant not specified [RCV004228503] Chr3:12187425 [GRCh38]
Chr3:12228925 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.393C>G (p.Cys131Trp) single nucleotide variant not specified [RCV004122010] Chr3:12154411 [GRCh38]
Chr3:12195911 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.348G>C (p.Leu116Phe) single nucleotide variant not specified [RCV004125522] Chr3:12156824 [GRCh38]
Chr3:12198324 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1670C>G (p.Ser557Cys) single nucleotide variant not specified [RCV004208109] Chr3:12190546 [GRCh38]
Chr3:12232046 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1363C>A (p.Pro455Thr) single nucleotide variant not specified [RCV004110308] Chr3:12183366 [GRCh38]
Chr3:12224866 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.743A>G (p.Glu248Gly) single nucleotide variant not specified [RCV004217335] Chr3:12151295 [GRCh38]
Chr3:12192795 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.908C>T (p.Thr303Ile) single nucleotide variant not specified [RCV004086442] Chr3:12162082 [GRCh38]
Chr3:12203582 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.608T>C (p.Ile203Thr) single nucleotide variant not specified [RCV004098594] Chr3:12145759 [GRCh38]
Chr3:12187259 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.593T>C (p.Met198Thr) single nucleotide variant not specified [RCV004256305] Chr3:12153597 [GRCh38]
Chr3:12195097 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.383T>G (p.Ile128Ser) single nucleotide variant not specified [RCV004266537] Chr3:12154421 [GRCh38]
Chr3:12195921 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.433A>G (p.Arg145Gly) single nucleotide variant not specified [RCV004256387] Chr3:12154371 [GRCh38]
Chr3:12195871 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.122T>C (p.Ile41Thr) single nucleotide variant not specified [RCV004254641] Chr3:12158719 [GRCh38]
Chr3:12200219 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1481C>T (p.Ser494Phe) single nucleotide variant not specified [RCV004253318] Chr3:12187480 [GRCh38]
Chr3:12228980 [GRCh37]
Chr3:3p25.2		 likely benign
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1 copy number loss See cases [RCV003329496] Chr3:10167260..12533766 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_133625.6(SYN2):c.1502C>T (p.Pro501Leu) single nucleotide variant not specified [RCV004335517] Chr3:12187501 [GRCh38]
Chr3:12229001 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.71C>A (p.Pro24Gln) single nucleotide variant not specified [RCV004345274] Chr3:12158770 [GRCh38]
Chr3:12200270 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.131C>T (p.Ser44Leu) single nucleotide variant not specified [RCV004339457] Chr3:12158710 [GRCh38]
Chr3:12200210 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.721G>A (p.Gly241Arg) single nucleotide variant not specified [RCV004334639] Chr3:12151273 [GRCh38]
Chr3:12192773 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.439A>G (p.Ser147Gly) single nucleotide variant not specified [RCV004365207] Chr3:12154365 [GRCh38]
Chr3:12195865 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004350275] Chr3:12158744 [GRCh38]
Chr3:12200244 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.403G>A (p.Glu135Lys) single nucleotide variant not specified [RCV004339672] Chr3:12154401 [GRCh38]
Chr3:12195901 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_133625.6(SYN2):c.161C>T (p.Ala54Val) single nucleotide variant not provided [RCV003433445] Chr3:12004712 [GRCh38]
Chr3:12046186 [GRCh37]
Chr3:3p25.2		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_133625.6(SYN2):c.578C>T (p.Ala193Val) single nucleotide variant SYN2-related disorder [RCV003941424] Chr3:12145729 [GRCh38]
Chr3:12187229 [GRCh37]
Chr3:3p25.2		 benign
