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ALG10B (ALG10 Alpha-1,2-Glucosyltransferase B) is a Protein Coding gene. Diseases associated with ALG10B include Long Qt Syndrome 2 and Long Qt Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity. An important paralog of this gene is ALG10.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J038315 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 610.8 | +0.3 | 322 | 2.4 | SP1 CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 SIX5 NFKBIZ ZNF692 | ALG10B CPNE8 RF01061-040 | |
GH12J038903 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 10.2 | +588.6 | 588633 | 4.6 | SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 REST RFX1 KDM1A ZNF692 | CPNE8-AS1 CPNE8 ALG10B piR-38352-108 | |
GH12J039122 | Enhancer | 0.6 | Ensembl ENCODE | 10.5 | +806.9 | 806922 | 2.8 | STAT1 KLF1 RAD21 ZNF354B SP1 CTCF | ALG10B CPNE8 LINC02406 lnc-CPNE8-4 ENSG00000257237 KIF21A | |
GH12J038664 | Enhancer | 0.4 | Ensembl | 3.7 | +348.1 | 348100 | 0.4 | CTCF RAD21 SMC3 ZNF654 | ALG10B lnc-KIF21A-2 piR-37370-002 piR-49406-004 CPNE8 | |
GH12J038350 | Enhancer | 0.9 | Ensembl ENCODE | 0.3 | +34.4 | 34422 | 1.4 | SP1 ATF7 BACH1 JUND RELA TCF12 IKZF2 TRIM22 EED ARID3A | piR-40605-002 HSALNG0090419 ALG10B CPNE8 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004583 | dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA,IDA | 14525949 |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0106073 | dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | 14525949 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Metabolism | ||
3 | N-Glycan biosynthesis | ||
4 | Transport to the Golgi and subsequent modification | ||
5 | Synthesis of substrates in N-glycan biosythesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IMP | 14525949 |
GO:0006487 | protein N-linked glycosylation | IBA | 21873635 |
GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | IEA | -- |
GO:0060050 | positive regulation of protein glycosylation | IMP | 14525949 |
GO:1901980 | positive regulation of inward rectifier potassium channel activity | IMP | 14525949 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Dolichol-20 |
|
2067-66-5 |
|
|||
Dolichyl b-D-glucosyl phosphate |
|
220496-27-5 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALG10B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | ALG10 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Alg10b 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ALG10 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | alg10 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Alg10 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tag-179 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DIE2 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs57963306 | - | p.Ser383Asn | |||
rs61730283 | - | p.Ile446Val | |||
rs6582584 | - | p.Ala84Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1467n100 | CNV | gain | 25217958 |
dgv1468n100 | CNV | gain | 25217958 |
dgv1485n100 | CNV | gain | 25217958 |
dgv1487n100 | CNV | gain | 25217958 |
dgv196n27 | CNV | gain | 19166990 |
dgv2572n54 | CNV | gain | 21841781 |
dgv285n67 | CNV | gain | 20364138 |
esv2362578 | CNV | deletion | 18987734 |
esv2422349 | CNV | duplication | 17116639 |
esv2422488 | CNV | duplication | 17116639 |
esv2745769 | CNV | deletion | 23290073 |
esv2751097 | CNV | gain | 17911159 |
esv2759893 | CNV | gain+loss | 17122850 |
esv2761088 | CNV | gain | 21179565 |
esv34542 | CNV | gain | 17911159 |
esv3629224 | CNV | gain | 21293372 |
esv3629225 | CNV | loss | 21293372 |
esv3892188 | CNV | gain | 25118596 |
nsv1122723 | CNV | deletion | 24896259 |
nsv469356 | CNV | gain | 19166990 |
nsv558350 | CNV | gain | 21841781 |
nsv558574 | CNV | gain | 21841781 |
nsv818910 | CNV | gain | 17921354 |
nsv826332 | CNV | gain | 20364138 |
nsv826335 | CNV | gain | 20364138 |
nsv8963 | CNV | loss | 18304495 |
nsv976602 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 2 |
|
|
long qt syndrome |
|
|
toxic myocarditis |
|
|
ivic syndrome |
|
|