MGAT5 (alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase) - Rat Genome Database

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Gene: MGAT5 (alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase) Homo sapiens
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Symbol: MGAT5
Name: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
RGD ID: 737363
HGNC Page HGNC:7049
Description: Enables alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity; manganese ion binding activity; and protein phosphatase inhibitor activity. Involved in positive regulation of cell migration; positive regulation of receptor signaling pathway via STAT; and protein N-linked glycosylation via asparagine. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase; alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V; DKFZp686B24166; FLJ31899; FLJ43217; glcNAc-T V; GNT-V; GNT-VA; mannoside acetylglucosaminyltransferase 5; mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase; MGAT5A; N-acetylglucosaminyl-transferase V; n-acetylglucosaminyltransferase v
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
GRCh382134,119,935 - 134,454,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,119,983 - 134,454,621 (+)EnsemblGRCh38hg38GRCh38
GRCh372134,877,506 - 135,212,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,728,300 - 134,922,938 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,842,899 - 135,040,200NCBI
Celera2128,724,443 - 128,919,142 (+)NCBICelera
Cytogenetic Map2q21.2-q21.3NCBI
HuRef2127,004,546 - 127,204,992 (+)NCBIHuRef
CHM1_12135,016,473 - 135,216,821 (+)NCBICHM1_1
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# 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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8292036   PMID:8619474   PMID:9110174   PMID:9235963   PMID:10395745   PMID:10580127   PMID:10700233   PMID:11864986   PMID:11872751   PMID:12477932   PMID:14702039   PMID:15014031  
PMID:15044007   PMID:15313475   PMID:15809094   PMID:16344560   PMID:16467879   PMID:16638859   PMID:16924681   PMID:17451637   PMID:17488527   PMID:17878270   PMID:17971775   PMID:18649738  
PMID:18845630   PMID:18931531   PMID:19225046   PMID:19236842   PMID:19403558   PMID:19787216   PMID:19846580   PMID:19910543   PMID:19911372   PMID:20089585   PMID:20117844   PMID:20468071  
PMID:20584650   PMID:21115203   PMID:21631992   PMID:21676538   PMID:21873635   PMID:21908519   PMID:22537550   PMID:22589738   PMID:22614033   PMID:22780953   PMID:23005037   PMID:23107376  
PMID:23351704   PMID:23357422   PMID:23376485   PMID:23533145   PMID:23563846   PMID:23671930   PMID:23811795   PMID:24334766   PMID:24399258   PMID:24726881   PMID:24846175   PMID:25395405  
PMID:25544563   PMID:25876794   PMID:25944901   PMID:26098720   PMID:26109616   PMID:26186194   PMID:26293457   PMID:26349781   PMID:26526581   PMID:26531171   PMID:26583147   PMID:26760037  
PMID:26821880   PMID:27334383   PMID:27965091   PMID:28514442   PMID:29117863   PMID:29507755   PMID:30140003   PMID:30143259   PMID:30274773   PMID:32352685   PMID:32890705   PMID:32945502  
PMID:33879098   PMID:33894774   PMID:33961781   PMID:35104505   PMID:35696571   PMID:36215168   PMID:36689079   PMID:37071682   PMID:38499842  


Genomics

Comparative Map Data
MGAT5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382134,119,935 - 134,454,621 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,119,983 - 134,454,621 (+)EnsemblGRCh38hg38GRCh38
GRCh372134,877,506 - 135,212,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,728,300 - 134,922,938 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,842,899 - 135,040,200NCBI
Celera2128,724,443 - 128,919,142 (+)NCBICelera
Cytogenetic Map2q21.2-q21.3NCBI
HuRef2127,004,546 - 127,204,992 (+)NCBIHuRef
CHM1_12135,016,473 - 135,216,821 (+)NCBICHM1_1
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBIT2T-CHM13v2.0
Mgat5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391127,132,450 - 127,413,760 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1127,132,752 - 127,416,073 (+)EnsemblGRCm39 Ensembl
GRCm381127,204,919 - 127,488,334 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1127,205,015 - 127,488,336 (+)EnsemblGRCm38mm10GRCm38
MGSCv371129,101,563 - 129,379,549 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361129,134,308 - 129,311,253 (+)NCBIMGSCv36mm8
Celera1129,854,899 - 130,132,451 (+)NCBICelera
Cytogenetic Map1E3NCBI
cM Map155.71NCBI
Mgat5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81341,228,327 - 41,516,462 (+)NCBIGRCr8
mRatBN7.21338,675,776 - 38,959,697 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1338,676,119 - 38,959,513 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1341,257,822 - 41,541,653 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01342,545,922 - 42,829,754 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01339,811,828 - 40,095,552 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01343,850,744 - 44,157,860 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1343,850,751 - 44,157,924 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01349,012,580 - 49,250,496 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41339,900,089 - 40,135,002 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11340,113,779 - 40,149,045 (+)NCBI
