This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] See more...

Aliases for ALG9 Gene

Aliases for ALG9 Gene

  • ALG9 Alpha-1,2-Mannosyltransferase 2 3 5
  • Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase 2 3
  • Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase 2 3
  • Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase 3 4
  • Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase 3 4
  • Dol-P-Man Dependent Alpha-1,2-Mannosyltransferase 2 3
  • Asparagine-Linked Glycosylation Protein 9 Homolog 3 4
  • Disrupted In Bipolar Affective Disorder 1 2 3
  • Disrupted In Bipolar Disorder Protein 1 3 4
  • Alpha-1,2-Mannosyltransferase ALG9 3 4
  • DIBD1 3 4
  • Asparagine-Linked Glycosylation 9, Alpha- 1,2-Mannosyltransferase Homolog (S. Cerevisiae, Alpha- 1,2-Mannosyltransferase) 2
  • Asparagine-Linked Glycosylation 9 Homolog (S. Cerevisiae, Alpha- 1,2-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha- 1,2-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha 1,2 Mannosyltransferase) 2
  • Asparagine-Linked Glycosylation 9 Alpha-12-Mannosyltransferase-Like Protein 3
  • Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog 3
  • Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product 3
  • EC 2.4.1.259 4
  • EC 2.4.1.261 4
  • LOH11CR1J 3
  • GIKANIS 3
  • CDG1L 3
  • ALG9 5

External Ids for ALG9 Gene

Previous HGNC Symbols for ALG9 Gene

  • DIBD1

Previous GeneCards Identifiers for ALG9 Gene

  • GC11M111162
  • GC11M111652
  • GC11M111782

Summaries for ALG9 Gene

Entrez Gene Summary for ALG9 Gene

  • This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for ALG9 Gene

ALG9 (ALG9 Alpha-1,2-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG9 include Congenital Disorder Of Glycosylation, Type Il and Gillessen-Kaesbach-Nishimura Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity. An important paralog of this gene is ENSG00000258529.

UniProtKB/Swiss-Prot Summary for ALG9 Gene

  • Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.

Gene Wiki entry for ALG9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALG9 Gene

Genomics for ALG9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALG9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J111870 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 272 2.2 CTCF PRDM10 IKZF1 ZNF692 BACH1 FOXA1 LARP7 ZNF143 PHF21A PKNOX1 ALG9 lnc-C11orf1-1 C11orf1 PPP2R1B DIXDC1 HSPB2 HSPB2-C11orf52 C11orf52 CRYAB NKAPD1
GH11J111844 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 612.2 +25.2 25216 3.1 POLR2A JUND CEBPB FOS MAFK FEZF1 ATF3 ZBTB12 MYC MAX ALG9 RF00017-1025 lnc-FDXACB1-3 PPP2R1B SIK2 FDXACB1 C11orf1 ENSG00000254980 GNG5P3 lnc-ALG9-3
GH11J111814 Promoter/Enhancer 1 EPDnew Ensembl ENCODE dbSUPER 600.2 +56.6 56599 1.6 MEIS2 SMARCA4 ALG9 PPP2R1B ENSG00000254980 RF02543-013 lnc-SIK2-2 lnc-ALG9-3 ENSG00000258529
GH11J111840 Promoter/Enhancer 0.8 EPDnew dbSUPER 600.3 +30.9 30884 0.1 ZGPAT THAP11 DMAP1 MBD1 KLF16 ATF3 CREB1 ALG9 RF00017-1025 lnc-FDXACB1-3 ALG9-IT1 ENSG00000258529 lnc-ALG9-3 PPP2R1B
GH11J111857 Promoter 0.3 EPDnew 600.4 +13.9 13925 0.1 ALG9 C11orf1 FDXACB1 PPP2R1B C11orf52 CRYAB DIXDC1 LAYN GNG5P3 lnc-FDXACB1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALG9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALG9

Top Transcription factor binding sites by QIAGEN in the ALG9 gene promoter:
  • Gfi-1
  • Nkx2-2
  • Nkx2-5
  • POU2F1
  • POU2F1a