NM_133625.6(SYN2):c.1308+1G>A single nucleotide variant SYN2-related disorder [RCV003896493] Chr3:12169907 [GRCh38]
Chr3:12211407 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1370-4del deletion SYN2-related disorder [RCV003954394] Chr3:12187364 [GRCh38]
Chr3:12228864 [GRCh37]
Chr3:3p25.2		 likely benign
NM_133625.6(SYN2):c.1698A>G (p.Ala566=) single nucleotide variant SYN2-related disorder [RCV003974701] Chr3:12190574 [GRCh38]
Chr3:12232074 [GRCh37]
Chr3:3p25.2		 benign
NM_133625.6(SYN2):c.1620G>A (p.Ser540=) single nucleotide variant SYN2-related disorder [RCV003964154] Chr3:12190496 [GRCh38]
Chr3:12231996 [GRCh37]
Chr3:3p25.2		 benign
NM_133625.6(SYN2):c.383A>G (p.Lys128Arg) single nucleotide variant SYN2-related disorder [RCV003922245] Chr3:12140656 [GRCh38]
Chr3:12182156 [GRCh37]
Chr3:3p25.2		 benign
NM_133625.6(SYN2):c.789G>T (p.Thr263=) single nucleotide variant SYN2-related disorder [RCV003934152] Chr3:12161560 [GRCh38]
Chr3:12203060 [GRCh37]
Chr3:3p25.2		 likely benign
NM_133625.6(SYN2):c.1411G>T (p.Val471Leu) single nucleotide variant not specified [RCV004463569] Chr3:12187410 [GRCh38]
Chr3:12228910 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1639T>G (p.Phe547Val) single nucleotide variant not specified [RCV004463570] Chr3:12190515 [GRCh38]
Chr3:12232015 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.943C>T (p.Arg315Trp) single nucleotide variant not specified [RCV004463572] Chr3:12162117 [GRCh38]
Chr3:12203617 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.113A>G (p.Gln38Arg) single nucleotide variant not specified [RCV004469903] Chr3:12158728 [GRCh38]
Chr3:12200228 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.284C>T (p.Thr95Met) single nucleotide variant not specified [RCV004469904] Chr3:12156888 [GRCh38]
Chr3:12198388 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.491A>G (p.Tyr164Cys) single nucleotide variant not specified [RCV004469905] Chr3:12153699 [GRCh38]
Chr3:12195199 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.797T>G (p.Val266Gly) single nucleotide variant not specified [RCV004463571] Chr3:12161568 [GRCh38]
Chr3:12203068 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_003256.4(TIMP4):c.602T>C (p.Val201Ala) single nucleotide variant not specified [RCV004469906] Chr3:12153588 [GRCh38]
Chr3:12195088 [GRCh37]
Chr3:3p25.2		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_133625.6(SYN2):c.1047G>A (p.Met349Ile) single nucleotide variant not specified [RCV004463568] Chr3:12167300 [GRCh38]
Chr3:12208800 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1519C>G (p.His507Asp) single nucleotide variant not specified [RCV004670853] Chr3:12187518 [GRCh38]
Chr3:12229018 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.703A>G (p.Ile235Val) single nucleotide variant not specified [RCV004670850] Chr3:12151255 [GRCh38]
Chr3:12192755 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1126C>T (p.His376Tyr) single nucleotide variant not specified [RCV004670852] Chr3:12168446 [GRCh38]
Chr3:12209946 [GRCh37]
Chr3:3p25.2		 uncertain significance
NM_133625.6(SYN2):c.1355G>A (p.Arg452Gln) single nucleotide variant not specified [RCV004670851] Chr3:12183358 [GRCh38]
Chr3:12224858 [GRCh37]
Chr3:3p25.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1042
Count of miRNA genes:628
Interacting mature miRNAs:734
Transcripts:ENST00000424884, ENST00000425297, ENST00000426379, ENST00000432424, ENST00000439861, ENST00000447752
Prediction methods: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
407184453GWAS833429_Hhypothyroidism QTL GWAS833429 (human)8e-09hypothyroidism31205363012053631Human
407086274GWAS735250_Hglomerular filtration rate QTL GWAS735250 (human)1e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)31205363012053631Human