Celera1339,217,802 - 39,336,884 (+)NCBICelera
Cytogenetic Map13q12-q13NCBI
Mgat5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554401,786,874 - 1,999,281 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554401,705,018 - 2,004,838 (+)NCBIChiLan1.0ChiLan1.0
MGAT5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21340,463,767 - 40,793,973 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B40,478,737 - 40,808,944 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B25,394,435 - 25,724,420 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B138,284,310 - 138,544,621 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B138,344,539 - 138,538,857 (+)Ensemblpanpan1.1panPan2
MGAT5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11937,041,215 - 37,334,585 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1937,087,247 - 37,329,723 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1937,236,423 - 37,575,022 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01938,440,089 - 38,672,160 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11937,082,752 - 37,422,014 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01937,244,160 - 37,582,910 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01938,472,210 - 38,811,086 (+)NCBIUU_Cfam_GSD_1.0
Mgat5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530383,742,596 - 84,069,959 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646957,674,982 - 57,875,107 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646957,615,755 - 57,875,156 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MGAT5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1517,544,806 - 17,918,555 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11517,544,806 - 17,919,273 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21520,023,165 - 20,366,014 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MGAT5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11018,357,893 - 18,686,009 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1018,487,693 - 18,685,669 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660613,813,320 - 4,147,620 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mgat5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473233,605,569 - 33,898,834 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473233,564,740 - 33,896,573 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MGAT5
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002410.4(MGAT5):c.1677+724A>G single nucleotide variant Lung cancer [RCV000091389] Chr2:134413739 [GRCh38]
Chr2:135171310 [GRCh37]
Chr2:2q21.3		 uncertain significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
NM_002410.4(MGAT5):c.65G>A (p.Gly22Asp) single nucleotide variant Malignant melanoma [RCV000060322] Chr2:134254468 [GRCh38]
Chr2:135012039 [GRCh37]
Chr2:134728509 [NCBI36]
Chr2:2q21.2		 not provided
NM_002410.4(MGAT5):c.1803A>G (p.Pro601=) single nucleotide variant Malignant melanoma [RCV000065073] Chr2:134428373 [GRCh38]
Chr2:135185944 [GRCh37]
Chr2:134902414 [NCBI36]
Chr2:2q21.3		 not provided
NC_000002.12:g.134232779A>G single nucleotide variant Lung cancer [RCV000091388] Chr2:134232779 [GRCh38]
Chr2:134990350 [GRCh37]
Chr2:2q21.2		 uncertain significance
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q14.3-22.1(chr2:128490257-138210164)x1 copy number loss See cases [RCV000445892] Chr2:128490257..138210164 [GRCh37]
Chr2:2q14.3-22.1		 pathogenic
GRCh37/hg19 2q21.3(chr2:135159120-135275483)x3 copy number gain See cases [RCV000448059] Chr2:135159120..135275483 [GRCh37]
Chr2:2q21.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002410.5(MGAT5):c.850A>C (p.Lys284Gln) single nucleotide variant not specified [RCV004287848] Chr2:134341632 [GRCh38]
Chr2:135099203 [GRCh37]
Chr2:2q21.3		 uncertain significance
GRCh37/hg19 2q21.2-21.3(chr2:134965463-135340220)x3 copy number gain not provided [RCV001005319] Chr2:134965463..135340220 [GRCh37]
Chr2:2q21.2-21.3		 uncertain significance
GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1 copy number loss not provided [RCV000846930] Chr2:133457177..138188195 [GRCh37]
Chr2:2q21.2-22.1		 pathogenic
GRCh37/hg19 2q21.2-21.3(chr2:134363657-135605291)x3 copy number gain not provided [RCV000846792] Chr2:134363657..135605291 [GRCh37]
Chr2:2q21.2-21.3		 uncertain significance
NM_002410.5(MGAT5):c.760A>C (p.Lys254Gln) single nucleotide variant not specified [RCV004319155] Chr2:134338373 [GRCh38]
Chr2:135095944 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.1470C>T (p.Tyr490=) single nucleotide variant not provided [RCV000912654] Chr2:134403077 [GRCh38]
Chr2:135160648 [GRCh37]
Chr2:2q21.3		 likely benign
GRCh37/hg19 2q21.2-21.3(chr2:134061056-135209603)x1 copy number loss not provided [RCV001005318] Chr2:134061056..135209603 [GRCh37]
Chr2:2q21.2-21.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3		 pathogenic
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2		 pathogenic
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3		 pathogenic
NM_002410.5(MGAT5):c.671T>G (p.Ile224Ser) single nucleotide variant not specified [RCV004239853] Chr2:134338284 [GRCh38]
Chr2:135095855 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.649G>A (p.Glu217Lys) single nucleotide variant not specified [RCV004239451] Chr2:134338262 [GRCh38]
