B3GAT3 (beta-1,3-glucuronyltransferase 3) - Rat Genome Database

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Gene: B3GAT3 (beta-1,3-glucuronyltransferase 3) Homo sapiens
Analyze
Symbol: B3GAT3
Name: beta-1,3-glucuronyltransferase 3
RGD ID: 1323698
HGNC Page HGNC
Description: Exhibits glucuronosyltransferase activity and protein phosphatase activator activity. Involved in several processes, including glycosaminoglycan biosynthetic process; positive regulation of intracellular protein transport; and proteoglycan biosynthetic process. Localizes to cis-Golgi network. Implicated in Larsen-like syndrome B3GAT3 type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I); galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; GLCATI; glcUAT-I; glucuronosyltransferase I; JDSCD; Sqv-8-like protein; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: B3GAT3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,615,296 - 62,622,154 (-)EnsemblGRCh38hg38GRCh38
GRCh381162,615,296 - 62,621,986 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,382,768 - 62,389,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,139,344 - 62,146,024 (-)NCBINCBI36hg18NCBI36
Build 341162,139,344 - 62,146,024NCBI
Celera1159,712,332 - 59,719,018 (-)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,711,687 - 58,718,562 (-)NCBIHuRef
CHM1_11162,265,814 - 62,272,710 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormally large globe  (IAGP)
Accelerated skeletal maturation  (IAGP)
Amblyopia  (IAGP)
Aortic root aneurysm  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral elbow dislocations  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad distal phalanges of all fingers  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Cleft palate  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Craniosynostosis  (IAGP)
Cutis laxa  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental glaucoma  (IAGP)
Dislocated radial head  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elbow flexion contracture  (IAGP)
Enlarged metaphyses  (IAGP)
Esotropia  (IAGP)
Flared metaphysis  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Generalized osteoporosis  (IAGP)
Genu valgum  (IAGP)
Hallux valgus  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Left ventricular hypertrophy  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Metacarpophalangeal joint hyperextensibility  (IAGP)
Metatarsus adductus  (IAGP)
Microdontia  (IAGP)
Microretrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Multiple joint dislocation  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Patent foramen ovale  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Prominent antitragus  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent fractures  (IAGP)
Rhizomelia  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Shoulder dislocation  (IAGP)
Small face  (IAGP)
Spatulate thumbs  (IAGP)
Talipes equinovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Thick eyebrow  (IAGP)
Webbed neck  (IAGP)
References

Additional References at PubMed
PMID:9506957   PMID:9927678   PMID:10526176   PMID:10842173   PMID:10946001   PMID:11535117   PMID:12477932   PMID:12794088   PMID:15231747   PMID:15489334   PMID:15522873   PMID:15601778  
PMID:17207965   PMID:17567734   PMID:18400750   PMID:19199708   PMID:19946888   PMID:20301725   PMID:21763480   PMID:21873635   PMID:21882400   PMID:21988832   PMID:23376485   PMID:24425863  
PMID:25544563   PMID:25893793   PMID:26186194   PMID:27432908   PMID:28298427   PMID:28514442   PMID:28771243   PMID:29509190   PMID:30442662   PMID:31073040   PMID:31527615   PMID:33060197  
PMID:33144569   PMID:33845483  


Genomics

Comparative Map Data
B3GAT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1162,615,296 - 62,622,154 (-)EnsemblGRCh38hg38GRCh38
GRCh381162,615,296 - 62,621,986 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371162,382,768 - 62,389,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,139,344 - 62,146,024 (-)NCBINCBI36hg18NCBI36
Build 341162,139,344 - 62,146,024NCBI
Celera1159,712,332 - 59,719,018 (-)NCBI
Cytogenetic Map11q12.3NCBI
HuRef1158,711,687 - 58,718,562 (-)NCBIHuRef
CHM1_11162,265,814 - 62,272,710 (-)NCBICHM1_1
B3gat3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,897,740 - 8,904,600 (+)NCBIGRCm39mm39
GRCm39 Ensembl198,897,738 - 8,904,600 (+)Ensembl
GRCm38198,920,374 - 8,927,236 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,920,374 - 8,927,236 (+)EnsemblGRCm38mm10GRCm38
