Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ALG12 Gene

protein-coding   GIFtS: 54
GCID: GC22M050297

ALG12, Alpha-1,6-Mannosyltransferase

(Previous names: asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase),...)
  See ALG12-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
ALG12, Alpha-1,6-Mannosyltransferase1 2     ECM392
Asparagine-Linked Glycosylation 12 Homolog (Yeast,
Alpha-1,6-Mannosyltransferase)1 2
     PP146732
Asparagine-Linked Glycosylation Protein 12 Homolog2 3     Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae,
Alpha-1,6-Mannosyltransferase)2
Mannosyltransferase ALG12 Homolog2 3     Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog2
Membrane Protein SB872 3     Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase2
hALG122 3     Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2
CDG1G2 5     dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase2
6-mannosyltransferase1     dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase2
Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog
(S. Cerevisiae)1
     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase2
Dol-P-Man Dependent Alpha-11     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase3
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-11     EC 2.4.1.2603

External Ids:    HGNC: 193581   Entrez Gene: 790872   Ensembl: ENSG000001828587   OMIM: 6071445   UniProtKB: Q9BV103   

Export aliases for ALG12 gene to outside databases

Previous GC identifers: GC00U990901 GC22M048516 GC22M048617 GC22M048682 GC22M050296 GC22M033243


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ALG12 Gene:
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of 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. Mutations in this gene have been associated
with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ALG12 Gene:
ALG12 (ALG12, alpha-1,6-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG12 include congenital disorder of glycosylation type 1g. GO annotations related to this gene include alpha-1,6-mannosyltransferase activity and dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Function: 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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidALG12 promoter sequence
   Search Chromatin IP Primers for ALG12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 22q13.33

ALG12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG12 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050297:  view genomic region     (about GC identifiers)

Start:
50,293,877 bp from pter      End:
50,312,106 bp from pter
Size:
18,230 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
Sequence caution: Sequence=AAM94900.1; Type=Frameshift; Positions=468;
Secondary accessions: A6PWM1 Q4KMH4 Q8NG10 Q96AA4

Explore the universe of human proteins at neXtProt for ALG12: NX_Q9BV10

Explore proteomics data for ALG12 at MOPED


See ALG12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_077010.1  
ENSEMBL proteins: 
 ENSP00000333813   ENSP00000420630   ENSP00000417387  
Reactome Protein details: Q9BV10

ALG12 Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
Browse OriGene Protein Over-expression Lysates
OriGene Custom MassSpec
OriGene Custom Protein Services for ALG12
GenScript Custom Purified and Recombinant Proteins Services for ALG12
Novus Biologicals ALG12 Protein
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for ALG12

 
Search eBioscience for Proteins for ALG12 

ALG12 Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
OriGene Antibodies for ALG12
OriGene Custom Antibody Services for ALG12
Novus Biologicals ALG12 Antibodies
Search for Antibodies for ALG12 at Abcam
Cloud-Clone Corp. Antibodies for ALG12
Search ThermoFisher Antibodies for ALG12
Search LSBio for Antibodies for ALG12

ALG12 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for ALG12
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for ALG12
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for ALG12
Cloud-Clone Corp. CLIAs for ALG12
Search eBioscience for ELISAs for ALG12 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
HGNC Gene Families:
DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

1 InterPro protein domain:
 IPR005599 GPI_mannosylTrfase

Graphical View of Domain Structure for InterPro Entry Q9BV10

ProtoNet protein and cluster: Q9BV10

UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Similarity: Belongs to the glycosyltransferase 22 family


Find genes that share domains with ALG12           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

     UniProtKB/Swiss-Prot Summary: ALG12_HUMAN, Q9BV10
Function: 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
Catalytic 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): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000009alpha-1,6-mannosyltransferase activity IC12217961
GO:0016757transferase activity, transferring glycosyl groups ----
GO:0052917dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA--
     
Find genes that share ontologies with ALG12           About GenesLikeMe


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG12
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG12

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALG12
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG12

miRNA
Products:
    
miRTarBase miRNAs that target ALG12:
hsa-mir-335-5p (MIRT017824)

Block miRNA regulation of human, mouse, rat ALG12 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate ALG12
SwitchGear 3'UTR luciferase reporter plasmidALG12 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ALG12
Predesigned siRNA for gene silencing in human, mouse, rat ALG12

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for ALG12

Clone
Products:
     
OriGene clones in human, mouse for ALG12 (see all 6)
OriGene ORF clones in 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)
Sino Biological Human cDNA Clone for ALG12
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALG12
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG12

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for ALG12
Browse ESI BIO Cell Lines and PureStem Progenitors for ALG12 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
ALG12_HUMAN, Q9BV10: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum NAS12217961
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with ALG12           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for ALG12 About    
See pathways by source