Chr2:135095833 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.1102G>C (p.Val368Leu) single nucleotide variant not specified [RCV004195273] Chr2:134345054 [GRCh38]
Chr2:135102625 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.7C>T (p.Leu3Phe) single nucleotide variant not specified [RCV004118167] Chr2:134254410 [GRCh38]
Chr2:135011981 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.442C>T (p.Pro148Ser) single nucleotide variant not specified [RCV004099928] Chr2:134317564 [GRCh38]
Chr2:135075135 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.361A>G (p.Thr121Ala) single nucleotide variant not specified [RCV004178238] Chr2:134270505 [GRCh38]
Chr2:135028076 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.964G>A (p.Ala322Thr) single nucleotide variant not specified [RCV004141912] Chr2:134341746 [GRCh38]
Chr2:135099317 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.749T>C (p.Ile250Thr) single nucleotide variant not specified [RCV004162688] Chr2:134338362 [GRCh38]
Chr2:135095933 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.2182G>C (p.Asp728His) single nucleotide variant not specified [RCV004241233] Chr2:134448803 [GRCh38]
Chr2:135206374 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.140G>A (p.Arg47His) single nucleotide variant not specified [RCV004214517] Chr2:134254543 [GRCh38]
Chr2:135012114 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.727C>T (p.Arg243Trp) single nucleotide variant not specified [RCV004337025] Chr2:134338340 [GRCh38]
Chr2:135095911 [GRCh37]
Chr2:2q21.3		 uncertain significance
GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3 copy number gain not specified [RCV003986337] Chr2:134589311..149951291 [GRCh37]
Chr2:2q21.2-23.2		 likely pathogenic
NM_002410.5(MGAT5):c.655C>T (p.Arg219Cys) single nucleotide variant not specified [RCV004417262] Chr2:134338268 [GRCh38]
Chr2:135095839 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.356C>T (p.Ser119Phe) single nucleotide variant not specified [RCV004417260] Chr2:134270500 [GRCh38]
Chr2:135028071 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.94T>C (p.Phe32Leu) single nucleotide variant not specified [RCV004417265] Chr2:134254497 [GRCh38]
Chr2:135012068 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.367G>A (p.Val123Ile) single nucleotide variant not specified [RCV004417261] Chr2:134270511 [GRCh38]
Chr2:135028082 [GRCh37]
Chr2:2q21.2		 uncertain significance
NM_002410.5(MGAT5):c.728G>A (p.Arg243Gln) single nucleotide variant not specified [RCV004417263] Chr2:134338341 [GRCh38]
Chr2:135095912 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.1698C>T (p.Tyr566=) single nucleotide variant not provided [RCV004546329] Chr2:134422823 [GRCh38]
Chr2:135180394 [GRCh37]
Chr2:2q21.3		 likely benign
NM_002410.5(MGAT5):c.1082A>G (p.Lys361Arg) single nucleotide variant not specified [RCV004645563] Chr2:134345034 [GRCh38]
Chr2:135102605 [GRCh37]
Chr2:2q21.3		 uncertain significance
NM_002410.5(MGAT5):c.27G>T (p.Leu9Phe) single nucleotide variant not specified [RCV004628845] Chr2:134254430 [GRCh38]
Chr2:135012001 [GRCh37]
Chr2:2q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3801
Count of miRNA genes:1295
Interacting mature miRNAs:1702
Transcripts:ENST00000281923, ENST00000409645, ENST00000468758, ENST00000481801, ENST00000488365
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
407217989GWAS866965_Hblood protein measurement QTL GWAS866965 (human)1e-156blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407103810GWAS752786_HFEV/FVC ratio, response to bronchodilator QTL GWAS752786 (human)0.000003FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)2134450700134450701Human
407229639GWAS878615_Hbone density QTL GWAS878615 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)2134198007134198008Human
407255749GWAS904725_Huromodulin measurement QTL GWAS904725 (human)9e-09uromodulin measurement2134135876134135877Human
407111235GWAS760211_Heosinophil count QTL GWAS760211 (human)5e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)2134233453134233454Human
407197132GWAS846108_Hblood protein measurement QTL GWAS846108 (human)1e-42blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407222476GWAS871452_Hblood protein measurement QTL GWAS871452 (human)1e-142blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407229640GWAS878616_Hbone density QTL GWAS878616 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)2134229487134229488Human
407083987GWAS732963_Halkaline phosphatase measurement QTL GWAS732963 (human)9e-11alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134247706134247707Human
407062998GWAS711974_Hprotein measurement QTL GWAS711974 (human)2e-24protein measurement2134206291134206292Human
406980062GWAS629038_Halkaline phosphatase measurement QTL GWAS629038 (human)2e-38alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134256507134256508Human
406921694GWAS570670_Hresponse to opioid QTL GWAS570670 (human)0.000004response to opioid2134159434134159435Human
406939233GWAS588209_Hvascular cell adhesion protein 1 measurement QTL GWAS588209 (human)2e-25vascular cell adhesion protein 1 measurement2134206291134206292Human
406956259GWAS605235_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS605235 (human)9e-15scavenger receptor cysteine-rich type 1 protein m130 measurement2134140976134140977Human