Genomic Locations for ALG9 Gene

Genomic Locations for ALG9 Gene
chr11:111,776,096-111,871,581
(GRCh38/hg38)
Size:
95,486 bases
Orientation:
Minus strand
chr11:111,652,919-111,742,305
(GRCh37/hg19)
Size:
89,387 bases
Orientation:
Minus strand

Genomic View for ALG9 Gene

Genes around ALG9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG9 Gene

Proteins for ALG9 Gene

  • Protein details for ALG9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6U8-ALG9_HUMAN
    Recommended name:
    Alpha-1,2-mannosyltransferase ALG9
    Protein Accession:
    Q9H6U8
    Secondary Accessions:
    • Q6ZMD5
    • Q7Z4R4
    • Q96GS7
    • Q96PB9
    • Q9H068

    Protein attributes for ALG9 Gene

    Size:
    611 amino acids
    Molecular mass:
    69863 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALG9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG9 Gene

Post-translational modifications for ALG9 Gene

  • Glycosylation at Asn77 and Asn593
  • Ubiquitination at Lys49, Lys63, and Lys470
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALG9 Gene

Domains & Families for ALG9 Gene

Gene Families for ALG9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALG9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG9 Gene

GenScript: Design optimal peptide antigens:
  • Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (ALG9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6U8

UniProtKB/Swiss-Prot:

ALG9_HUMAN :
  • Belongs to the glycosyltransferase 22 family.
Family:
  • Belongs to the glycosyltransferase 22 family.
genes like me logo Genes that share domains with ALG9: view

Function for ALG9 Gene

Molecular function for ALG9 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl beta-D-mannosyl phosphate = alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H(+); Xref=Rhea:RHEA:29531, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:12628, Rhea:RHEA-COMP:12629, ChEBI:CHEBI:15378, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:132516, ChEBI:CHEBI:132517; EC=2.4.1.259; Evidence={ECO:0000269|PubMed:15148656, ECO:0000269|PubMed:15945070};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl beta-D-mannosyl phosphate = alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H(+); Xref=Rhea:RHEA:29539, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:12630, Rhea:RHEA-COMP:12631, ChEBI:CHEBI:15378, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:132519, ChEBI:CHEBI:132520; EC=2.4.1.261; Evidence={ECO:0000269|PubMed:15148656, ECO:0000269|PubMed:15945070};.

Enzyme Numbers (IUBMB) for ALG9 Gene

Phenotypes From GWAS Catalog for ALG9 Gene

Gene Ontology (GO) - Molecular Function for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000026 alpha-1,2-mannosyltransferase activity TAS --
GO:0000030 mannosyltransferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0052918 dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA --
genes like me logo Genes that share ontologies with ALG9: view
genes like me logo Genes that share phenotypes with ALG9: view

Human Phenotype Ontology for ALG9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ALG9

CRISPR Products

miRNA for ALG9 Gene

miRTarBase miRNAs that target ALG9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG9

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALG9 Gene

Localization for ALG9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG9 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 ALG9 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG9: view

Pathways & Interactions for ALG9 Gene

genes like me logo Genes that share pathways with ALG9: view

UniProtKB/Swiss-Prot Q9H6U8-ALG9_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ALG9 Gene

Gene Ontology (GO) - Biological Process for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IBA 21873635
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG9: view

No data available for SIGNOR curated interactions for ALG9 Gene

Drugs & Compounds for ALG9 Gene

(2) Additional Compounds for ALG9 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
  • DPM
908211-94-9
genes like me logo Genes that share compounds with ALG9: view

Transcripts for ALG9 Gene

mRNA/cDNA for ALG9 Gene

19 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG9

Alternative Splicing Database (ASD) splice patterns (SP) for ALG9 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: -
SP11: - - -
SP12:

Relevant External Links for ALG9 Gene

GeneLoc Exon Structure for
ALG9

Expression for ALG9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALG9 Gene

Protein differential expression in normal tissues from HIPED for ALG9 Gene

This gene is overexpressed in Pancreas (16.9), Testis (14.0), Placenta (10.3), and Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG9 Gene



Protein tissue co-expression partners for ALG9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALG9

SOURCE GeneReport for Unigene cluster for ALG9 Gene:

Hs.745155

mRNA Expression by UniProt/SwissProt for ALG9 Gene:

Q9H6U8-ALG9_HUMAN
Tissue specificity: Ubiquitously expressed; with highest levels in heart, liver and pancreas.