MGSCv37198,994,883 - 9,001,726 (+)NCBIGRCm37mm9NCBIm37
MGSCv36198,987,438 - 8,994,281 (+)NCBImm8
Celera198,681,170 - 8,688,012 (+)NCBICelera
Cytogenetic Map19ANCBI
B3gat3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21205,817,374 - 205,823,928 (+)NCBI
Rnor_6.0 Ensembl1225,120,061 - 225,126,579 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01225,120,061 - 225,126,579 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01232,057,681 - 232,064,199 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,597,624 - 211,604,142 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11211,756,053 - 211,762,603 (+)NCBI
Celera1203,330,148 - 203,336,695 (+)NCBICelera
Cytogenetic Map1q43NCBI
B3gat3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955599573,426 - 578,032 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955599573,982 - 578,032 (+)NCBIChiLan1.0ChiLan1.0
B3GAT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11161,327,454 - 61,332,323 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,327,454 - 61,332,323 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01157,972,509 - 57,979,702 (-)NCBIMhudiblu_PPA_v0panPan3
B3GAT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,020,547 - 54,025,264 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,020,736 - 54,024,910 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,625,615 - 52,630,276 (+)NCBI
ROS_Cfam_1.01855,073,284 - 55,077,944 (+)NCBI
UMICH_Zoey_3.11854,169,183 - 54,173,845 (+)NCBI
UNSW_CanFamBas_1.01853,744,264 - 53,748,924 (+)NCBI
UU_Cfam_GSD_1.01854,539,698 - 54,544,358 (+)NCBI
B3gat3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,522,951 - 10,528,316 (+)NCBI
SpeTri2.0NW_004936581636,648 - 642,138 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
B3GAT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,119,656 - 9,125,062 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,119,621 - 9,125,081 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,465,224 - 8,470,707 (+)NCBISscrofa10.2Sscrofa10.2susScr3
B3GAT3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,282,414 - 11,289,640 (+)NCBI
ChlSab1.1 Ensembl111,282,601 - 11,289,743 (+)Ensembl
Vero_WHO_p1.0NW_023666038108,618,017 - 108,624,892 (+)NCBI
B3gat3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249261,142,544 - 1,145,561 (-)NCBI

Position Markers
B3GAT3_9473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,382,705 - 62,383,258UniSTSGRCh37
Build 361162,139,281 - 62,139,834RGDNCBI36
Celera1159,712,269 - 59,712,822RGD
HuRef1158,711,624 - 58,712,177UniSTS
ROM1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,382,307 - 62,382,564UniSTSGRCh37
Build 361162,138,883 - 62,139,140RGDNCBI36
Celera1159,711,871 - 59,712,128RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13UniSTS
HuRef1158,711,226 - 58,711,483UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS
NCBI RH Map11563.0UniSTS
WI-9219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,382,339 - 62,382,439UniSTSGRCh37
Build 361162,138,915 - 62,139,015RGDNCBI36
Celera1159,711,903 - 59,712,003RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13UniSTS
HuRef1158,711,258 - 58,711,358UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
B3GAT3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,383,233 - 62,384,022UniSTSGRCh37
GRCh373160,171,050 - 160,171,133UniSTSGRCh37
Celera1159,712,797 - 59,713,586UniSTS
Celera3158,593,067 - 158,593,150UniSTS
HuRef3157,569,621 - 157,569,704UniSTS
HuRef1158,712,152 - 58,712,941UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2665
Count of miRNA genes:845
Interacting mature miRNAs:1021
Transcripts:ENST00000265471, ENST00000531383, ENST00000532585, ENST00000533303, ENST00000534026, ENST00000534715
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2429 2434 1707 607 1831 449 3705 1225 3666 416 1446 1607 171 1204 2139 4
Low 6 553 19 17 119 15 651 970 65 2 7 3 3 1 649 1 2
Below cutoff 2 3 1 7 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB009598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265471   ⟹   ENSP00000265471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,615,296 - 62,621,986 (-)Ensembl
RefSeq Acc Id: ENST00000531383   ⟹   ENSP00000431359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,615,297 - 62,622,154 (-)Ensembl
RefSeq Acc Id: ENST00000532585   ⟹   ENSP00000432604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,615,451 - 62,621,984 (-)Ensembl
