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Aliases for ALG12 Gene

Aliases for ALG12 Gene

  • ALG12, Alpha-1,6-Mannosyltransferase 2 3 5
  • Asparagine-Linked Glycosylation 12 Homolog (Yeast, Alpha-1,6-Mannosyltransferase) 2 3
  • Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase 2 3
  • Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 12 Homolog 3 4
  • Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase 2 3
  • Mannosyltransferase ALG12 Homolog 3 4
  • Membrane Protein SB87 3 4
  • HALG12 3 4
  • Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae, Alpha-1,6-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog 3
  • Dolichyl-P-Mannose:Man-7-GlcNAc-2-PP-Dolichyl-Alpha-6-Mannosyltransferase 3
  • Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase 3
  • EC 2.4.1.260 4
  • PP14673 3
  • CDG1G 3
  • ECM39 3

External Ids for ALG12 Gene

Previous GeneCards Identifiers for ALG12 Gene

  • GC00U990901
  • GC22M048516
  • GC22M048617
  • GC22M048682
  • GC22M050296
  • GC22M033243
  • GC22M050297
  • GC22M049900

Summaries for ALG12 Gene

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 Ig and Chromosome 17Q12 Deletion Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring glycosyl groups and alpha-1,6-mannosyltransferase activity.

UniProtKB/Swiss-Prot for ALG12 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG12 Gene

Genomics for ALG12 Gene

Regulatory Elements for ALG12 Gene

Enhancers for ALG12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F049942 1.8 FANTOM5 Ensembl ENCODE 36.2 -30.8 -30798 13.5 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 TUBGCP6 ALG12 ENSG00000272836 ENSG00000273192 PIM3 PANX2 DENND6B TRABD CRELD2 ZBED4
GH22F050339 1 ENCODE 49.9 -421.8 -421766 2.1 HDGF ZNF493 ZNF2 KLF7 ZNF488 ZNF264 ZNF585B GLIS1 MYNN NBN ALG12 TUBGCP6 ENSG00000272836 ZBED4 ENSG00000273192 LOC105373095 DENND6B PPP6R2 TRABD
GH22F049957 1.4 Ensembl ENCODE 28.8 -44.6 -44587 11.7 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ALG12 ZBED4 ENSG00000273192 LOC105373095 ENSG00000272836 TRABD PIM3 LOC100420885 LOC101928719 MIR6821
GH22F049932 1.8 FANTOM5 Ensembl ENCODE 21.2 -18.0 -17997 7.1 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ALG12 PIM3 LOC105377205 SELENOO MLC1 CRELD2 PANX2 HDAC10 BRD1 TRABD
GH22F050188 1.5 FANTOM5 ENCODE 22 -272.6 -272622 5.6 HDGF PKNOX1 ARID4B SIN3A YBX1 ZNF2 ZNF143 ZNF263 MCM3 SP3 TUBGCP6 MAPK12 ALG12 ZBED4 ENSG00000272836 HDAC10 LOC105373095 LOC101928719 MAPK11 PLXNB2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG12 on UCSC Golden Path with GeneCards custom track

Promoters for ALG12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000620100 58 2001 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9
ENSR00001844478 -1242 201

Genomic Location for ALG12 Gene

Chromosome:
22
Start:
49,859,147 bp from pter
End:
49,918,458 bp from pter
Size:
59,312 bases
Orientation:
Minus strand

Genomic View for ALG12 Gene

Genes around ALG12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG12 Gene

Proteins for ALG12 Gene

  • Protein details for ALG12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV10-ALG12_HUMAN
    Recommended name:
    Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
    Protein Accession:
    Q9BV10
    Secondary Accessions:
    • A6PWM1
    • Q4KMH4
    • Q8NG10
    • Q96AA4

    Protein attributes for ALG12 Gene

    Size:
    488 amino acids
    Molecular mass:
    54655 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM94900.1; Type=Frameshift; Positions=468; Evidence={ECO:0000305};

neXtProt entry for ALG12 Gene

Post-translational modifications for ALG12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALG12 Gene

No data available for DME Specific Peptides for ALG12 Gene

Domains & Families for ALG12 Gene

Protein Domains for ALG12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV10

UniProtKB/Swiss-Prot:

ALG12_HUMAN :
  • Belongs to the glycosyltransferase 22 family.
Family:
  • Belongs to the glycosyltransferase 22 family.
genes like me logo Genes that share domains with ALG12: view

Function for ALG12 Gene

Molecular function for ALG12 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ALG12 Gene

Gene Ontology (GO) - Molecular Function for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000009 alpha-1,6-mannosyltransferase activity IC 12217961
GO:0000030 mannosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0052917 dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA --
genes like me logo Genes that share ontologies with ALG12: view
genes like me logo Genes that share phenotypes with ALG12: view