Evidence on tissue expression from TISSUES for ALG9 Gene

  • Muscle(4.3)
  • Nervous system(4.3)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with ALG9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ALG9 Gene

Orthologs for ALG9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ALG9 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALG9 30 31
  • 92.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALG9 30 31
  • 92.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Alg9 30
  • 88.77 (n)
Mouse
(Mus musculus)
Mammalia Alg9 30 17 31
  • 87.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ALG9 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALG9 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ALG9 30 31
  • 75.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALG9 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia alg9 30
  • 73.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii alg9 30 31
  • 70.3 (n)
OneToOne
zgc63820 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG11851 30 31
  • 50.75 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003601 30
  • 48.98 (n)
Worm
(Caenorhabditis elegans)
Secernentea C14A4.3 30 31
  • 48.99 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19404g 30
  • 49.35 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG9 30 31
  • 49.01 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL185C 30
  • 46.16 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G16900 30
  • 45.42 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0209000 30
  • 46.33 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04454 30
  • 50 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg9 30
  • 46.75 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14006 30
Species where no ortholog for ALG9 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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 ALG9 Gene

ENSEMBL:
Gene Tree for ALG9 (if available)
TreeFam:
Gene Tree for ALG9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALG9: view image

Paralogs for ALG9 Gene

Paralogs for ALG9 Gene

(1) SIMAP similar genes for ALG9 Gene using alignment to 5 proteins:

  • ALG9_HUMAN
  • H0YCW6_HUMAN
  • H0YEX8_HUMAN
  • H0YF48_HUMAN
  • H3BSC6_HUMAN
genes like me logo Genes that share paralogs with ALG9: view

Variants for ALG9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALG9 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
631493 Pathogenic: Polycystic liver disease; Polycystic kidney disease, adult type 111,840,719(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
631494 Pathogenic: Polycystic kidney disease, adult type 111,857,622(-) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
638633 Benign: Polycystic liver disease 111,844,675(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
638634 Benign: Polycystic liver disease 111,836,217(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638635 Benign: Polycystic liver disease 111,853,436(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ALG9 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALG9 Gene

Variant ID Type Subtype PubMed ID
nsv492 CNV insertion 18451855
nsv832269 CNV loss 17160897

Variation tolerance for ALG9 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALG9 Gene

Human Gene Mutation Database (HGMD)
ALG9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG9 Gene

Disorders for ALG9 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ALG9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ALG9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG9_HUMAN
  • Note=A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. {ECO:0000269 PubMed:12030331}.
  • Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]: 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:15148656, ECO:0000269 PubMed:15945070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) [MIM:263210]: A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. {ECO:0000269 PubMed:25966638}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALG9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALG9: view

No data available for Genatlas for ALG9 Gene

Publications for ALG9 Gene

  1. Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. (PMID: 16859551) Baysal BE … Nimgaonkar VL (Behavioral and brain functions : BBF 2006) 3 4 23 41
  2. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. (PMID: 15148656) Frank CG … Hennet T (American journal of human genetics 2004) 2 3 4 23
  3. A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. (PMID: 12030331) Baysal BE … Detera-Wadleigh SD (Neurogenetics 2002) 2 3 4 23
  4. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. (PMID: 15945070) Weinstein M … Poplawski N (American journal of medical genetics. Part A 2005) 3 4 23
  5. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. (PMID: 25966638) Tham E … Grigelioniene G (European journal of human genetics : EJHG 2016) 3 4

Products for ALG9 Gene

  • Signalway Proteins for ALG9

Sources for ALG9 Gene