SuperPathContained pathways About
1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Asparagine N-linked glycosylation0.49
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
N-Glycan biosynthesis0.49
Metabolism of proteins0.30
Post-translational protein modification0.43
2Metabolism
Metabolic pathways0.38


Find genes that share SuperPaths with ALG12           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Reactome Pathway for ALG12
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


2 Kegg Pathways  (Kegg details for ALG12):
    N-Glycan biosynthesis
Metabolic pathways

UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Pathway: Protein modification; protein glycosylation

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG12
Interactions:

    Search GeneGlobe Interaction Network for ALG12

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ALG12 (Q9BV103 ENSP000003338134) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

InteractantInteraction Details
GeneCardExternal ID(s)
HSPA5P110213, ENSP000003241734I2D: score=4 STRING: ENSP00000324173
ALG3Q926853, ENSP000003807934I2D: score=1 STRING: ENSP00000380793
ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
ALG8Q9BVK23, ENSP000002996264I2D: score=1 STRING: ENSP00000299626
DDOSTP396563, ENSP000003641884I2D: score=1 STRING: ENSP00000364188
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006457protein folding NAS12217961
GO:0006487protein N-linked glycosylation IGI12217961
GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
GO:0018279protein N-linked glycosylation via asparagine TAS--
GO:0043687post-translational protein modification TAS--

Find genes that share ontologies with ALG12           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ALG12



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for ALG12 gene: 
NM_024105.3  

Unigene Cluster for ALG12:

ALG12, alpha-1,6-mannosyltransferase
Hs.526711  [show with all ESTs]
Unigene Representative Sequence: NM_024105
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000330817(uc003biy.3) ENST00000486602 ENST00000492791
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat ALG12 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate ALG12
SwitchGear 3'UTR luciferase reporter plasmidALG12 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for ALG12
Predesigned siRNA for gene silencing in human, mouse, rat ALG12
Clone
Products:
     
OriGene clones in human, mouse for ALG12 (see all 6)
OriGene ORF clones in 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
Primer
Products:
    
OriGene qPCR primer pairs and template standards for ALG12
OriGene qSTAR qPCR primer pairs in human, mouse for ALG12
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ALG12
  QuantiTect SYBR Green Assays in human, mouse, rat ALG12
  QuantiFast Probe-based Assays in human, mouse, rat ALG12

Additional mRNA 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 

Selected AceView cDNA sequences (see all 159):

BI029257 BM980308 Z40385 AI378237 BI766537 BC001729 BI517535 AF318343 
AA974371 AJ290427 CD107199 AI598139 BI763987 AJ303120 BM983607 CF132333 
BM924620 F36112 BU688514 BX380067 AF258571 CR456369 NM_024105 BX354635 

GeneLoc Exon Structure

Selected 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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

ALG12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTGGCCCCGG
ALG12 Expression
About this image

ALG12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ALG12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.526711

UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Tissue specificity: Expressed in fibroblasts

    Custom PCR Arrays for ALG12
Primer
Products:
OriGene qPCR primer pairs and template standards for ALG12
OriGene qSTAR qPCR primer pairs in human, mouse for ALG12
Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ALG12
QuantiTect SYBR Green Assays in human, mouse, rat ALG12
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 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

TryGeneCards Plus

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG12 gene from Selected species (see all 18)    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, alpha-1,6-mannosyltransferase) less5
asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase) less1
80(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 homolog (S. cerevisiae) less 63.92(n)
67.63(a)
  417733  NM_001039270.2  NP_001034359.2 
lizard
(Anolis carolinensis)
Reptilia ALG126
ALG12, alpha-1,6-mannosyltransferase
67(a)
1 ↔ 1
GL343277.1(211891-232576)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.45932 Transcribed sequence with weak similarity to protein refNP_077010.1 (H.sapiens) hypothetical protein MGC3136 [Homo sapiens] less 77.97(n)    AL846509.2 
zebrafish
(Danio rerio)
Actinopterygii alg121 asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase) less 61.23(n)
60.52(a)
  569494  NM_001098749.1  NP_001092219.1 
fruit fly
(Drosophila melanogaster)
Insecta CG84121 CG8412 55.45(n)
51.68(a)
  41191  NM_141682.4  NP_649939.1 
worm
(Caenorhabditis elegans)
Secernentea CELE_ZC513.51 CELE_ZC513.5 46.88(n)
40.89(a)
  179185  NM_072670.3  NP_505071.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG12(YNR030W)4 Alpha-1,6-mannosyltransferase localized to the ER; responsible for the addition of the alpha-1,6 mannose to dolichol-linked Man7GlcNAc2, acts in the dolichol pathway for N-glycosylation less   --   14(678799-680454) 855764  NP_014427.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons ALG121 ALG12 48.88(n)
44.14(a)
  5007658  NM_001083979.2  NP_001077448.1 
rice
(Oryza sativa)
Liliopsida Os.381532 Oryza sativa (japonica cultivar-group) cDNA cloneJ023028O16, full insert sequence less 72.8(n)    AK069661.1 