406939239GWAS588215_Hvascular cell adhesion protein 1 measurement QTL GWAS588215 (human)4e-34vascular cell adhesion protein 1 measurement2134208991134208992Human
407057764GWAS706740_Hsystemic lupus erythematosus QTL GWAS706740 (human)6e-10systemic lupus erythematosus2134293051134293052Human
407309551GWAS958527_Hlow density lipoprotein cholesterol measurement QTL GWAS958527 (human)3e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)2134256545134256546Human
407259119GWAS908095_Haspartate aminotransferase measurement QTL GWAS908095 (human)1e-09aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)2134208991134208992Human
406947311GWAS596287_Hmacrophage colony-stimulating factor 1 receptor measurement QTL GWAS596287 (human)5e-30macrophage colony-stimulating factor 1 receptor measurement2134208991134208992Human
407091315GWAS740291_Hblood protein measurement QTL GWAS740291 (human)8e-26blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407099634GWAS748610_Hprotein measurement QTL GWAS748610 (human)1e-08protein measurement2134254759134254760Human
407256820GWAS905796_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS905796 (human)3e-12scavenger receptor cysteine-rich type 1 protein m130 measurement2134282480134282481Human
407148790GWAS797766_Hsleep measurement QTL GWAS797766 (human)1e-11sleep measurement2134315189134315190Human
407087734GWAS736710_HN-glycan measurement QTL GWAS736710 (human)2e-10N-glycan measurement2134257776134257777Human
407340797GWAS989773_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS989773 (human)2e-23scavenger receptor cysteine-rich type 1 protein m130 measurement2134208991134208992Human
407203711GWAS852687_Hblood protein measurement QTL GWAS852687 (human)5e-387blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407239551GWAS888527_Halkaline phosphatase measurement QTL GWAS888527 (human)8e-13alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134259047134259048Human
406911483GWAS560459_Hmarginal zone B-cell lymphoma, systemic lupus erythematosus QTL GWAS560459 (human)3e-08marginal zone B-cell lymphoma, systemic lupus erythematosus2134305027134305028Human
406994942GWAS643918_Halkaline phosphatase measurement QTL GWAS643918 (human)1e-11alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134247706134247707Human
407086077GWAS735053_Hblood protein measurement QTL GWAS735053 (human)6e-25blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407203717GWAS852693_Hblood protein measurement QTL GWAS852693 (human)8e-393blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407087746GWAS736722_HN-glycan measurement QTL GWAS736722 (human)3e-09N-glycan measurement2134257776134257777Human
407128965GWAS777941_Hmultiple sclerosis QTL GWAS777941 (human)0.0000002multiple sclerosis2134311223134311224Human
406915461GWAS564437_Hsystemic lupus erythematosus QTL GWAS564437 (human)0.0000005systemic lupus erythematosus2134308905134308906Human
406892934GWAS541910_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS541910 (human)2e-30scavenger receptor cysteine-rich type 1 protein m130 measurement2134208991134208992Human
406892935GWAS541911_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS541911 (human)4e-28scavenger receptor cysteine-rich type 1 protein m130 measurement2134206321134206322Human
406956425GWAS605401_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS605401 (human)1e-114scavenger receptor cysteine-rich type 1 protein m130 measurement2134208991134208992Human
407202447GWAS851423_Hblood protein measurement QTL GWAS851423 (human)2e-371blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
406956426GWAS605402_Hscavenger receptor cysteine-rich type 1 protein m130 measurement QTL GWAS605402 (human)1e-59scavenger receptor cysteine-rich type 1 protein m130 measurement2134206291134206292Human
407280904GWAS929880_Halkaline phosphatase measurement QTL GWAS929880 (human)2e-39alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134256507134256508Human
407022354GWAS671330_Hprotein measurement QTL GWAS671330 (human)8e-16protein measurement2134296795134296796Human
407047446GWAS696422_HN-glycan measurement QTL GWAS696422 (human)3e-11N-glycan measurement2134256545134256546Human
407028757GWAS677733_Hsubcutaneous adipose tissue measurement QTL GWAS677733 (human)0.000007subcutaneous adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)2134385716134385717Human
407238301GWAS887277_Htransferrin glycosylation measurement QTL GWAS887277 (human)3e-20transferrin glycosylation measurement2134256507134256508Human
407238300GWAS887276_Htransferrin glycosylation measurement QTL GWAS887276 (human)2e-12transferrin glycosylation measurement2134125782134125783Human
407022360GWAS671336_Hprotein measurement QTL GWAS671336 (human)2e-20protein measurement2134208991134208992Human
407204255GWAS853231_Hblood protein measurement QTL GWAS853231 (human)9e-402blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407185694GWAS834670_Haspartate aminotransferase measurement QTL GWAS834670 (human)6e-10aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)2134208991134208992Human
407238565GWAS887541_Htransferrin glycosylation measurement QTL GWAS887541 (human)2e-19transferrin glycosylation measurement2134125782134125783Human
407238564GWAS887540_Htransferrin glycosylation measurement QTL GWAS887540 (human)3e-30transferrin glycosylation measurement2134257319134257320Human
