Human Gene ALG2 (ENST00000476832.2) from GENCODE V44
  Description: Homo sapiens ALG2 alpha-1,3/1,6-mannosyltransferase (ALG2), transcript variant 1, mRNA. (from RefSeq NM_033087)
RefSeq Summary (NM_033087): This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008].
Gencode Transcript: ENST00000476832.2
Gencode Gene: ENSG00000119523.10
Transcript (Including UTRs)
   Position: hg38 chr9:99,216,425-99,221,942 Size: 5,518 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr9:99,217,934-99,221,894 Size: 3,961 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:99,216,425-99,221,942)mRNA (may differ from genome)Protein (416 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALG2_HUMAN
DESCRIPTION: RecName: Full=Alpha-1,3/1,6-mannosyltransferase ALG2; EC=2.4.1.132; EC=2.4.1.257; AltName: Full=Asparagine-linked glycosylation protein 2 homolog; AltName: Full=GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; AltName: Full=GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; AltName: Full=GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;
FUNCTION: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate.
CATALYTIC ACTIVITY: GDP-D-mannose + D-Man-beta-(1->4)-D-GlcNAc- beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D-Man-alpha-(1->3)- D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-GlcNAc-diphosphodolichol.
CATALYTIC ACTIVITY: GDP-D-mannose + D-Man-alpha-(1->3)-D-Man-beta- (1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D- Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc- beta-(1->4)-D-GlcNAc-diphosphodolichol.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
DISEASE: Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I) [MIM:607906]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
SIMILARITY: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG2";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ALG2
Diseases sorted by gene-association score: congenital disorder of glycosylation, type ii* (1319), myasthenic syndrome, congenital, 14, with tubular aggregates* (1200), congenital myasthenic syndromes with glycosylation defect* (175), congenital disorder of glycosylation, type ih (14), fructose intolerance, hereditary (7), camurati-engelmann disease (6), congenital disorder of glycosylation, type in (6), adult syndrome (5), congenital myasthenic syndrome (2), walker-warburg syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.33 RPKM in Adrenal Gland
Total median expression: 459.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.9048-0.394 Picture PostScript Text
3' UTR -341.901509-0.227 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001296 - Glyco_trans_1

