MGAT3 (beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase) - Rat Genome Database

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Gene: MGAT3 (beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase) Homo sapiens
Analyze
Symbol: MGAT3
Name: beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase
RGD ID: 1343088
HGNC Page HGNC:7046
Description: Enables beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity. Involved in protein localization and regulation of cell migration. Predicted to be located in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ43371; GlcNAc-T III; GNT-III; GNT3; mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase; MGC141943; MGC142278; N-acetylglucosaminyltransferase III; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III
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
GRCh382239,457,012 - 39,492,194 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,457,012 - 39,492,194 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,853,017 - 39,888,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,183,271 - 38,218,145 (+)NCBINCBI36Build 36hg18NCBI36
Build 342238,177,824 - 38,209,939NCBI
Celera2223,655,378 - 23,690,243 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,847,758 - 22,852,697 (+)NCBIHuRef
CHM1_12239,812,132 - 39,846,938 (+)NCBICHM1_1
T2T-CHM13v2.02239,927,644 - 39,962,814 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3Humanadenylosuccinase lyase deficiency  IAGPRGD:151724114|RGD:1564475608554872ClinVar Annotator: match by term: Adenylosuccinate lyase deficiencyClinVarPMID:28492532
MGAT3HumanRubinstein-Taybi syndrome  IAGPRGD:4058742998554872ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2ClinVarPMID:28492532

1 to 20 of 68 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3Human(R,R,R)-alpha-tocopherol increases expressionISORGD:30846480464alpha-Tocopherol results in increased expression of MGAT3 mRNACTDPMID:16908007
MGAT3Human1,1-dichloroethene decreases expressionISORGD:7365106480464vinylidene chloride results in decreased expression of MGAT3 mRNACTDPMID:26682919
MGAT3Human1,2-dimethylhydrazine decreases expressionISORGD:73651064804641,2-Dimethylhydrazine results in decreased expression of MGAT3 mRNACTDPMID:22206623
MGAT3Human17alpha-ethynylestradiol increases expressionISORGD:30846480464Ethinyl Estradiol results in increased expression of MGAT3 mRNACTDPMID:29097150
MGAT3Human17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of MGAT3 mRNACTDPMID:25321415|PMID:31614463|PMID:36828454
MGAT3Human17beta-estradiol multiple interactionsEXP 6480464[Estradiol binds to ESR2 protein] which results in increased expression of MGAT3 mRNACTDPMID:20404318
MGAT3Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:7365106480464Tetrachlorodibenzodioxin affects the expression of MGAT3 mRNACTDPMID:24680724
MGAT3Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:30846480464Tetrachlorodibenzodioxin results in decreased expression of MGAT3 mRNACTDPMID:33387578
MGAT3Human2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionISORGD:73651064804642,2',4,4',5-brominated diphenyl ether affects the expression of MGAT3 mRNACTDPMID:38648751
MGAT3Human3,3',4,4',5-pentachlorobiphenyl decreases expressionISORGD:308464804643,4,5,3',4'-pentachlorobiphenyl results in decreased expression of MGAT3 mRNACTDPMID:23196670
MGAT3Human3,3',5,5'-tetrabromobisphenol A decreases expressionISORGD:7365106480464tetrabromobisphenol A results in decreased expression of MGAT3 mRNACTDPMID:25172293
MGAT3Human4,4'-diaminodiphenylmethane decreases expressionISORGD:73651064804644,4'-diaminodiphenylmethane results in decreased expression of MGAT3 mRNACTDPMID:18648102
MGAT3Human4,4'-sulfonyldiphenol affects methylationISORGD:7365106480464bisphenol S affects the methylation of MGAT3 geneCTDPMID:31683443
MGAT3Human5-aza-2'-deoxycytidine affects expressionEXP 6480464Decitabine affects the expression of MGAT3 mRNACTDPMID:23300844
MGAT3Humanacrylamide decreases expressionISORGD:30846480464Acrylamide results in decreased expression of MGAT3 mRNACTDPMID:28959563
MGAT3Humanaflatoxin B1 increases methylationEXP 6480464Aflatoxin B1 results in increased methylation of MGAT3 3' UTR; Aflatoxin B1 results in increased more ...CTDPMID:27153756|PMID:30157460
MGAT3Humanaflatoxin B1 decreases methylationEXP 6480464Aflatoxin B1 results in decreased methylation of MGAT3 intronCTDPMID:30157460
MGAT3Humanammonium chloride affects expressionISORGD:30846480464Ammonium Chloride affects the expression of MGAT3 mRNACTDPMID:16483693
MGAT3Humanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of MGAT3 3' UTR; Benzo(a)pyrene affects the methylation of MGAT3 5' more ...CTDPMID:27901495|PMID:30157460
MGAT3Humanbis(2-chloroethyl) sulfide increases expressionISORGD:7365106480464Mustard Gas results in increased expression of MGAT3 mRNACTDPMID:15674844