407175591GWAS824567_Halkaline phosphatase measurement QTL GWAS824567 (human)7e-38alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2134256555134256556Human
407238566GWAS887542_Htransferrin glycosylation measurement QTL GWAS887542 (human)1e-32transferrin glycosylation measurement2134256507134256508Human
407202721GWAS851697_Hblood protein measurement QTL GWAS851697 (human)7e-27blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407238563GWAS887539_Htransferrin glycosylation measurement QTL GWAS887539 (human)4e-17transferrin glycosylation measurement2134125782134125783Human
406945191GWAS594167_Heosinophil percentage of leukocytes QTL GWAS594167 (human)4e-09eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)2134233453134233454Human
407238306GWAS887282_Htransferrin glycosylation measurement QTL GWAS887282 (human)1e-16transferrin glycosylation measurement2134256507134256508Human
407198764GWAS847740_Hblood protein measurement QTL GWAS847740 (human)9e-164blood protein measurementblood protein measurement (CMO:0000028)2134208991134208992Human
407229614GWAS878590_Hbone density QTL GWAS878590 (human)4e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)2134409338134409339Human
407065390GWAS714366_HST2 protein measurement QTL GWAS714366 (human)1e-14ST2 protein measurement2134256545134256546Human
406911410GWAS560386_Hsystemic lupus erythematosus, chronic lymphocytic leukemia QTL GWAS560386 (human)7e-09systemic lupus erythematosus, chronic lymphocytic leukemia2134305027134305028Human
406897203GWAS546179_Heducational attainment QTL GWAS546179 (human)2e-08educational attainment2134447481134447482Human
406947384GWAS596360_Hmacrophage colony-stimulating factor 1 receptor measurement QTL GWAS596360 (human)4e-12macrophage colony-stimulating factor 1 receptor measurement2134284804134284805Human
407172792GWAS821768_Hblood protein measurement QTL GWAS821768 (human)2e-34blood protein measurementblood protein measurement (CMO:0000028)2134159434134159435Human

Markers in Region
D2S368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,176,989 - 135,177,105UniSTSGRCh37
GRCh372135,176,993 - 135,177,224UniSTSGRCh37
Build 362134,893,463 - 134,893,694RGDNCBI36
Celera2128,889,669 - 128,889,900RGD
Celera2128,889,665 - 128,889,781UniSTS
Cytogenetic Map2q21.3UniSTS
HuRef2127,169,792 - 127,169,908UniSTS
HuRef2127,169,796 - 127,170,027UniSTS
Marshfield Genetic Map2144.52RGD
Genethon Genetic Map2148.5UniSTS
TNG Radiation Hybrid Map278018.0UniSTS
Stanford-G3 RH Map25510.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21034.2UniSTS
GeneMap99-G3 RH Map26423.0UniSTS
SHGC-63014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,201,468 - 135,201,597UniSTSGRCh37
Build 362134,917,938 - 134,918,067RGDNCBI36
Celera2128,914,142 - 128,914,271RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,194,268 - 127,194,397UniSTS
SHGC-79738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,188,937 - 135,189,272UniSTSGRCh37
Build 362134,905,407 - 134,905,742RGDNCBI36
Celera2128,901,614 - 128,901,949RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,181,734 - 127,182,069UniSTS
TNG Radiation Hybrid Map278021.0UniSTS
RH120427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,024,163 - 135,024,440UniSTSGRCh37
Build 362134,740,633 - 134,740,910RGDNCBI36
Celera2128,736,787 - 128,737,064RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,016,890 - 127,017,167UniSTS
TNG Radiation Hybrid Map277934.0UniSTS
RH121188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,041,095 - 135,041,367UniSTSGRCh37
Build 362134,757,565 - 134,757,837RGDNCBI36
Celera2128,753,719 - 128,753,990RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,033,818 - 127,034,089UniSTS
TNG Radiation Hybrid Map277942.0UniSTS
RH122043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,068,311 - 135,068,588UniSTSGRCh37
Build 362134,784,781 - 134,785,058RGDNCBI36
Celera2128,780,935 - 128,781,212RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,061,020 - 127,061,297UniSTS
TNG Radiation Hybrid Map277954.0UniSTS
RH123980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,201,088 - 135,201,387UniSTSGRCh37
Build 362134,917,558 - 134,917,857RGDNCBI36
Celera2128,913,762 - 128,914,061RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,193,888 - 127,194,187UniSTS
TNG Radiation Hybrid Map278028.0UniSTS
RH118945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,188,856 - 135,189,059UniSTSGRCh37
Build 362134,905,326 - 134,905,529RGDNCBI36
Celera2128,901,533 - 128,901,736RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,181,653 - 127,181,856UniSTS
TNG Radiation Hybrid Map278021.0UniSTS
D2S2122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,115,327 - 135,115,444UniSTSGRCh37
Build 362134,831,797 - 134,831,914RGDNCBI36
Celera2128,827,971 - 128,828,088RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,108,063 - 127,108,180UniSTS
SHGC-145545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,158,148 - 135,158,478UniSTSGRCh37
Build 362134,874,618 - 134,874,948RGDNCBI36
Celera2128,870,825 - 128,871,155RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,150,937 - 127,151,267UniSTS
TNG Radiation Hybrid Map277999.0UniSTS
RH68210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,206,294 - 135,206,416UniSTSGRCh37
Build 362134,922,764 - 134,922,886RGDNCBI36
