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This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identi... See more...
Aliases for ALG14 Gene
Aliases for ALG14 Gene
External Ids for ALG14 Gene
- HGNC: 28287
- Entrez Gene: 199857
- Ensembl: ENSG00000172339
- OMIM: 612866
- UniProtKB: Q96F25
Previous GeneCards Identifiers for ALG14 Gene
- GC01M095161
- GC01M095449
- GC01M093570
Summaries for ALG14 Gene
-
This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
GeneCards Summary for ALG14 Gene
ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit) is a Protein Coding gene. Diseases associated with ALG14 include Myasthenic Syndrome, Congenital, 15 and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis.
UniProtKB/Swiss-Prot Summary for ALG14 Gene
-
May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.
Additional gene information for ALG14 Gene
- Monarch Initiative
- Search for ALG14 at DataMed
- Search for ALG14 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALG14 Gene
Genomics for ALG14 Gene
GeneHancer (GH) Regulatory Elements for ALG14 Gene
Promoters and enhancers for ALG14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ALG14 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ALG14 gene promoter:
-
- Evi-1
- FOXO4
- HNF-3beta
- HOXA9
- HOXA9B
- LyF-1
- Meis-1
- Meis-1b
- Nkx2-5
- p300
Genomic Locations for ALG14 Gene
Genomic Locations for ALG14 Gene
- chr1:94,974,405-95,072,964
- (GRCh38/hg38)
- Size:
- 98,560 bases
- Orientation:
- Minus strand
- chr1:95,439,963-95,538,507
- (GRCh37/hg19)
- Size:
- 98,545 bases
- Orientation:
- Minus strand
Genomic View for ALG14 Gene
Genes around ALG14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p21.3 by HGNC
- 1p21.3 by Entrez Gene
- 1p21.3 by Ensembl
ALG14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ALG14 Gene
Proteins for ALG14 Gene
-
Protein details for ALG14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96F25-ALG14_HUMAN
- Recommended name:
- UDP-N-acetylglucosamine transferase subunit ALG14 homolog
- Protein Accession:
- Q96F25
- A8K030
Protein attributes for ALG14 Gene
- Size:
- 216 amino acids
- Molecular mass:
- 24151 Da
- Quaternary structure:
-
- Heterodimer with ALG13 isoform 2 to form a functional enzyme.
Protein Expression for ALG14 Gene
Post-translational modifications for ALG14 Gene
Other Protein References for ALG14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-ALG14 Antibody
- Creative Diagnostics Anti-ALG14 (aa 73-102) polyclonal antibody
- Novus Biologicals Antibodies for ALG14
- Invitrogen Antibodies for ALG14 (AFLGC-ALG14)
Protein Products
- Atlas Antibodies PrEST Antigen ALG14
- Creative Biomart Recombinant Human ALG14 293 Cell Lysate
-
OriGene Purified Proteins for ALG14
- Search Origene for MassSpec and Protein Over-expression Lysates for ALG14
- Origene Custom Protein Services for ALG14
- antibodies-online: Show 4 available ALG14 Proteins ranked by validation data
- Compare Top ALG14 Proteins
-
Quality Products:
No data available for DME Specific Peptides for ALG14 Gene
Domains & Families for ALG14 Gene
Gene Families for ALG14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for ALG14 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALG14 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-N-acetylglucosamine transferase subunit ALG14 homolog (ALG14_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96F25- Family:
-
- Belongs to the ALG14 family.
Function for ALG14 Gene
Molecular function for ALG14 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.
Phenotypes From GWAS Catalog for ALG14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004577 | contributes_to N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity | IBA | 21873635 |
Phenotypes for ALG14 Gene
- MGI mutant phenotypes for ALG14:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ALG14:
Animal Models for ALG14 Gene
- MGI Knock Outs for ALG14:
-
- Alg14 Alg14<tm2b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for ALG14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG14
- genomics-online: gRNA clones - Search for available ALG14 gRNA products
- Overview of 135 available ALG14 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ALG14 - Select products 50% OFF >
- * ALG14 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ALG14 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG14
miRNA for ALG14 Gene
- miRTarBase miRNAs that target ALG14
-
- hsa-mir-606 (MIRT348788)
- hsa-mir-4477a (MIRT441824)
- hsa-mir-506-3p (MIRT441825)
- hsa-mir-124-3p (MIRT441826)
- hsa-mir-496 (MIRT441827)
- hsa-mir-4742-3p (MIRT441828)
- hsa-mir-3664-5p (MIRT441829)
- hsa-mir-4714-5p (MIRT441830)
- hsa-mir-514a-5p (MIRT441831)
- hsa-mir-4753-5p (MIRT441832)
- hsa-mir-8055 (MIRT445870)
- hsa-mir-526b-5p (MIRT445871)
- hsa-mir-3157-5p (MIRT445872)
- hsa-mir-4468 (MIRT445873)
- hsa-mir-205-3p (MIRT445874)
- hsa-mir-7161-3p (MIRT445875)
- hsa-mir-4314 (MIRT560441)
- hsa-mir-7-5p (MIRT560442)
- hsa-mir-1253 (MIRT560443)
- hsa-mir-6859-5p (MIRT560444)
- hsa-mir-3916 (MIRT560445)
- hsa-mir-3125 (MIRT560446)
- hsa-mir-5197-3p (MIRT560447)
- hsa-mir-6807-5p (MIRT571061)
- hsa-mir-582-5p (MIRT571062)
- hsa-mir-101-3p (MIRT571063)
- hsa-mir-4676-5p (MIRT571064)
- hsa-mir-575 (MIRT571065)
- hsa-mir-4735-3p (MIRT571066)
- hsa-mir-18b-5p (MIRT571067)