407069506GWAS718482_Hglomerular filtration rate QTL GWAS718482 (human)2e-14glomerular filtration rateglomerular filtration rate (CMO:0000490)31216717112167172Human
406944706GWAS593682_Hidiopathic osteonecrosis of the femoral head QTL GWAS593682 (human)3e-08idiopathic osteonecrosis of the femoral head31206518512065186Human
407162176GWAS811152_Hnecrotizing enterocolitis QTL GWAS811152 (human)0.000009necrotizing enterocolitis31201525512015256Human
407319117GWAS968093_Hglomerular filtration rate QTL GWAS968093 (human)5e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)31215996812159969Human
407097935GWAS746911_Hcholesteryl ester measurement QTL GWAS746911 (human)1e-11blood lipid amount (VT:0003949)31216498912164990Human
407338708GWAS987684_HBMI-adjusted waist-hip ratio QTL GWAS987684 (human)4e-13BMI-adjusted waist-hip ratio31218631912186320Human
407338707GWAS987683_HBMI-adjusted waist-hip ratio QTL GWAS987683 (human)4e-09BMI-adjusted waist-hip ratio31201842512018426Human
407086167GWAS735143_Hphospholipids:total lipids ratio QTL GWAS735143 (human)7e-10phospholipids:total lipids ratio31216498912164990Human
407296851GWAS945827_HTinnitus QTL GWAS945827 (human)2e-08Tinnitus31205732512057326Human
407338706GWAS987682_HBMI-adjusted waist-hip ratio QTL GWAS987682 (human)5e-16BMI-adjusted waist-hip ratio31208537712085378Human
406954324GWAS603300_Hhemoglobin measurement QTL GWAS603300 (human)0.000005hemoglobin measurementhemoglobin measurement (CMO:0000508)31211214612112147Human
407084374GWAS733350_Hphospholipids:total lipids ratio QTL GWAS733350 (human)3e-13phospholipids:total lipids ratio31216498912164990Human
407259345GWAS908321_Hskin pigmentation QTL GWAS908321 (human)0.0000005skin pigmentation trait (VT:0002095)31214846812148469Human
407175261GWAS824237_Hblood protein measurement QTL GWAS824237 (human)6e-48blood protein measurementblood protein measurement (CMO:0000028)31209324012093241Human
407342815GWAS991791_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS991791 (human)4e-13blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
407175260GWAS824236_Hblood protein measurement QTL GWAS824236 (human)4e-33blood protein measurementblood protein measurement (CMO:0000028)31214846812148469Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407167326GWAS816302_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS816302 (human)1e-10blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406965978GWAS614954_Hlevel of metalloproteinase inhibitor 4 in blood serum QTL GWAS614954 (human)4e-24level of metalloproteinase inhibitor 4 in blood serum31209945312099454Human
407197018GWAS845994_Hacne QTL GWAS845994 (human)1e-11acne31214846812148469Human
407297126GWAS946102_HTinnitus QTL GWAS946102 (human)3e-09Tinnitus31204364912043650Human
407185124GWAS834100_Hcreatinine measurement QTL GWAS834100 (human)6e-10creatinine measurementblood creatinine measurement (CMO:0000767)31206077312060774Human
406943200GWAS592176_Hchronic obstructive pulmonary disease QTL GWAS592176 (human)0.000003chronic obstructive pulmonary disease31211438812114389Human
407221734GWAS870710_HBMI-adjusted hip circumference QTL GWAS870710 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)31207051012070511Human
407317731GWAS966707_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS966707 (human)1e-12total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406965100GWAS614076_Hlevel of metalloproteinase inhibitor 4 in blood serum QTL GWAS614076 (human)4e-16level of metalloproteinase inhibitor 4 in blood serum31211438812114389Human
406921199GWAS570175_Htriglyceride measurement QTL GWAS570175 (human)2e-10triglyceride measurementblood triglyceride level (CMO:0000118)31209759212097593Human
407195381GWAS844357_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS844357 (human)9e-13cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