RefSeq Acc Id: ENST00000533303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,616,689 - 62,617,454 (-)Ensembl
RefSeq Acc Id: ENST00000534026   ⟹   ENSP00000432474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,616,067 - 62,621,984 (-)Ensembl
RefSeq Acc Id: ENST00000534715   ⟹   ENSP00000432854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1162,617,005 - 62,622,146 (-)Ensembl
RefSeq Acc Id: NM_001288721   ⟹   NP_001275650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,615,296 - 62,621,986 (-)NCBI
CHM1_11162,265,814 - 62,272,710 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001288722   ⟹   NP_001275651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,615,296 - 62,621,986 (-)NCBI
CHM1_11162,265,814 - 62,272,710 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001288723   ⟹   NP_001275652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,615,296 - 62,621,986 (-)NCBI
CHM1_11162,265,814 - 62,272,710 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012200   ⟹   NP_036332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,615,296 - 62,621,986 (-)NCBI
GRCh371162,382,768 - 62,389,647 (-)ENTREZGENE
Build 361162,139,344 - 62,146,024 (-)NCBI Archive
HuRef1158,711,687 - 58,718,562 (-)ENTREZGENE
CHM1_11162,265,814 - 62,272,710 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109991
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,615,296 - 62,621,986 (-)NCBI
CHM1_11162,265,814 - 62,272,710 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036332   ⟸   NM_012200
- Peptide Label: isoform 1
- UniProtKB: O94766 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275651   ⟸   NM_001288722
- Peptide Label: isoform 3
- UniProtKB: G3V150 (UniProtKB/TrEMBL),   Q5U676 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275652   ⟸   NM_001288723
- Peptide Label: isoform 4
- UniProtKB: O94766 (UniProtKB/Swiss-Prot),   Q5U676 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275650   ⟸   NM_001288721
- Peptide Label: isoform 2
- UniProtKB: Q5U676 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431359   ⟸   ENST00000531383
RefSeq Acc Id: ENSP00000432604   ⟸   ENST00000532585
RefSeq Acc Id: ENSP00000432474   ⟸   ENST00000534026
RefSeq Acc Id: ENSP00000432854   ⟸   ENST00000534715
RefSeq Acc Id: ENSP00000265471   ⟸   ENST00000265471

Promoters
RGD ID:6814989
Promoter ID:HG_MRA:2767
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC011173,   CU675932
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,138,151 - 62,138,651 (-)MPROMDB
RGD ID:6788505
Promoter ID:HG_KWN:13112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012200,   UC001NTX.1,   UC001NTY.1,   UC009YNZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,145,854 - 62,146,354 (-)MPROMDB
RGD ID:6850688
Promoter ID:EP73138
Type:multiple initiation site
Name:HS_B3GAT3
Description:Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,146,032 - 62,146,092EPD
RGD ID:7220663
Promoter ID:EPDNEW_H16077
Type:initiation region
Name:B3GAT3_1
Description:beta-1,3-glucuronyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16078  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,621,986 - 62,622,046EPDNEW
RGD ID:7220665
Promoter ID:EPDNEW_H16078
Type:initiation region
Name:B3GAT3_2
Description:beta-1,3-glucuronyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16077  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,622,139 - 62,622,199EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) single nucleotide variant MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [RCV000211049]|Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000023536]|not provided [RCV000724894] Chr11:62616585 [GRCh38]
Chr11:62384057 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 copy number gain See cases [RCV000053620] Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3
pathogenic
GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 copy number gain See cases [RCV000053621] Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3
pathogenic
NM_012200.3(B3GAT3):c.466C>T (p.Arg156Cys) single nucleotide variant Malignant melanoma [RCV000069567] Chr11:62617139 [GRCh38]
Chr11:62384611 [GRCh37]
Chr11:62141187 [NCBI36]
Chr11:11q12.3
not provided
NM_000327.3(ROM1):c.960A>C (p.Lys320Asn) single nucleotide variant Malignant melanoma [RCV000062314] Chr11:62614743 [GRCh38]
Chr11:62382215 [GRCh37]
Chr11:62138791 [NCBI36]
Chr11:11q12.3
not provided
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000660631] Chr11:62617051 [GRCh38]