- hsa-mir-18a-5p (MIRT571068)
- hsa-mir-7703 (MIRT660724)
- hsa-mir-500a-3p (MIRT660725)
- hsa-mir-6720-5p (MIRT660726)
- hsa-mir-6512-3p (MIRT660727)
- hsa-mir-6729-5p (MIRT660728)
- hsa-mir-4649-5p (MIRT660729)
- hsa-mir-6717-5p (MIRT660730)
- hsa-mir-661 (MIRT660731)
- hsa-mir-767-5p (MIRT660732)
- hsa-mir-8082 (MIRT660733)
- hsa-mir-4534 (MIRT660734)
- hsa-mir-5186 (MIRT660735)
- hsa-mir-4486 (MIRT660736)
- hsa-mir-4793-3p (MIRT660737)
- hsa-mir-766-3p (MIRT660738)
- hsa-mir-939-3p (MIRT660739)
- hsa-mir-6849-3p (MIRT660740)
- hsa-mir-1273g-3p (MIRT660741)
- hsa-mir-92b-3p (MIRT660742)
- hsa-mir-92a-3p (MIRT660743)
- hsa-mir-367-3p (MIRT660744)
- hsa-mir-363-3p (MIRT660745)
- hsa-mir-32-5p (MIRT660746)
- hsa-mir-25-3p (MIRT660747)
- hsa-mir-508-5p (MIRT660748)
- hsa-mir-5698 (MIRT669539)
- hsa-mir-4659b-5p (MIRT669540)
- hsa-mir-4659a-5p (MIRT669541)
- hsa-mir-7641 (MIRT669542)
- hsa-mir-143-5p (MIRT669543)
- hsa-mir-6879-3p (MIRT669544)
- hsa-mir-4430 (MIRT669545)
- hsa-mir-3652 (MIRT669546)
- hsa-mir-122-5p (MIRT669547)
- hsa-mir-504-3p (MIRT669548)
- hsa-mir-3135b (MIRT669549)
- hsa-mir-6499-3p (MIRT669550)
- hsa-mir-4695-3p (MIRT669551)
- hsa-mir-215-3p (MIRT669552)
- hsa-mir-6773-3p (MIRT669553)
- hsa-mir-500b-3p (MIRT669554)
- hsa-mir-6858-5p (MIRT705760)
- hsa-mir-4689 (MIRT705761)
- hsa-mir-4710 (MIRT705762)
- hsa-mir-139-3p (MIRT705763)
- hsa-mir-7854-3p (MIRT705764)
- hsa-mir-4784 (MIRT705765)
- hsa-mir-3150b-3p (MIRT705766)
- hsa-mir-1273f (MIRT705767)
- hsa-mir-4786-5p (MIRT705768)
- hsa-mir-664a-5p (MIRT705769)
- hsa-mir-4794 (MIRT705770)
- hsa-mir-8073 (MIRT705771)
- hsa-mir-221-5p (MIRT705772)
- hsa-mir-4793-5p (MIRT705773)
- hsa-mir-1288-5p (MIRT705774)
- hsa-mir-3681-3p (MIRT705775)
- hsa-mir-216a-3p (MIRT705776)
- hsa-mir-128-3p (MIRT705777)
- hsa-mir-6888-5p (MIRT705778)
- hsa-mir-6502-3p (MIRT705779)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ALG14
- Browse OriGene Inhibitory RNA Products For ALG14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG14
- genomics-online: shRNA clones - Search for available ALG14 shRNA products
- Overview of 135 available ALG14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALG14
- Addgene plasmids for ALG14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG14
- genomics-online: cdna clones - Search for available ALG14 CDNA products
- Overview of 135 available ALG14 gene related products
- orf clones - Search for available ALG14 ORF products
- Overview of 135 available ALG14 gene related products
- Applied Biological Materials (abm): Clones for ALG14 - Select products 50% OFF >
- * ALG14 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ALG14 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALG14 Gene
Localization for ALG14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALG14 Gene
- Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
| cytosol | 1 |
| extracellular | 0 |
- Nucleoli (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ALG14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | N-Glycan biosynthesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Transport to the Golgi and subsequent modification | ||
| 5 | Synthesis of substrates in N-glycan biosythesis | ||
Pathways by source for ALG14 Gene
3 KEGG pathways for ALG14 Gene
Interacting Proteins for ALG14 Gene
GPS-Prot Interaction Network for ALG14
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | IBA,TAS | -- |
No data available for SIGNOR curated interactions for ALG14 Gene
Drugs & Compounds for ALG14 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen ALG14
- Creative Biomart Recombinant Human ALG14 293 Cell Lysate
Transcripts for ALG14 Gene
mRNA/cDNA for ALG14 Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (173) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000370205 9375 bps (ENST00000370205.5)
- ENST00000507727 159 bps (ENST00000507727.2)
- ENST00000495856 446 bps (ENST00000495856.1)
CRISPR Products
-
OriGene CRISPR knockouts for ALG14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALG14
- genomics-online: gRNA clones - Search for available ALG14 gRNA products
- Overview of 135 available ALG14 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ALG14 - Select products 50% OFF >
- * ALG14 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ALG14 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALG14
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ALG14
- Browse OriGene Inhibitory RNA Products For ALG14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALG14
- genomics-online: shRNA clones - Search for available ALG14 shRNA products
- Overview of 135 available ALG14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ALG14
- Addgene plasmids for ALG14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALG14
- genomics-online: cdna clones - Search for available ALG14 CDNA products
- Overview of 135 available ALG14 gene related products
- orf clones - Search for available ALG14 ORF products
- Overview of 135 available ALG14 gene related products
- Applied Biological Materials (abm): Clones for ALG14 - Select products 50% OFF >
- * ALG14 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ALG14 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||
| SP3: |
Expression for ALG14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Nasal epithelium (66.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG14 Gene