407197296GWAS846272_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS846272 (human)1e-08high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)31216498912164990Human
407036282GWAS685258_Hthyroid stimulating hormone measurement QTL GWAS685258 (human)1e-50thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)31205827612058277Human
407003898GWAS652874_Htriglyceride measurement QTL GWAS652874 (human)7e-11triglyceride measurementblood triglyceride level (CMO:0000118)31213215512132156Human
407026298GWAS675274_Hcholesterol to total lipids in large HDL percentage QTL GWAS675274 (human)7e-13cholesterol to total lipids in large HDL percentage 31216498912164990Human
407093243GWAS742219_Hfree cholesterol to total lipids in very large HDL percentage QTL GWAS742219 (human)4e-11free cholesterol to total lipids in very large HDL percentage 31216498912164990Human
407036283GWAS685259_Hthyroid stimulating hormone measurement QTL GWAS685259 (human)2e-58thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)31218893812188939Human
407036281GWAS685257_Hthyroid stimulating hormone measurement QTL GWAS685257 (human)8e-22thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)31205140312051428Human
407061631GWAS710607_Hbody mass index, fasting blood insulin measurement QTL GWAS710607 (human)0.0000002body mass index, fasting blood insulin measurementblood insulin level (CMO:0000349)31207512012075121Human
406943996GWAS592972_Hadolescent idiopathic scoliosis QTL GWAS592972 (human)7e-10adolescent idiopathic scoliosis31212321212123213Human
407156866GWAS805842_Hleptin measurement, type 2 diabetes mellitus QTL GWAS805842 (human)2e-08leptin measurement, type 2 diabetes mellitusblood leptin level (CMO:0000779)31214305712143058Human
407266560GWAS915536_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS915536 (human)2e-10total cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406942598GWAS591574_Hmetalloproteinase inhibitor 4 measurement QTL GWAS591574 (human)2e-80metalloproteinase inhibitor 4 measurement31211438812114389Human
407211273GWAS860249_Hnon-alcoholic fatty liver disease QTL GWAS860249 (human)4e-09non-alcoholic fatty liver disease31207051012070511Human
407310602GWAS959578_HBMI-adjusted waist circumference QTL GWAS959578 (human)5e-10BMI-adjusted waist circumference31211463812114639Human
407024658GWAS673634_Hcholesteryl esters to total lipids in large HDL percentage QTL GWAS673634 (human)2e-11cholesterol in large HDL measurement 31216498912164990Human
407258135GWAS907111_Hglomerular filtration rate QTL GWAS907111 (human)2e-16glomerular filtration rateglomerular filtration rate (CMO:0000490)31213614112136142Human
407090326GWAS739302_Hcreatinine measurement QTL GWAS739302 (human)7e-10creatinine measurementblood creatinine measurement (CMO:0000767)31205363012053631Human
407277584GWAS926560_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS926560 (human)2e-08phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406892825GWAS541801_Hmetalloproteinase inhibitor 4 measurement QTL GWAS541801 (human)2e-53metalloproteinase inhibitor 4 measurement31203551012035511Human
407165981GWAS814957_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS814957 (human)2e-09free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406892827GWAS541803_Hmetalloproteinase inhibitor 4 measurement QTL GWAS541803 (human)7e-23metalloproteinase inhibitor 4 measurement31205616912056170Human
407196057GWAS845033_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS845033 (human)5e-11phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406887200GWAS536176_Hheel bone mineral density QTL GWAS536176 (human)4e-09heel bone mineral densitybone mineral density (CMO:0001226)31201898412018985Human
407192231GWAS841207_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS841207 (human)9e-14phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