Chr11:62384523 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_153265.2(EML3):c.516G>A (p.Arg172=) single nucleotide variant Malignant melanoma [RCV000069565] Chr11:62610929 [GRCh38]
Chr11:62378401 [GRCh37]
Chr11:62134977 [NCBI36]
Chr11:11q12.3
not provided
NM_153265.2(EML3):c.515G>A (p.Arg172Lys) single nucleotide variant Malignant melanoma [RCV000069566] Chr11:62610930 [GRCh38]
Chr11:62378402 [GRCh37]
Chr11:62134978 [NCBI36]
Chr11:11q12.3
not provided
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 copy number gain See cases [RCV000134807] Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3
uncertain significance
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 copy number gain See cases [RCV000138411] Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, single nucleotide variant MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV000211050] Chr11:62617186 [GRCh38]
Chr11:62384658 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, single nucleotide variant MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [RCV000211124] Chr11:62616748 [GRCh38]
Chr11:62384220 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.331G>A (p.Val111Met) single nucleotide variant not provided [RCV000489230] Chr11:62617274 [GRCh38]
Chr11:62384746 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile) single nucleotide variant not provided [RCV000489552] Chr11:62617012 [GRCh38]
Chr11:62384484 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_012200.4(B3GAT3):c.130_138del (p.Leu44_Gln46del) deletion not provided [RCV000599436] Chr11:62620616..62620624 [GRCh38]
Chr11:62388088..62388096 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 copy number loss See cases [RCV000448355] Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_012200.4(B3GAT3):c.909+263del deletion Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000625035] Chr11:62616243 [GRCh38]
Chr11:62383715 [GRCh37]
Chr11:11q12.3
benign
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000655219] Chr11:62620646 [GRCh38]
Chr11:62388118 [GRCh37]
Chr11:11q12.3
benign
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000655220] Chr11:62616594 [GRCh38]
Chr11:62384066 [GRCh37]
Chr11:11q12.3
benign
NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000700742] Chr11:62620579 [GRCh38]
Chr11:62388051 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000687488] Chr11:62615754 [GRCh38]
Chr11:62383226 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, single nucleotide variant MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV001260983]|not provided [RCV000760862] Chr11:62616742 [GRCh38]
Chr11:62384214 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic
NM_012200.4(B3GAT3):c.314G>A (p.Arg105Gln) single nucleotide variant not provided [RCV000761775] Chr11:62617291 [GRCh38]
Chr11:62384763 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV000902854] Chr11:62616569 [GRCh38]
Chr11:62384041 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.381C>T (p.Ala127=) single nucleotide variant not provided [RCV000906261] Chr11:62617224 [GRCh38]
Chr11:62384696 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000966470] Chr11:62616706 [GRCh38]
Chr11:62384178 [GRCh37]
Chr11:11q12.3
benign
NM_012200.4(B3GAT3):c.582C>T (p.Asp194=) single nucleotide variant not provided [RCV000926962] Chr11:62617023 [GRCh38]
Chr11:62384495 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.906T>G (p.Thr302=) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000904648] Chr11:62616509 [GRCh38]
Chr11:62383981 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.909+263C>G single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000988568] Chr11:62616243 [GRCh38]
Chr11:62383715 [GRCh37]
Chr11:11q12.3
benign
NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000803881] Chr11:62620507 [GRCh38]
Chr11:62387979 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 copy number gain not provided [RCV000849841] Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.277C>T (p.Leu93=) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000909930] Chr11:62617328 [GRCh38]
Chr11:62384800 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000954962] Chr11:62615779 [GRCh38]
Chr11:62383251 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000904604] Chr11:62621905 [GRCh38]
Chr11:62389377 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.741G>A (p.Arg247=) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV000890241] Chr11:62616674 [GRCh38]