Celera2128,918,968 - 128,919,090RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,199,094 - 127,199,216UniSTS
GeneMap99-GB4 RH Map2471.0UniSTS
D2S1625E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,211,942 - 135,212,070UniSTSGRCh37
Build 362134,928,412 - 134,928,540RGDNCBI36
Celera2128,924,614 - 128,924,742RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,204,742 - 127,204,870UniSTS
GeneMap99-GB4 RH Map2471.0UniSTS
D2S2507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,212,028 - 135,212,129UniSTSGRCh37
Build 362134,928,498 - 134,928,599RGDNCBI36
Celera2128,924,700 - 128,924,801RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,204,828 - 127,204,929UniSTS
GeneMap99-GB4 RH Map2471.0UniSTS
Whitehead-RH Map2774.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH41981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,209,037 - 135,209,172UniSTSGRCh37
Build 362134,925,507 - 134,925,642RGDNCBI36
Celera2128,921,709 - 128,921,844RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,201,837 - 127,201,972UniSTS
GeneMap99-GB4 RH Map2468.88UniSTS
A002K40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,211,886 - 135,212,155UniSTSGRCh37
Build 362134,928,356 - 134,928,625RGDNCBI36
Celera2128,924,558 - 128,924,827RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,204,686 - 127,204,955UniSTS
GeneMap99-GB4 RH Map2480.97UniSTS
Whitehead-RH Map2754.3UniSTS
RH36589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,048,154 - 135,048,364UniSTSGRCh37
Build 362134,764,624 - 134,764,834RGDNCBI36
Celera2128,760,777 - 128,760,987RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,040,877 - 127,041,087UniSTS
GeneMap99-GB4 RH Map2481.6UniSTS
D2S267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,176,738 - 135,177,119UniSTSGRCh37
Build 362134,893,208 - 134,893,589RGDNCBI36
Celera2128,889,414 - 128,889,795RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,169,541 - 127,169,922UniSTS
deCODE Assembly Map2148.61UniSTS
D2S1989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,211,904 - 135,212,158UniSTSGRCh37
Build 362134,928,374 - 134,928,628RGDNCBI36
Celera2128,924,576 - 128,924,830RGD
Cytogenetic Map2q21.3UniSTS
HuRef2127,204,704 - 127,204,958UniSTS
GeneMap99-GB4 RH Map2480.33UniSTS
Whitehead-RH Map2770.9UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,208,976 - 135,209,103UniSTSGRCh37
Build 362134,925,446 - 134,925,573RGDNCBI36
Celera2128,921,648 - 128,921,775RGD
Cytogenetic Map2q21.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S368  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.3UniSTS
Marshfield Genetic Map2144.52UniSTS
Genethon Genetic Map2148.5UniSTS
Whitehead-YAC Contig Map2 UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 6 624 1949 465 2269 7303 6469 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU191961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB223638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB237089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000281923   ⟹   ENSP00000281923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,254,072 - 134,454,621 (+)Ensembl
Ensembl Acc Id: ENST00000409645   ⟹   ENSP00000386377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,120,182 - 134,454,621 (+)Ensembl
Ensembl Acc Id: ENST00000468758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,119,983 - 134,254,644 (+)Ensembl
Ensembl Acc Id: ENST00000481801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,119,983 - 134,254,606 (+)Ensembl
Ensembl Acc Id: ENST00000488365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,253,104 - 134,254,514 (+)Ensembl
RefSeq Acc Id: NM_001371457   ⟹   NP_001358386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002410   ⟹   NP_002401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,254,072 - 134,454,621 (+)NCBI
GRCh372134,877,502 - 135,212,192 (+)NCBI
Build 362134,728,300 - 134,922,938 (+)NCBI Archive
HuRef2127,004,546 - 127,204,992 (+)NCBI
CHM1_12135,016,473 - 135,216,821 (+)NCBI
T2T-CHM13v2.02134,693,545 - 134,894,193 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263669   ⟹   XP_005263726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712534   ⟹   XP_006712597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511199   ⟹   XP_011509501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,249,249 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511201   ⟹   XP_011509503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,190,120 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511202   ⟹   XP_011509504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,254,072 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004147   ⟹   XP_016859636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004148   ⟹   XP_016859637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,143,807 - 134,454,621 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004149   ⟹   XP_016859638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,375,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444394   ⟹   XP_047300350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,250,052 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444395   ⟹   XP_047300351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444396   ⟹   XP_047300352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444397   ⟹   