ENSEMBL Gene Tree for ALG12 (if available)
TreeFam Gene Tree for ALG12 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for ALG12 (see all 598)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs289420901,2,,4
CCongenital disorder of glycosylation 1G (CDG1G)4 pathogenic133374870(-) TGATGG/TTCTAC 2 V F mis1 ese30--------
VAR_0179064
Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179062 R Q mis40--------
VAR_0179074
Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179072 L P mis40--------
VAR_0179044
Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179042 T M mis40--------
VAR_0384284
Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0384282 G R mis40--------
rs1219079321,2
C,Fpathogenic133374883(-) CACGCG/AGACAC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5651
rs361494521,2
C,F--33243337(+) TAGTGC/TGTGCA 1 -- ds50012Minor allele frequency- T:0.50NA 4
rs777317371,2
C--33243563(+) TCACAC/TGCACT 1 -- ds50013Minor allele frequency- T:0.04CSA WA NA 240
rs801032231,2
C,F--33243598(+) AGTGAG/AGCTGA 1 -- ds50011Minor allele frequency- A:0.08WA 118
rs771639461,2
C--33243847(+) AGGGTG/TGGGGG 1 -- ut312Minor allele frequency- T:0.01WA EU 699

HapMap Linkage Disequilibrium report for ALG12 (50293877 - 50312106 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for ALG12 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
esv2724721CNV Deletion23290073
esv2669119CNV Deletion23128226
esv2724720CNV Deletion23290073
dgv5050n71CNV Loss21882294
dgv5049n71CNV Loss21882294
nsv915495CNV Loss21882294
nsv915506CNV Loss21882294
nsv471221CNV Loss18288195
dgv5046n71CNV Loss21882294
nsv915508CNV Loss21882294

Human Gene Mutation Database (HGMD): ALG12
Locus Specific Mutation Databases (LSDB): ALG12

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ALG12
DNA2.0 Custom Variant and Variant Library Synthesis for ALG12

(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

TryGeneCards Plus
OMIM gene information: 607144   
OMIM disorders: 607143  
UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
  • Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 1 disease for ALG12:    
    About MalaCards
    congenital disorder of glycosylation type 1g

    1 disease from the University of Copenhagen DISEASES database for ALG12:
    Congenital disorder of glycosylation

    Find genes that share disorders with ALG12           About GenesLikeMe

    GeneTests: ALG12
    GeneReviews: ALG12

    Export disorders for ALG12 gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for ALG12 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with ALG12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (J. Biol. Chem. 2002)
    2. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (PubMed id 12217961)1, 2, 9 Grubenmann C.E....Hennet T. (Hum. Mol. Genet. 2002)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    4. 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. (Genome Res. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. (PubMed id 12736397)1, 2 Zdebska E.... Delaunay J. (Pediatr. Res. 2003)
    7. 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. (Biochem. J. 2002)
    8. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 79087 HGNC: 19358 AceView: ALG12 Ensembl:ENSG00000182858 euGenes: HUgn79087
    ECgene: ALG12 Kegg: 79087 H-InvDB: ALG12

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ALG12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG12[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG12

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ALG12   OriGene RNAi products in human, mouse, rat for ALG12  
     OriGene qPCR primer pairs and template standards for ALG12   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ALG12  
     OriGene qSTAR qPCR primer pairs in human, mouse for ALG12   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ALG12   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ALG12   OriGene Custom Protein Services for ALG12  

     
     
     Block miRNA regulation of human, mouse, rat ALG12 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ALG12
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG12 Predesigned siRNA for gene silencing in human, mouse, rat ALG12
     QuantiFast Probe-based Assays in human, mouse, rat ALG12 QuantiTect SYBR Green Assays in human, mouse, rat ALG12
     Custom PCR Arrays for ALG12 Search Chromatin IP Primers for ALG12
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ALG12  Search GeneGlobe Interaction Network for ALG12
     Regulatory tfbs in ALG12 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ALG12 GenScript cDNA clones with any tag delivered in your preferred vector for ALG12
     GenScript Custom Assay Services for ALG12 GenScript Custom overexpressing Cell Line Services for ALG12
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ALG12
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ALG12
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ALG12 antibodies
     ALG12 proteins
     Search for Antibodies for ALG12 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ALG12
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ALG12
     Antibodies for ALG12
     ELISAs for ALG12
     CLIAs for ALG12



     Browse ESI BIO Cell Lines and PureStem Progenitors for ALG12
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG12
     SwitchGear 3'UTR luciferase reporter plasmids for ALG12
     SwitchGear Promoter luciferase reporter plasmids for ALG12
     Search ThermoFisher Antibodies for ALG12
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALG12
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG12
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALG12
     Search LSBio for Antibodies for ALG12
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ALG12
      Search eBioscience for proteins for ALG12
      Search eBioscience for elisas for ALG12
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ALG12 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4