407061926GWAS710902_Hblood protein measurement QTL GWAS710902 (human)2e-33blood protein measurementblood protein measurement (CMO:0000028)31203361712033618Human
407090853GWAS739829_HX-24328 measurement QTL GWAS739829 (human)3e-11X-24328 measurement31202854412028545Human
407355169GWAS1004145_HBMI-adjusted waist circumference QTL GWAS1004145 (human)9e-11BMI-adjusted waist circumference31211463812114639Human
407354401GWAS1003377_HBMI-adjusted hip circumference QTL GWAS1003377 (human)6e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)31218631912186320Human
407354400GWAS1003376_HBMI-adjusted hip circumference QTL GWAS1003376 (human)5e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)31206874712068748Human
407351087GWAS1000063_HBMI-adjusted waist-hip ratio QTL GWAS1000063 (human)2e-13BMI-adjusted waist-hip ratio31218631912186320Human
407351086GWAS1000062_HBMI-adjusted waist-hip ratio QTL GWAS1000062 (human)3e-09BMI-adjusted waist-hip ratio31201842512018426Human
407351085GWAS1000061_HBMI-adjusted waist-hip ratio QTL GWAS1000061 (human)4e-16BMI-adjusted waist-hip ratio31208537712085378Human
407260200GWAS909176_Hskin pigmentation QTL GWAS909176 (human)3e-14skin pigmentation trait (VT:0002095)31214846812148469Human
407166506GWAS815482_Hhigh density lipoprotein cholesterol measurement QTL GWAS815482 (human)4e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
407318824GWAS967800_HX-24328 measurement QTL GWAS967800 (human)3e-11X-24328 measurement31214846812148469Human
407046578GWAS695554_Hplatelet count QTL GWAS695554 (human)7e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)31218973412189735Human
407064496GWAS713472_Hgalanin peptides measurement QTL GWAS713472 (human)4e-21galanin peptides measurement31208632712086328Human
406914098GWAS563074_Hthyroid stimulating hormone measurement QTL GWAS563074 (human)6e-09thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)31218920412189205Human
407255986GWAS904962_Hglomerular filtration rate QTL GWAS904962 (human)2e-14glomerular filtration rateglomerular filtration rate (CMO:0000490)31216749512167496Human
406952504GWAS601480_Hproactivator polypeptide-like 1 measurement QTL GWAS601480 (human)6e-14proactivator polypeptide-like 1 measurement31202562612025627Human
407345470GWAS994446_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS994446 (human)7e-12lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31216498912164990Human
406902330GWAS551306_Hhigh density lipoprotein cholesterol measurement QTL GWAS551306 (human)0.000001high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)31217992412179925Human
406987961GWAS636937_Hneuroticism measurement QTL GWAS636937 (human)3e-08wellbeing measurement31218920412189205Human
406942526GWAS591502_Hmetalloproteinase inhibitor 4 measurement QTL GWAS591502 (human)3e-179metalloproteinase inhibitor 4 measurement31209324012093241Human

Markers in Region
D3S1259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,098,729 - 12,098,924UniSTSGRCh37
Build 36312,073,729 - 12,073,924RGDNCBI36
Celera312,035,869 - 12,036,068RGD
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map19q13.42-q13.43UniSTS
HuRef312,031,944 - 12,032,143UniSTS
Marshfield Genetic Map336.65UniSTS
Marshfield Genetic Map336.65RGD
Genethon Genetic Map330.9UniSTS
TNG Radiation Hybrid Map37648.0UniSTS
GeneMap99-GB4 RH Map352.59UniSTS
Whitehead-RH Map358.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3163.0UniSTS
RH66385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,226,942 - 12,227,115UniSTSGRCh37
Build 36312,201,942 - 12,202,115RGDNCBI36
Celera312,164,362 - 12,164,535RGD
Cytogenetic Map3p25UniSTS
HuRef312,160,688 - 12,160,861UniSTS
GeneMap99-GB4 RH Map352.69UniSTS
SHGC-76712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,194,576 - 12,194,745UniSTSGRCh37