XP_047300353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444398   ⟹   XP_047300354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,250,053 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444399   ⟹   XP_047300355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444400   ⟹   XP_047300356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444401   ⟹   XP_047300357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444402   ⟹   XP_047300358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,143,807 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444403   ⟹   XP_047300359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,143,807 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444404   ⟹   XP_047300360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,143,807 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444405   ⟹   XP_047300361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,254,072 - 134,454,621 (+)NCBI
RefSeq Acc Id: XM_047444406   ⟹   XP_047300362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,375,397 (+)NCBI
RefSeq Acc Id: XM_054342108   ⟹   XP_054198083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342109   ⟹   XP_054198084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,689,525 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342110   ⟹   XP_054198085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342111   ⟹   XP_054198086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342112   ⟹   XP_054198087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342113   ⟹   XP_054198088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342114   ⟹   XP_054198089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,689,526 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342115   ⟹   XP_054198090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342116   ⟹   XP_054198091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342117   ⟹   XP_054198092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342118   ⟹   XP_054198093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342119   ⟹   XP_054198094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,686,992 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342120   ⟹   XP_054198095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,629,648 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342121   ⟹   XP_054198096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,616,709 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342122   ⟹   XP_054198097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,693,629 - 134,894,193 (+)NCBI
RefSeq Acc Id: XM_054342123   ⟹   XP_054198098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,826,622 (+)NCBI
RefSeq Acc Id: XM_054342124   ⟹   XP_054198099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02134,559,395 - 134,826,622 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001358386 (Get FASTA)   NCBI Sequence Viewer  
  NP_002401 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263726 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712597 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509501 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509503 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509504 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859636 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859637 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859638 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300350 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300351 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300352 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300353 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300354 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300355 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300356 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300357 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300358 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300359 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300360 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300361 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300362 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198098 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198099 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB81939 (Get FASTA)   NCBI Sequence Viewer  
  AAD22449 (Get FASTA)   NCBI Sequence Viewer  
  AAX93248 (Get FASTA)   NCBI Sequence Viewer  
  AAY14747 (Get FASTA)   NCBI Sequence Viewer  
  AAY14791 (Get FASTA)   NCBI Sequence Viewer  
  BAA04570 (Get FASTA)   NCBI Sequence Viewer  
  EAX11657 (Get FASTA)   NCBI Sequence Viewer  
  EAX11658 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000281923
  ENSP00000281923.2
  ENSP00000386377
  ENSP00000386377.1
GenBank Protein Q09328 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002401   ⟸   NM_002410
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263726   ⟸   XM_005263669
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712597   ⟸   XM_006712534
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509503   ⟸   XM_011511201
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509501   ⟸   XM_011511199
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509504   ⟸   XM_011511202