Chr11:62384146 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.567C>T (p.Val189=) single nucleotide variant not provided [RCV000911876] Chr11:62617038 [GRCh38]
Chr11:62384510 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.992del (p.Pro331fs) deletion Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001205495] Chr11:62615717 [GRCh38]
Chr11:62383189 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001205542] Chr11:62620659 [GRCh38]
Chr11:62388131 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001059799] Chr11:62616711 [GRCh38]
Chr11:62384183 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3
uncertain significance
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, single nucleotide variant MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV001260982] Chr11:62617100 [GRCh38]
Chr11:62384572 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001257137] Chr11:62617124 [GRCh38]
Chr11:62384596 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001257138] Chr11:62616526 [GRCh38]
Chr11:62383998 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001330408] Chr11:62615729 [GRCh38]
Chr11:62383201 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del) microsatellite Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001338266] Chr11:62621885..62621887 [GRCh38]
Chr11:62389357..62389359 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001304473] Chr11:62617181 [GRCh38]
Chr11:62384653 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_012200.4(B3GAT3):c.914del (p.Leu305fs) deletion Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001334684] Chr11:62615795 [GRCh38]
Chr11:62383267 [GRCh37]
Chr11:11q12.3
pathogenic
NM_012200.4(B3GAT3):c.619-6C>T single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001414910] Chr11:62616802 [GRCh38]
Chr11:62384274 [GRCh37]
Chr11:11q12.3
likely benign
NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001308588] Chr11:62621916 [GRCh38]
Chr11:62389388 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del) deletion Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001360241] Chr11:62616750..62616758 [GRCh38]
Chr11:62384222..62384230 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001343609] Chr11:62620587 [GRCh38]
Chr11:62388059 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001320993] Chr11:62617303 [GRCh38]
Chr11:62384775 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001345472] Chr11:62617099 [GRCh38]
Chr11:62384571 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.371T>A (p.Leu124Gln) single nucleotide variant Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001371767] Chr11:62617234 [GRCh38]
Chr11:62384706 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs) insertion Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001390252] Chr11:62617088..62617089 [GRCh38]
Chr11:62384560..62384561 [GRCh37]
Chr11:11q12.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:923 AgrOrtholog
COSMIC B3GAT3 COSMIC
Ensembl Genes ENSG00000149541 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431359 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000432474 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432604 UniProtKB/TrEMBL
  ENSP00000432854 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000531383 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000532585 UniProtKB/TrEMBL
  ENST00000534026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000534715 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149541 GTEx
HGNC ID HGNC:923 ENTREZGENE
Human Proteome Map B3GAT3 Human Proteome Map
InterPro Glyco_trans_43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26229 UniProtKB/Swiss-Prot
NCBI Gene 26229 ENTREZGENE
OMIM 245600 OMIM
  606374 OMIM
PANTHER PTHR10896 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25217 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3GA3_HUMAN UniProtKB/Swiss-Prot
  E9PNA1_HUMAN UniProtKB/TrEMBL
  E9PQ60_HUMAN UniProtKB/TrEMBL
  G3V150 ENTREZGENE, UniProtKB/TrEMBL
  O94766 ENTREZGENE
  Q5U676 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7ZAB3 UniProtKB/Swiss-Prot
  Q96I06 UniProtKB/Swiss-Prot
  Q9UEP0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-15 B3GAT3  beta-1,3-glucuronyltransferase 3    beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)  Symbol and/or name change 5135510 APPROVED
2011-08-17 B3GAT3  beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)  B3GAT3  beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)  Symbol and/or name change 5135510 APPROVED