ALG12 Gene
protein-coding GIFtS: 54
GCID: GC22M050296
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|
ALG12, alpha-1,6-mannosyltransferase(Previous names: asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase),...)
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Aliases for ALG12 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| ALG12, Alpha-1,6-Mannosyltransferase1 2 | | Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae,Alpha-1,6-Mannosyltransferase)2 | | ECM391 2 | | Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog2 | | Asparagine-Linked Glycosylation 12 Homolog (Yeast,Alpha-1,6-Mannosyltransferase)1 2 | | Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase2 | | Asparagine-Linked Glycosylation Protein 12 Homolog2 3 | | Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2 | | Mannosyltransferase ALG12 Homolog2 3 | | Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase1 | | Membrane Protein SB872 3 | | Dolichyl-P-Mannose:Man-7-GlcNAc-2-PP-Dolichyl-Alpha-6-Mannosyltransferase1 | | HALG121 | | Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase2 | | CDG1G2 5 | | Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase1 | | Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog (S.Cerevisiae)1 | | EC 2.4.1.2603 | | PP146732 | | |
Export aliases for ALG12 gene to outside databasesPrevious GC identifers: GC00U990901 GC22M048516 GC22M048617 GC22M048682 GC22M033243 |
Summaries for ALG12 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for ALG12: This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of theeighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor(dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated withcongenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. (provided by RefSeq,Jul 2008) UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10Function: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor(dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation Gene Wiki entry for ALG12
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Genomic Views for ALG12 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ALG12 gene promoter: COUP-TF1 Elk-1 COUP Pax-2 HNF-4alpha2 Pax-2a HNF-4alpha1 COUP-TF FOXO1a FOXO1 Other transcription factors
Search SABiosciences Chromatin IP Primers for ALG12
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG12 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.33ALG12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M050296: view genomic region
(about GC identifiers)
Start:
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50,296,852 bp from pter |
End:
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50,312,106 bp from pter |
Size:
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15,255 bases |
Orientation:
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minus strand |
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Proteins for ALG12 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10 (See
protein sequence)Recommended Name: Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase Size: 488 amino acids; 54655 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Sequence caution: Sequence=AAM94900.1; Type=Frameshift; Positions=468;
Secondary accessions: A6PWM1 Q4KMH4 Q8NG10 Q96AA4Explore the universe of human proteins at neXtProt for ALG12: NX_Q9BV10
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BV10 ALG12 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_077010.1 ENSEMBL proteins: ENSP00000333813 ENSP00000420630 ENSP00000417387 Reactome Protein details: Q9BV10 Human Recombinant Protein Products for ALG12:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ALG12 for ontologies About GeneDecksing
ALG12 Antibody Products: Assay Products for ALG12: |
Protein
Domains / Families for ALG12 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ALG12 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BV10ProtoNet protein and cluster: Q9BV10 UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10Similarity: Belongs to the glycosyltransferase 22 family |
Function for ALG12 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: ALG12_HUMAN, Q9BV10Function: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor(dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylationCatalytic activity: Dolichyl beta-D-mannosyl phosphate +D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol=D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol+ dolichyl phosphate Enzyme Number (IUBMB): EC 2.4.1.2601
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000009 | alpha-1,6-mannosyltransferase activity |
IC | 12217961 | | GO:0052917 | dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity |
IEA | -- |
ALG12 for ontologies About GeneDecksing
Animal Models:
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ALG12 (NM_024105) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALG12 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG12  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG12 |
|
Pathways & Interactions for ALG12 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Asparagine N-linked glycosylation | | | 2 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | | | 3 | Metabolism | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for ALG12
2
Kegg Pathways (Kegg details for ALG12): UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10Pathway: Protein modification; protein glycosylation
ALG12 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG12
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
 5/42 Interacting proteins for ALG12 (Q9BV103 ENSP000003338134) via UniProtKB, MINT, STRING, and/or I2D (see all 42) About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
ALG12 for ontologies About GeneDecksing
|
Drugs & Compounds for ALG12 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for ALG12 Search CenterWatch for drugs/clinical trials and news about ALG12 
|
Transcripts for ALG12 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for ALG12 gene: NM_024105.3 Unigene Cluster for ALG12: Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) Hs.526711 [show with all ESTs]Unigene Representative Sequence: NM_0241053 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000330817(uc003biy.3) ENST00000486602 ENST00000492791
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ALG12 (NM_024105) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ALG12 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG12  |
Additional cDNA sequence: AF258571.1 AF318343.1 AJ290427.1 AJ303120.1 AK126604.1 BC001729.1 BC098562.1 CR456369.1 8 DOTS entries: DT.100670712 DT.314951 DT.101983752 DT.120662638 DT.100760172 DT.91709637 DT.91809500 DT.97769394 24/159 AceView cDNA sequences (see all 159): AF318343 AJ303120 BU688514 AF258571 BX380067 BI517535 AI378237 CR456369 AJ290427 BM980308 BI763987 Z40385 BM983607 CF132333 F36112 BI766537 AA974371 NM_024105 BI029257 BX354635 AI598139 CD107199 BC001729 BM924620 GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ALG12 (see all 6) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ALG12