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859638   ⟸   XM_017004149
- Peptide Label: isoform X2
- UniProtKB: Q53SM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859636   ⟸   XM_017004147
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859637   ⟸   XM_017004148
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001358386   ⟸   NM_001371457
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000281923   ⟸   ENST00000281923
Ensembl Acc Id: ENSP00000386377   ⟸   ENST00000409645
RefSeq Acc Id: XP_047300353   ⟸   XM_047444397
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300356   ⟸   XM_047444400
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300351   ⟸   XM_047444395
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300357   ⟸   XM_047444401
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300355   ⟸   XM_047444399
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300352   ⟸   XM_047444396
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300362   ⟸   XM_047444406
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047300358   ⟸   XM_047444402
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300360   ⟸   XM_047444404
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300359   ⟸   XM_047444403
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300350   ⟸   XM_047444394
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300354   ⟸   XM_047444398
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047300361   ⟸   XM_047444405
- Peptide Label: isoform X1
- UniProtKB: Q09328 (UniProtKB/Swiss-Prot),   D3DP70 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198092   ⟸   XM_054342117
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198088   ⟸   XM_054342113
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198091   ⟸   XM_054342116
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198085   ⟸   XM_054342110
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198093   ⟸   XM_054342118
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198090   ⟸   XM_054342115
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198083   ⟸   XM_054342108
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198086   ⟸   XM_054342111
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198087   ⟸   XM_054342112
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198098   ⟸   XM_054342123
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198099   ⟸   XM_054342124
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198096   ⟸   XM_054342121
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198095   ⟸   XM_054342120
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198094   ⟸   XM_054342119
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198084   ⟸   XM_054342109
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198089   ⟸   XM_054342114
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054198097   ⟸   XM_054342122
- Peptide Label: isoform X1
- UniProtKB: D3DP70 (UniProtKB/Swiss-Prot),   Q09328 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q09328-F1-model_v2 AlphaFold Q09328 1-741 view protein structure

Promoters
RGD ID:6861620
Promoter ID:EPDNEW_H3975
Type:initiation region
Name:MGAT5_1
Description:mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3976  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,119,935 - 134,119,995EPDNEW
RGD ID:6861630
Promoter ID:EPDNEW_H3976
Type:initiation region
Name:MGAT5_2
Description:mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3975  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,254,293 - 134,254,353EPDNEW
RGD ID:6797807
Promoter ID:HG_KWN:35131
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000332271
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,726,359 - 134,726,859 (+)MPROMDB
RGD ID:6797806
Promoter ID:HG_KWN:35132
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_002410
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,727,481 - 134,728,727 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7049 AgrOrtholog
COSMIC MGAT5 COSMIC
Ensembl Genes ENSG00000152127 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000281923 ENTREZGENE
  ENST00000281923.4 UniProtKB/Swiss-Prot
  ENST00000409645 ENTREZGENE
  ENST00000409645.5 UniProtKB/Swiss-Prot
GTEx ENSG00000152127 GTEx
HGNC ID HGNC:7049 ENTREZGENE
Human Proteome Map MGAT5 Human Proteome Map
InterPro DUF4525 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlyclTrfase_18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGAT5_Glycosyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4249 UniProtKB/Swiss-Prot
NCBI Gene 4249 ENTREZGENE
OMIM 601774 OMIM
PANTHER ALPHA-1,6-MANNOSYLGLYCOPROTEIN 6-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALPHA-MANNOSIDE BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF4525 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30784 PharmGKB
UniProt D3DP70 ENTREZGENE
  MGT5A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53SM9 ENTREZGENE, UniProtKB/TrEMBL
  Q53SV8_HUMAN UniProtKB/TrEMBL
  Q53SZ9_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DP70 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-06-26 MGAT5  alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase    mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase  Symbol and/or name change 5135510 APPROVED