1 to 20 of 68 rows

Biological Process
1 to 13 of 13 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3Humanamyloid-beta metabolic process acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humancellular response to oxidative stress acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humancognition acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humanlysosomal protein catabolic process acts_upstream_ofISOMGI:18578309068941 PMID:25592972, PMID:26467158MGIPMID:25592972|PMID:26467158
MGAT3HumanN-acetylglucosamine metabolic process involved_inIBAMGI:104532|PANTHER:PTN000259777150520179 GO_CentralGO_REF:0000033
MGAT3HumanN-acetylglucosamine metabolic process acts_upstream_of_or_withinISORGD:7365109068941 PMID:24619415MGIPMID:24619415
MGAT3Humannegative regulation of lysosomal protein catabolic process acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humanpositive regulation of protein localization to early endosome acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humanprotein glycosylation involved_inIEAUniPathway:UPA00378150520179 UniProtGO_REF:0000041
MGAT3Humanprotein localization involved_inIMP 150520179 PMID:19403558UniProtPMID:19403558
MGAT3Humanprotein localization to early endosome acts_upstream_ofISOMGI:18578309068941 PMID:25592972MGIPMID:25592972
MGAT3Humanprotein N-linked glycosylation acts_upstream_of_or_withinISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humanregulation of cell migration involved_inIDA 150520179 PMID:26801611UniProtPMID:26801611
1 to 13 of 13 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3HumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
MGAT3HumanGolgi membrane located_inTAS 150520179 ReactomeReactome:R-HSA-975926
MGAT3HumanGolgi membrane located_inIEAUniProtKB-SubCell:SL-0134150520179 UniProtGO_REF:0000044
MGAT3Humanmembrane located_inIEAInterPro:IPR006813150520179 InterProGO_REF:0000002
MGAT3Humanmembrane located_inTAS 150520179 PMID:8370666PINCPMID:8370666
MGAT3Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043

Molecular Function
1 to 10 of 10 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesIMP 150520179 PMID:19403558UniProtPMID:19403558
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesIEARHEA:15509150520179 RHEAGO_REF:0000116
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesTAS 150520179 ReactomeReactome:R-HSA-975926
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesISSUniProtKB:Q10470150520179 UniProtGO_REF:0000024
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesIEAEC:2.4.1.144150520179 UniProtGO_REF:0000003
MGAT3Humanbeta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity enablesIEAInterPro:IPR006813150520179 InterProGO_REF:0000002
MGAT3Humanglycosyltransferase activity enablesIEAUniProtKB-KW:KW-0328150520179 UniProtGO_REF:0000043
MGAT3Humanglycosyltransferase activity enablesIBAMGI:104532|PANTHER:PTN000259777|UniProtKB:Q09327150520179 GO_CentralGO_REF:0000033
MGAT3Humanprotein binding enablesIPIUniProtKB:Q9BSL1150520179 PMID:32296183IntActPMID:32296183
MGAT3Humantransferase activity enablesIEAUniProtKB-KW:KW-0808150520179 UniProtGO_REF:0000043
1 to 10 of 10 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3HumanN-linked glycan biosynthetic pathway  IEA 6907045 KEGGhsa:00510

Imported Annotations - PID (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MGAT3HumanE-cadherin signaling pathway  EXP 6484113 PIDPID:200182