Pfam Domains:
PF00534 - Glycosyl transferases group 1

ModBase Predicted Comparative 3D Structure on Q9H553
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000033 alpha-1,3-mannosyltransferase activity
GO:0004378 GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046982 protein heterodimerization activity
GO:0047485 protein N-terminus binding
GO:0048306 calcium-dependent protein binding
GO:0102704 GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0033577 protein glycosylation in endoplasmic reticulum
GO:0051592 response to calcium ion
GO:0097502 mannosylation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF206456 - JP 2014500723-A/13959: Polycomb-Associated Non-Coding RNAs.
MA442033 - JP 2018138019-A/13959: Polycomb-Associated Non-Coding RNAs.
AK074988 - Homo sapiens cDNA FLJ90507 fis, clone NT2RP3004133, weakly similar to GLYCOSYLTRANSFERASE ALG2 (EC 2.4.1.-).
AB161356 - Homo sapiens ALG2 mRNA for asparagine-linked glycosylation 2, complete cds.
AK075172 - Homo sapiens cDNA FLJ90691 fis, clone PLACE1006290, weakly similar to GLYCOSYLTRANSFERASE ALG2 (EC 2.4.1.-).
BC017876 - Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone MGC:22677 IMAGE:4698763), complete cds.
AK027417 - Homo sapiens cDNA FLJ14511 fis, clone NT2RM1000648, weakly similar to GLYCOSYLTRANSFERASE ALG2 (EC 2.4.1.-).
AK074704 - Homo sapiens cDNA FLJ90223 fis, clone NT2RM1000580, weakly similar to GLYCOSYLTRANSFERASE ALG2 (EC 2.4.1.-).
DQ891989 - Synthetic construct clone IMAGE:100004619; FLH182112.01X; RZPDo839C09138D asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) (ALG2) gene, encodes complete protein.
KJ895084 - Synthetic construct Homo sapiens clone ccsbBroadEn_04478 ALG2 gene, encodes complete protein.
DQ895179 - Synthetic construct Homo sapiens clone IMAGE:100009639; FLH182108.01L; RZPDo839C09137D asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) (ALG2) gene, encodes complete protein.
CU676096 - Synthetic construct Homo sapiens gateway clone IMAGE:100022304 5' read ALG2 mRNA.
AK075189 - Homo sapiens cDNA FLJ90708 fis, clone PLACE1007845.
LF354587 - JP 2014500723-A/162090: Polycomb-Associated Non-Coding RNAs.
MA590164 - JP 2018138019-A/162090: Polycomb-Associated Non-Coding RNAs.
AY358697 - Homo sapiens clone DNA66511 PLLK666 (UNQ666) mRNA, complete cds.
BC015126 - Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3839350), with apparent retained intron.
JD331509 - Sequence 312533 from Patent EP1572962.
JD162055 - Sequence 143079 from Patent EP1572962.
JD562417 - Sequence 543441 from Patent EP1572962.
JD112769 - Sequence 93793 from Patent EP1572962.
JD101740 - Sequence 82764 from Patent EP1572962.
JD334566 - Sequence 315590 from Patent EP1572962.
JD530999 - Sequence 512023 from Patent EP1572962.
AK027814 - Homo sapiens cDNA FLJ14908 fis, clone PLACE1005953, highly similar to Alpha-1,3-mannosyltransferase ALG2 (EC 2.4.1.-).
LF354588 - JP 2014500723-A/162091: Polycomb-Associated Non-Coding RNAs.
MA590165 - JP 2018138019-A/162091: Polycomb-Associated Non-Coding RNAs.
KJ903517 - Synthetic construct Homo sapiens clone ccsbBroadEn_12911 ALG2 gene, encodes complete protein.
LF354589 - JP 2014500723-A/162092: Polycomb-Associated Non-Coding RNAs.
MA590166 - JP 2018138019-A/162092: Polycomb-Associated Non-Coding RNAs.
LF354590 - JP 2014500723-A/162093: Polycomb-Associated Non-Coding RNAs.
MA590167 - JP 2018138019-A/162093: Polycomb-Associated Non-Coding RNAs.
LF354591 - JP 2014500723-A/162094: Polycomb-Associated Non-Coding RNAs.
MA590168 - JP 2018138019-A/162094: Polycomb-Associated Non-Coding RNAs.
LF354592 - JP 2014500723-A/162095: Polycomb-Associated Non-Coding RNAs.
MA590169 - JP 2018138019-A/162095: Polycomb-Associated Non-Coding RNAs.
JD462731 - Sequence 443755 from Patent EP1572962.
DQ570480 - Homo sapiens piRNA piR-30592, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00510 - N-Glycan biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS - protein N-glycosylation initial phase (eukaryotic)

Reactome (by CSHL, EBI, and GO)

Protein Q9H553 (Reactome details) participates in the following event(s):

R-HSA-446208 Addition of a second mannose to the N-glycan precursor by ALG2
R-HSA-449718 Addition of a third mannose to the N-glycan precursor by ALG2
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A2A2Y0, ALG2_HUMAN, ENST00000476832.1, NM_033087, Q8NBX2, Q8NC39, Q9H553, uc004azf.1, uc004azf.2, uc004azf.3, uc004azf.4, uc004azf.5, UNQ666/PRO1298
UCSC ID: ENST00000476832.2
RefSeq Accession: NM_033087
Protein: Q9H553 (aka ALG2_HUMAN)
CCDS: CCDS6739.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ALG2:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)
cms (Congenital Myasthenic Syndromes Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.