Build 36312,169,576 - 12,169,745RGDNCBI36
Celera312,132,051 - 12,132,220RGD
Cytogenetic Map3p25UniSTS
HuRef312,128,382 - 12,128,551UniSTS
TNG Radiation Hybrid Map37601.0UniSTS
GeneMap99-GB4 RH Map354.92UniSTS
RH99325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,232,585 - 12,232,735UniSTSGRCh37
Build 36312,207,585 - 12,207,735RGDNCBI36
Celera312,170,002 - 12,170,152RGD
Cytogenetic Map3p25UniSTS
HuRef312,166,327 - 12,166,477UniSTS
GeneMap99-GB4 RH Map354.92UniSTS
RH80633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,226,957 - 12,227,205UniSTSGRCh37
Build 36312,201,957 - 12,202,205RGDNCBI36
Celera312,164,377 - 12,164,625RGD
Cytogenetic Map3p25UniSTS
HuRef312,160,703 - 12,160,951UniSTS
GeneMap99-GB4 RH Map355.5UniSTS
SHGC-79283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,082,591 - 12,082,925UniSTSGRCh37
Build 36312,057,591 - 12,057,925RGDNCBI36
Celera312,019,710 - 12,020,044RGD
Cytogenetic Map3p25UniSTS
HuRef312,015,791 - 12,016,125UniSTS
TNG Radiation Hybrid Map37667.0UniSTS
SHGC-84455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,096,005 - 12,096,279UniSTSGRCh37
Build 36312,071,005 - 12,071,279RGDNCBI36
Celera312,033,142 - 12,033,417RGD
Cytogenetic Map3p25UniSTS
HuRef312,029,217 - 12,029,492UniSTS
TNG Radiation Hybrid Map37654.0UniSTS
D3S732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,219,836 - 12,220,094UniSTSGRCh37
Build 36312,194,836 - 12,195,094RGDNCBI36
Celera312,157,256 - 12,157,514RGD
Cytogenetic Map3p25UniSTS
HuRef312,153,584 - 12,153,842UniSTS
SHGC-14394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,092,809 - 12,093,018UniSTSGRCh37
Build 36312,067,809 - 12,068,018RGDNCBI36
Celera312,029,946 - 12,030,155RGD
Cytogenetic Map3p25UniSTS
HuRef312,026,030 - 12,026,230UniSTS
TIMP4_1491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,194,504 - 12,195,201UniSTSGRCh37
Build 36312,169,504 - 12,170,201RGDNCBI36
Celera312,131,979 - 12,132,676RGD
HuRef312,128,310 - 12,129,007UniSTS
SHGC-76716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,191,484 - 12,191,667UniSTSGRCh37
Build 36312,166,484 - 12,166,667RGDNCBI36
Celera312,128,959 - 12,129,142RGD
Cytogenetic Map3p25UniSTS
HuRef312,125,290 - 12,125,473UniSTS
TNG Radiation Hybrid Map37601.0UniSTS
GeneMap99-GB4 RH Map352.69UniSTS
Whitehead-RH Map358.6UniSTS
WI-19747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,226,877 - 12,227,143UniSTSGRCh37
Build 36312,201,877 - 12,202,143RGDNCBI36
Celera312,164,297 - 12,164,563RGD
Cytogenetic Map3p25UniSTS
HuRef312,160,623 - 12,160,889UniSTS
GeneMap99-GB4 RH Map352.69UniSTS
Whitehead-RH Map358.6UniSTS
NCBI RH Map3159.9UniSTS
SHGC-53473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,232,637 - 12,232,856UniSTSGRCh37
Build 36312,207,637 - 12,207,856RGDNCBI36
Celera312,170,054 - 12,170,273RGD
Cytogenetic Map3p25UniSTS
HuRef312,166,379 - 12,166,598UniSTS
TNG Radiation Hybrid Map37562.0UniSTS
SHGC-76710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,190,260 - 12,190,384UniSTSGRCh37
Build 36312,165,260 - 12,165,384RGDNCBI36
Celera312,127,735 - 12,127,859RGD
Cytogenetic Map3p25UniSTS
HuRef312,124,066 - 12,124,190UniSTS
GeneMap99-GB4 RH Map352.39UniSTS
Whitehead-RH Map358.6UniSTS
G16552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,207,879 - 12,208,044UniSTSGRCh37
Build 36312,182,879 - 12,183,044RGDNCBI36
Celera312,145,300 - 12,145,465RGD
Cytogenetic Map3p25UniSTS
HuRef312,141,630 - 12,141,795UniSTS
AF096867  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef312,158,819 - 12,158,932UniSTS


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
1204 2391 2788 2228 4874 1514 2071 4 437 1640 278 2218 6730 6158 41 3687 792 1687 1523 168