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:8370666   PMID:8666260   PMID:8706690   PMID:8889548   PMID:10591208   PMID:11011143   PMID:11768033   PMID:12427758   PMID:12477932   PMID:12716887   PMID:14623284   PMID:14998999  
PMID:15461802   PMID:15489334   PMID:16344560   PMID:17652175   PMID:19276077   PMID:19403558   PMID:19776078   PMID:20089585   PMID:21368380   PMID:21873635   PMID:22268729   PMID:22451656  
PMID:23382691   PMID:23671930   PMID:24726881   PMID:25936519   PMID:26098720   PMID:26109616   PMID:26801611   PMID:27073020   PMID:27184406   PMID:27429195   PMID:28842505   PMID:29466889  
PMID:29642803   PMID:29991969   PMID:32296183   PMID:32393512   PMID:33200553   PMID:35166206  



MGAT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382239,457,012 - 39,492,194 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2239,457,012 - 39,492,194 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,853,017 - 39,888,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,183,271 - 38,218,145 (+)NCBINCBI36Build 36hg18NCBI36
Build 342238,177,824 - 38,209,939NCBI
Celera2223,655,378 - 23,690,243 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2222,847,758 - 22,852,697 (+)NCBIHuRef
CHM1_12239,812,132 - 39,846,938 (+)NCBICHM1_1
T2T-CHM13v2.02239,927,644 - 39,962,814 (+)NCBIT2T-CHM13v2.0
Mgat3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391580,057,852 - 80,099,720 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1580,057,922 - 80,099,720 (+)EnsemblGRCm39 Ensembl
GRCm381580,173,651 - 80,215,519 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1580,173,721 - 80,215,519 (+)EnsemblGRCm38mm10GRCm38
MGSCv371580,004,151 - 80,045,949 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361580,001,066 - 80,042,774 (+)NCBIMGSCv36mm8
Celera1582,329,172 - 82,333,729 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.85NCBI
Mgat3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87113,614,011 - 113,640,201 (+)NCBIGRCr8
mRatBN7.27111,708,353 - 111,761,825 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7111,675,730 - 111,762,026 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7113,488,109 - 113,514,341 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07115,711,653 - 115,737,884 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07115,681,009 - 115,707,241 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07121,394,541 - 121,436,935 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7121,408,829 - 121,435,022 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07121,375,145 - 121,426,932 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47118,429,750 - 118,457,125 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17118,463,979 - 118,491,351 (+)NCBI
Celera7108,062,223 - 108,088,293 (+)NCBICelera
Cytogenetic Map7q34NCBI
Mgat3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541325,360,806 - 25,367,782 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541325,346,135 - 25,367,782 (+)NCBIChiLan1.0ChiLan1.0
MGAT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22349,304,610 - 49,339,435 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12251,995,998 - 52,030,835 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02220,363,244 - 20,398,471 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12238,194,445 - 38,218,881 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2238,214,029 - 38,215,630 (+)Ensemblpanpan1.1panPan2
MGAT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11025,564,825 - 25,605,787 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1025,568,053 - 25,570,413 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1025,500,650 - 25,547,893 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01026,316,509 - 26,363,783 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11026,031,065 - 26,078,462 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01026,350,607 - 26,397,843 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01026,526,372 - 26,573,605 (-)NCBIUU_Cfam_GSD_1.0
Mgat3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,134,358 - 9,177,078 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,144,732 - 2,186,871 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,144,775 - 2,149,344 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MGAT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl58,777,965 - 8,807,100 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.158,777,964 - 8,807,144 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,080,556 - 6,092,563 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MGAT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11922,019,351 - 22,065,551 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1922,060,736 - 22,062,337 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045103,587,311 - 103,624,054 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mgat3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247528,859,596 - 8,891,440 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247528,859,809 - 8,891,344 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in MGAT3
43 total Variants

1 to 10 of 62 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_002409.4(MGAT3):c.-1370T>C single nucleotide variant Lung cancer [RCV000102066] Chr22:39456189 [GRCh38]
Chr22:39852194 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_002409.5(MGAT3):c.1567C>T (p.Pro523Ser) single nucleotide variant not specified [RCV004296448] Chr22:39488914 [GRCh38]
Chr22:39884919 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
1 to 10 of 62 rows

Predicted Target Of
Summary Value
Count of predictions:2339
Count of miRNA genes:1031
Interacting mature miRNAs:1257
Transcripts:ENST00000341184, ENST00000418314, ENST00000429402
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