Human Phenotype Ontology for ALG12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ALG12 Gene

miRTarBase miRNAs that target ALG12

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALG12 Gene

Localization for ALG12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG12 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG12 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,NAS 12217961
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG12: view

Pathways & Interactions for ALG12 Gene

genes like me logo Genes that share pathways with ALG12: view

UniProtKB/Swiss-Prot Q9BV10-ALG12_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 12217961
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IGI 12217961
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG12: view

No data available for SIGNOR curated interactions for ALG12 Gene

Drugs & Compounds for ALG12 Gene

(2) Additional Compounds for ALG12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • Dolichyl phosphate D-mannose
  • DPM
908211-94-9
genes like me logo Genes that share compounds with ALG12: view

Transcripts for ALG12 Gene

Unigene Clusters for ALG12 Gene

ALG12, alpha-1,6-mannosyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ALG12 Gene

GeneLoc Exon Structure for
ALG12
ECgene alternative splicing isoforms for
ALG12

Expression for ALG12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALG12 Gene

Protein differential expression in normal tissues from HIPED for ALG12 Gene

This gene is overexpressed in Placenta (17.7), Liver (10.9), and Islet of Langerhans (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALG12 Gene



Protein tissue co-expression partners for ALG12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALG12 Gene:

ALG12

SOURCE GeneReport for Unigene cluster for ALG12 Gene:

Hs.526711

mRNA Expression by UniProt/SwissProt for ALG12 Gene:

Q9BV10-ALG12_HUMAN
Tissue specificity: Expressed in fibroblasts.
genes like me logo Genes that share expression patterns with ALG12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ALG12 Gene

Orthologs for ALG12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG12 34 35
  • 98.84 (n)
dog
(Canis familiaris)
Mammalia ALG12 34 35
  • 81.97 (n)
cow
(Bos Taurus)
Mammalia ALG12 34 35
  • 80.84 (n)
mouse
(Mus musculus)
Mammalia Alg12 34 16 35
  • 80 (n)
rat
(Rattus norvegicus)
Mammalia Alg12 34
  • 79.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALG12 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG12 34 35
  • 63.92 (n)
lizard
(Anolis carolinensis)
Reptilia ALG12 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg12 34
  • 61.73 (n)
Str.4593 34
zebrafish
(Danio rerio)
Actinopterygii alg12 34 35
  • 61.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8412 34 35
  • 55.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000102 34
  • 55.17 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_ZC513.5 34
  • 46.88 (n)
ZC513.5 35
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG12 35 37
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ALG12 34
  • 48.88 (n)
rice
(Oryza sativa)
Liliopsida Os04g0544900 34
  • 49.59 (n)
Os.38153 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.578 34
Species where no ortholog for ALG12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALG12 Gene

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

Paralogs for ALG12 Gene

No data available for Paralogs for ALG12 Gene

Variants for ALG12 Gene

Sequence variations from dbSNP and Humsavar for ALG12 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121907931 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143], Pathogenic 49,913,480(-) CAGGA(C/T)GTTCC reference, missense
rs121907932 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143], Pathogenic 49,910,466(-) CACGC(A/G)GACAC reference, missense
rs121907933 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143], Pathogenic 49,910,602(-) TTAGA(A/G)GAGTG reference, missense
rs121907934 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143], Pathogenic 49,910,085(-) AGTCC(C/T)GCTGG reference, missense
rs28942090 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143], Pathogenic 49,910,479(-) TGATG(G/T)TCTAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALG12 Gene

Variant ID Type Subtype PubMed ID
nsv471221 CNV loss 18288195
nsv1152272 CNV duplication 26484159
nsv1123613 CNV deletion 24896259
nsv1111237 CNV tandem duplication 24896259
esv3568489 CNV loss 25503493
esv3558372 CNV deletion 23714750
esv2724721 CNV deletion 23290073
esv2724720 CNV deletion 23290073
esv2669119 CNV deletion 23128226
dgv2480n106 CNV deletion 24896259

Variation tolerance for ALG12 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG12 Gene

Human Gene Mutation Database (HGMD)
ALG12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG12 Gene

Disorders for ALG12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALG12 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ig
  • cdg ig
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ALG12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG12_HUMAN
  • Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A form of congenital disorder of glycosylation, 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. {ECO:0000269 PubMed:11983712, ECO:0000269 PubMed:12736397, ECO:0000269 PubMed:17506107}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALG12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG12
genes like me logo Genes that share disorders with ALG12: view

No data available for Genatlas for ALG12 Gene

Publications for ALG12 Gene

  1. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. (PMID: 11983712) Chantret I. … Moore S.E.H. (J. Biol. Chem. 2002) 2 3 4 64
  2. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (PMID: 12217961) Grubenmann C.E. … Hennet T. (Hum. Mol. Genet. 2002) 3 4 22 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64

Products for ALG12 Gene

Sources for ALG12 Gene

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