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01025208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE504293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY336790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000424884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,071,558 - 12,151,323 (+)Ensembl
Ensembl Acc Id: ENST00000425297   ⟹   ENSP00000480038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,161,545 - 12,185,377 (+)Ensembl
Ensembl Acc Id: ENST00000439861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,148,557 - 12,191,385 (+)Ensembl
Ensembl Acc Id: ENST00000447752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,158,649 - 12,168,421 (+)Ensembl
Ensembl Acc Id: ENST00000620175   ⟹   ENSP00000484916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,004,406 - 12,185,728 (+)Ensembl
Ensembl Acc Id: ENST00000621198   ⟹   ENSP00000480050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl312,004,388 - 12,192,032 (+)Ensembl
RefSeq Acc Id: NM_003178   ⟹   NP_003169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,004,388 - 12,185,727 (+)NCBI
GRCh37312,182,150 - 12,233,532 (+)NCBI
Build 36312,020,862 - 12,202,226 (+)NCBI Archive
HuRef311,979,136 - 12,167,274 (+)ENTREZGENE
CHM1_1311,995,601 - 12,177,500 (+)NCBI
T2T-CHM13v2.0312,002,345 - 12,183,965 (+)NCBI
Sequence:
RefSeq Acc Id: NM_133625   ⟹   NP_598328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,004,388 - 12,192,032 (+)NCBI
GRCh37312,182,150 - 12,233,532 (+)NCBI
Build 36312,020,862 - 12,208,532 (+)NCBI Archive
HuRef311,979,136 - 12,167,274 (+)ENTREZGENE
CHM1_1311,995,601 - 12,183,794 (+)NCBI
T2T-CHM13v2.0312,002,345 - 12,190,266 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713311   ⟹   XP_006713374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,004,388 - 12,180,001 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713312   ⟹   XP_006713375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,145,778 - 12,192,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713313   ⟹   XP_006713376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,148,476 - 12,192,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007087   ⟹   XP_016862576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,157,892 - 12,192,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054347643   ⟹   XP_054203618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0312,002,345 - 12,178,236 (+)NCBI
RefSeq Acc Id: XM_054347644   ⟹   XP_054203619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0312,144,199 - 12,190,266 (+)NCBI
RefSeq Acc Id: XM_054347645   ⟹   XP_054203620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0312,156,126 - 12,190,266 (+)NCBI
RefSeq Acc Id: XM_054347646   ⟹   XP_054203621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0312,146,461 - 12,190,266 (+)NCBI
RefSeq Acc Id: XM_054347647   ⟹   XP_054203622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0312,059,665 - 12,190,266 (+)NCBI
Protein Sequences
Protein RefSeqs NP_003169 (Get FASTA)   NCBI Sequence Viewer  
  NP_598328 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713374 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713375 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713376 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203622 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28368 (Get FASTA)   NCBI Sequence Viewer  
  AAC33789 (Get FASTA)   NCBI Sequence Viewer  
  AAC50718 (Get FASTA)   NCBI Sequence Viewer  
  AAH51307 (Get FASTA)   NCBI Sequence Viewer  
  BAD92325 (Get FASTA)   NCBI Sequence Viewer  
  BAG52325 (Get FASTA)   NCBI Sequence Viewer  
  BAG52870 (Get FASTA)   NCBI Sequence Viewer  
  BAG58374 (Get FASTA)   NCBI Sequence Viewer  
  CAA61949 (Get FASTA)   NCBI Sequence Viewer  
  EAW64117 (Get FASTA)   NCBI Sequence Viewer  
  EAW64118 (Get FASTA)   NCBI Sequence Viewer  
  EAW64119 (Get FASTA)   NCBI Sequence Viewer  