1 to 10 of 42 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597020884GWAS1116958_Hforced expiratory volume, response to bronchodilator QTL GWAS1116958 (human)0.000002serum IgG glycosylation measurementforced expiratory volume (CMO:0000254)223946316439463165Human
597062871GWAS1158945_HIgG digalactosylation measurement QTL GWAS1158945 (human)3e-13blood immunoglobulin G amount (VT:0001805)223946316439463165Human
407023424GWAS672400_Hserum IgG glycosylation measurement QTL GWAS672400 (human)5e-10serum IgG glycosylation measurement223946316439463165Human
597062869GWAS1158943_HIgG disialylation measurement QTL GWAS1158943 (human)4e-14blood immunoglobulin G amount (VT:0001805)223946316439463165Human
597020886GWAS1116960_Hforced expiratory volume, response to bronchodilator QTL GWAS1116960 (human)0.0000001forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223946458439464585Human
597020881GWAS1116955_Hforced expiratory volume, response to bronchodilator QTL GWAS1116955 (human)0.000001forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223946486339464864Human
597062867GWAS1158941_HIgG monogalactosylation measurement QTL GWAS1158941 (human)0.000001blood immunoglobulin G amount (VT:0001805)223946316439463165Human
597171165GWAS1267239_Hcerebellin-1 measurement QTL GWAS1267239 (human)2e-23cerebellin-1 measurement223947612239476123Human
597070736GWAS1166810_HIgG sialylation measurement QTL GWAS1166810 (human)1e-13blood immunoglobulin G amount (VT:0001805)223946316439463165Human
597020883GWAS1116957_Hforced expiratory volume, response to bronchodilator QTL GWAS1116957 (human)0.000003forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223946412539464126Human

1 to 10 of 42 rows
RH80746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,884,969 - 39,885,205UniSTSGRCh37
Build 362238,214,915 - 38,215,151RGDNCBI36
Celera2223,687,013 - 23,687,249RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,849,498 - 22,849,734UniSTS
GeneMap99-GB4 RH Map22134.91UniSTS
RH121145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,870,670 - 39,870,986UniSTSGRCh37
Build 362238,200,616 - 38,200,932RGDNCBI36
Celera2223,672,717 - 23,673,033RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,835,236 - 22,835,552UniSTS
SHGC-144567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,869,989 - 39,870,289UniSTSGRCh37
Build 362238,199,935 - 38,200,235RGDNCBI36
Celera2223,672,036 - 23,672,336RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,834,555 - 22,834,855UniSTS
RH78550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,887,998 - 39,888,140UniSTSGRCh37
Build 362238,217,944 - 38,218,086RGDNCBI36
Celera2223,690,042 - 23,690,184RGD
Cytogenetic Map22q13.1UniSTS
HuRef2222,852,496 - 22,852,638UniSTS
GeneMap99-GB4 RH Map22134.91UniSTS
G38154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12UniSTS
Cytogenetic Map3q26.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1UniSTS




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
1204 2427 2788 2245 4907 1687 2279 5 591 1920 434 2248 7208 6425 46 3692 833 1720 1577 170 1


1 to 23 of 23 rows
RefSeq Transcripts NM_001098270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK125361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG683192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM675328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA261678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA370485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA519457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 23 of 23 rows

Ensembl Acc Id: ENST00000341184   ⟹   ENSP00000345270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,457,012 - 39,492,194 (+)Ensembl
Ensembl Acc Id: ENST00000418314   ⟹   ENSP00000408075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,477,513 - 39,487,588 (+)Ensembl
Ensembl Acc Id: ENST00000429402   ⟹   ENSP00000416226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2239,472,788 - 39,487,830 (+)Ensembl
RefSeq Acc Id: NM_001098270   ⟹   NP_001091740
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,487,224 - 39,492,194 (+)NCBI
GRCh372239,843,235 - 39,888,199 (+)NCBI
Build 362238,213,175 - 38,218,145 (+)NCBI Archive
HuRef2222,847,758 - 22,852,697 (+)ENTREZGENE
CHM1_12239,841,968 - 39,846,938 (+)NCBI
T2T-CHM13v2.02239,957,844 - 39,962,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002409   ⟹   NP_002400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,457,012 - 39,492,194 (+)NCBI
GRCh372239,843,235 - 39,888,199 (+)NCBI
Build 362238,183,271 - 38,218,145 (+)NCBI Archive
HuRef2222,847,758 - 22,852,697 (+)ENTREZGENE
CHM1_12239,812,132 - 39,846,938 (+)NCBI
T2T-CHM13v2.02239,927,644 - 39,962,814 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001091740   ⟸   NM_001098270
- UniProtKB: Q6IC49 (UniProtKB/Swiss-Prot),   Q14CK5 (UniProtKB/Swiss-Prot),   A6NGD0 (UniProtKB/Swiss-Prot),   Q9UH32 (UniProtKB/Swiss-Prot),   Q09327 (UniProtKB/Swiss-Prot),   B2R969 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002400   ⟸   NM_002409
- UniProtKB: Q6IC49 (UniProtKB/Swiss-Prot),   Q14CK5 (UniProtKB/Swiss-Prot),   A6NGD0 (UniProtKB/Swiss-Prot),   Q9UH32 (UniProtKB/Swiss-Prot),   Q09327 (UniProtKB/Swiss-Prot),   B2R969 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416226   ⟸   ENST00000429402
Ensembl Acc Id: ENSP00000408075   ⟸   ENST00000418314
Ensembl Acc Id: ENSP00000345270   ⟸   ENST00000341184