|
Expression for ALG12 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ALG12 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTGGCCCCGG
 About this image See ALG12 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ALG12
SOURCE GeneReport for Unigene cluster: Hs.526711
UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10Tissue specificity: Expressed in fibroblasts SABiosciences Custom PCR Arrays for ALG12
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG12 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ALG12 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG12 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALG12 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG12 |
Orthologs for ALG12 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ALG12 gene from 10/31 species (see all 31) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Alg121 , 5 |
asparagine-linked glycosylation 12 homolog (yeast, more5 asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)1 |
79.93(n)1 79.59(a)1 |
  |
15 (44.30 cM)5 2237741 NM_001142357.11 NP_001135829.11 888052445 |
chicken (Gallus gallus) |
Aves |
ALG121 |
asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase more |
64.72(n) 68.62(a) |
  |
417733 NM_001039270.1 NP_001034359.1 |
lizard (Anolis carolinensis) |
Reptilia |
ALG126 |
-- |
67(a) |
1 ↔ 1 |
GL343277.1(224354-232031) |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.45932 |
Transcribed sequence with weak similarity to protein more |
77.97(n) |
  |
AL846509.2 |
zebrafish (Danio rerio) |
Actinopterygii |
alg121 |
asparagine-linked glycosylation 12 homolog (yeast, more |
61.08(n) 60.3(a) |
  |
569494 NM_001098749.1 NP_001092219.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG84121 |
CG8412 |
55.79(n) 52.14(a) |
  |
41191 NM_141682.3 NP_649939.1 |
worm (Caenorhabditis elegans) |
Secernentea |
CELE_ZC513.51 |
Protein ZC513.5 |
47.01(n) 41.28(a) |
  |
179185 NM_072670.2 NP_505071.1 |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
ALG12(YNR030W)4 ALG121 |
Alpha-1,6-mannosyltransferase localized to the ER; more4 Alg12p1 |
47.49(n)1 37.44(a)1 |
  |
14(678799-680454)4 8557641, 4 NP_014427.11, 4 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
ALG121 |
alpha-1,6-mannosyltransferase |
48.93(n) 44.06(a) |
  |
5007658 NM_001083979.2 NP_001077448.1 |
rice (Oryza sativa) |
Liliopsida |
Os.381532 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
72.8(n) |
  |
AK069661.1 |
ENSEMBL Gene Tree for ALG12 (if available) TreeFam Gene Tree for ALG12 (if available)  |
Paralogs for ALG12 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for ALG12 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 22 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for ALG12 (50296852 - 50312106 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ALG12: -- Human Gene Mutation Database (HGMD): ALG12
Locus Specific Mutation Databases (LSDB): ALG12
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG12 |
|
Disorders
/ Diseases for ALG12 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ALG12 for disorders About GeneDecksing
OMIM gene information: 607144 OMIM disorders: 607143 UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Defects in ALG12 are the cause of congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]. CDGs area family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized byunder-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, suchas disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulationdisorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins duringembryonic development, differentiation, and maintenance of cell functions 5 diseases for ALG12: About MalaCardscongenital disorder of glycosylation congenital disorder of glycosylation type 1g polyhydramnios hypotonia cardiomyopathy 1 disease from the University of Copenhagen DISEASES database for ALG12:Congenital disorder of glycosylation GeneTests: ALG12 Congenital Disorders of Glycosylation Export disorders for ALG12 gene to outside databases
|
Publications for ALG12 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ALG12 gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with ALG12) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. (PubMed id 11983712)1, 2, 3 Chantret I.... Moore S.E.H. (2002)
- ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (PubMed id 12217961)1, 2, 9 Grubenmann C.E....Hennet T. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
- Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. (PubMed id 12736397)1, 2 Zdebska E.... Delaunay J. (2003)
- Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. (PubMed id 12093361)1, 2 Thiel C.... Koerner C. (2002)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- Expanding spectrum of congenital disorder of glycosylation Ig (CDG- Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. (PubMed id 17506107)2 Kranz C.... Freeze H.H. (2007)
- Congenital disorders of glycosylation: a booming chapter of pediatrics. (PubMed id 15273506)1 Jaeken J. and Carchon H. (2004)
|
External Searches for ALG12 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ALG12 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ALG12 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ALG12 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for ALG12 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG12 | | GGDB | http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG12 |
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About This Section
| Patent Information for ALG12 gene: Search GeneIP for patents involving ALG12
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for ALG12 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for ALG12 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALG12 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALG12 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for ALG12 | | OriGene 3'-UTR Clone for ALG12 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALG12 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for ALG12 | | OriGene Custom Protein Services for ALG12 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ALG12 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG12 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG12 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALG12 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALG12 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALG12 |
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| | | Search Tocris compounds for ALG12 |
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 | | ALG12 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG12 |
|  |  |  |  | | | Search ThermoFisher Antibodies for ALG12 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG12 |
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