  EAW64120 (Get FASTA)   NCBI Sequence Viewer  
  EAW64121 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000480038.1
  ENSP00000480050
  ENSP00000480050.1
  ENSP00000484916
  ENSP00000484916.1
GenBank Protein Q92777 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_598328   ⟸   NM_133625
- Peptide Label: isoform IIa
- UniProtKB: Q92777 (UniProtKB/Swiss-Prot),   A0A087X2E3 (UniProtKB/Swiss-Prot),   A8MY98 (UniProtKB/Swiss-Prot),   A0A087WW96 (UniProtKB/TrEMBL),   Q86VA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003169   ⟸   NM_003178
- Peptide Label: isoform IIb
- UniProtKB: Q59GM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713374   ⟸   XM_006713311
- Peptide Label: isoform X1
- UniProtKB: Q59GM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713375   ⟸   XM_006713312
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006713376   ⟸   XM_006713313
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016862576   ⟸   XM_017007087
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000484916   ⟸   ENST00000620175
Ensembl Acc Id: ENSP00000480038   ⟸   ENST00000425297
Ensembl Acc Id: ENSP00000480050   ⟸   ENST00000621198
RefSeq Acc Id: XP_054203618   ⟸   XM_054347643
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203622   ⟸   XM_054347647
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203619   ⟸   XM_054347644
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203621   ⟸   XM_054347646
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203620   ⟸   XM_054347645
- Peptide Label: isoform X3
Protein Domains
Synapsin ATP-binding   Synapsin pre-ATP-grasp

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92777-F1-model_v2 AlphaFold Q92777 1-582 view protein structure

Promoters
RGD ID:6863598
Promoter ID:EPDNEW_H4964
Type:initiation region
Name:SYN2_1
Description:synapsin II
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38312,004,388 - 12,004,448EPDNEW
RGD ID:6801743
Promoter ID:HG_KWN:43777
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000339677
Position:
Human AssemblyChrPosition (strand)Source
Build 36312,175,076 - 12,175,576 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11495 AgrOrtholog
COSMIC SYN2 COSMIC
Ensembl Genes ENSG00000157152 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000425297.2 UniProtKB/TrEMBL
  ENST00000620175 ENTREZGENE
  ENST00000620175.4 UniProtKB/Swiss-Prot
  ENST00000621198 ENTREZGENE
  ENST00000621198.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1490.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-grasp fold, B domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157152 GTEx
HGNC ID HGNC:11495 ENTREZGENE
Human Proteome Map SYN2 Human Proteome Map
InterPro ATP_grasp_subdomain_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_ATP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_pre-ATP-grasp_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6854 ENTREZGENE
OMIM 600755 OMIM
PANTHER PTHR10841:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synapsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synapsin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36277 PharmGKB
PRINTS SYNAPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SYNAPSIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPSIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glutathione synthetase ATP-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WW91_HUMAN UniProtKB/TrEMBL
  A0A087WW96 ENTREZGENE
  A0A087X2E3 ENTREZGENE
  A8MY98 ENTREZGENE
  B3KRB3_HUMAN UniProtKB/TrEMBL
  Q15530_HUMAN UniProtKB/TrEMBL
  Q59GM1 ENTREZGENE, UniProtKB/TrEMBL
  Q86VA8 ENTREZGENE, UniProtKB/TrEMBL
  Q92777 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A087WW96 UniProtKB/Swiss-Prot
  A0A087X2E3 UniProtKB/Swiss-Prot
  A8MY98 UniProtKB/Swiss-Prot