Name Modeler Protein Id AA Range Protein Structure
AF-Q09327-F1-model_v2 AlphaFold Q09327 1-533 view protein structure

RGD ID:6800133
Promoter ID:HG_KWN:42886
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_002409
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,182,761 - 38,183,602 (+)MPROMDB
RGD ID:6800135
Promoter ID:HG_KWN:42887
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000321340
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,198,574 - 38,199,074 (+)MPROMDB
RGD ID:6812249
Promoter ID:HG_ACW:52103
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:MGAT3.AAPR07-UNSPLICED,   YARURA.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,213,301 - 38,214,877 (+)MPROMDB
RGD ID:13604160
Promoter ID:EPDNEW_H28264
Type:initiation region
Name:MGAT3_1
Description:mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28265  EPDNEW_H28266  EPDNEW_H28267  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,447,191 - 39,447,251EPDNEW
RGD ID:13604162
Promoter ID:EPDNEW_H28265
Type:initiation region
Name:MGAT3_3
Description:mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28264  EPDNEW_H28266  EPDNEW_H28267  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,454,547 - 39,454,607EPDNEW
RGD ID:13604164
Promoter ID:EPDNEW_H28266
Type:initiation region
Name:MGAT3_2
Description:mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28264  EPDNEW_H28265  EPDNEW_H28267  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,457,419 - 39,457,479EPDNEW
RGD ID:13604166
Promoter ID:EPDNEW_H28267
Type:initiation region
Name:MGAT3_4
Description:mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28264  EPDNEW_H28265  EPDNEW_H28266  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,472,763 - 39,472,823EPDNEW


1 to 27 of 27 rows
Database
Acc Id
Source(s)
COSMIC MGAT3 COSMIC
Ensembl Genes ENSG00000128268 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000341184 ENTREZGENE
  ENST00000341184.7 UniProtKB/Swiss-Prot
GTEx ENSG00000128268 GTEx
HGNC ID HGNC:7046 ENTREZGENE
Human Proteome Map MGAT3 Human Proteome Map
InterPro Glyco_trans_17 UniProtKB/Swiss-Prot
KEGG Report hsa:4248 UniProtKB/Swiss-Prot
NCBI Gene 4248 ENTREZGENE
OMIM 604621 OMIM
PANTHER BETA-1,4-MANNOSYL-GLYCOPROTEIN 4-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot
  PTHR12224 UniProtKB/Swiss-Prot
Pfam Glyco_transf_17 UniProtKB/Swiss-Prot
PharmGKB PA30781 PharmGKB
UniProt A6NGD0 ENTREZGENE
  B0QY92_HUMAN UniProtKB/TrEMBL
  B0QY93_HUMAN UniProtKB/TrEMBL
  B2R969 ENTREZGENE, UniProtKB/TrEMBL
  MGAT3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14CK5 ENTREZGENE
  Q6IC49 ENTREZGENE
  Q9UH32 ENTREZGENE
UniProt Secondary A6NGD0 UniProtKB/Swiss-Prot
  Q14CK5 UniProtKB/Swiss-Prot
  Q6IC49 UniProtKB/Swiss-Prot
  Q9UH32 UniProtKB/Swiss-Prot
1 to 27 of 27 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 MGAT3  beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase  MGAT3  mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase  Symbol and/or name change 5135510 APPROVED