NURSA nuclear receptor signaling pathways regulating expression of ALG14 Gene:
ALG14SOURCE GeneReport for Unigene cluster for ALG14 Gene:
Hs.408927Evidence on tissue expression from TISSUES for ALG14 Gene
- Pancreas(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG14 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- head
- neck
Thorax:
- lung
- rib
- rib cage
Abdomen:
- kidney
Pelvis:
- pelvis
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ALG14
-
OriGene qPCR primer pairs and template standards for ALG14
- genomics-online: primer clones - Search for available ALG14 Primer products
- Overview of 135 available ALG14 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALG14 Gene
Orthologs for ALG14 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALG14 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ALG14 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Alg14 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Alg14 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ALG14 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ALG14 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ALG14 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ALG14 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ALG14 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | alg14 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | alg14 33 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003461 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6308 33 32 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | hpo-16 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG14 35 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G18230 32 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg14 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
- Species where no ortholog for ALG14 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)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- 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 ALG14 Gene
- ENSEMBL:
- Gene Tree for ALG14 (if available)
- TreeFam:
- Gene Tree for ALG14 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALG14: view image
Paralogs for ALG14 Gene
No data available for Paralogs for ALG14 Gene
Variants for ALG14 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11165298 | likely-benign, Myasthenic syndrome, congenital, 15, - | 95,072,859(-) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1156822888 | uncertain-significance, Myasthenic syndrome, congenital, 15 | 95,072,813(-) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs138996965 | uncertain-significance, Myasthenic syndrome, congenital, 15 | 95,064,972(-) | T/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs139521179 | uncertain-significance, likely-benign, not provided, Myasthenic syndrome, congenital, 15 | 95,072,786(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs141065009 | benign, Myasthenic syndrome, congenital, 15 | 95,064,983(-) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv57n67 | CNV | loss | 20364138 |
| esv1116942 | CNV | insertion | 17803354 |
| esv2670670 | CNV | deletion | 23128226 |
| esv3578014 | CNV | loss | 25503493 |
| esv3586846 | CNV | loss | 21293372 |
| esv5799 | CNV | loss | 19470904 |
| esv993631 | CNV | insertion | 20482838 |
| nsv1142064 | CNV | tandem duplication | 24896259 |
| nsv1152666 | CNV | insertion | 26484159 |
| nsv498675 | CNV | loss | 21111241 |
| nsv513994 | CNV | loss | 21397061 |
| nsv830636 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.75;
15.82% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALG14 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG14 Gene
Disorders for ALG14 Gene
(3) MalaCards diseases for ALG14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myasthenic syndrome, congenital, 15 |
|
|
| congenital myasthenic syndromes with glycosylation defect |
|
|
| congenital myasthenic syndrome |
|
|
Search ALG14 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ALG14_HUMAN- Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. {ECO:0000269 PubMed:23404334}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ALG14
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ALG14 Gene
Publications for ALG14 Gene
- Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (PMID: 23404334) Cossins J … Beeson D (Brain : a journal of neurology 2013) 2 3 4 56
- Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 43 56
- Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation. (PMID: 16100110) Gao XD … Dean N (The Journal of biological chemistry 2005) 3 4 56
- Two proteins homologous to the N- and C-terminal domains of the bacterial glycosyltransferase Murg are required for the second step of dolichyl-linked oligosaccharide synthesis in Saccharomyces cerevisiae. (PMID: 15615718) Chantret I … Moore SE (The Journal of biological chemistry 2005) 2 3 56
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
ExternalLinks
Products for ALG14 Gene
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- antibodies-online: Show 8 available ALG14 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search for available ALG14 CDNA products
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Sources for ALG14 Gene
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