Aliases for VAC14 Gene
Aliases for VAC14 Gene
External Ids for VAC14 Gene
- HGNC: 25507
- Entrez Gene: 55697
- Ensembl: ENSG00000103043
- OMIM: 604632
- UniProtKB: Q08AM6
Previous HGNC Symbols for VAC14 Gene
- TAX1BP2
Previous GeneCards Identifiers for VAC14 Gene
- GC16M069280
- GC16M070721
- GC16M056552
Summaries for VAC14 Gene
-
This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
GeneCards Summary for VAC14 Gene
VAC14 (Vac14, PIKFYVE Complex Component) is a Protein Coding gene. Diseases associated with VAC14 include Striatonigral Degeneration, Childhood-Onset and Yunis-Varon Syndrome. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include binding and receptor activity.
UniProtKB/Swiss-Prot for VAC14 Gene
-
The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.
Additional gene information for VAC14 Gene
- Monarch Initiative
- Search for VAC14 at DataMed
- Search for VAC14 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VAC14 Gene
Genomics for VAC14 Gene
GeneHancer (GH) Regulatory Elements for VAC14 Gene
Promoters and enhancers for VAC14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around VAC14 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for VAC14 Gene
Genomic Locations for VAC14 Gene
- chr16:70,687,439-70,801,166
- (GRCh38/hg38)
- Size:
- 113,728 bases
- Orientation:
- Minus strand
- chr16:70,721,342-70,835,064
- (GRCh37/hg19)
Genomic View for VAC14 Gene
Genes around VAC14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q22.2 by Ensembl
- 16q22.1-q22.2 by Entrez Gene
- 16q22.1-q22.2 by HGNC
VAC14 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 VAC14 Gene
Proteins for VAC14 Gene
-
Protein details for VAC14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q08AM6-VAC14_HUMAN
- Recommended name:
- Protein VAC14 homolog
- Protein Accession:
- Q08AM6
- B3KPJ5
- B3KSM8
- Q13174
- Q6IA12
- Q7L4Y1
- Q9BW96
- Q9H6V6
Protein attributes for VAC14 Gene
- Size:
- 782 amino acids
- Molecular mass:
- 87973 Da
- Quaternary structure:
-
- Forms homooligomers. Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Interacts with NOS1. Interacts with HTLV-1 Tax.
- SequenceCaution:
-
- Sequence=AAB03813.1; Type=Miscellaneous discrepancy; Note=Unknown C-terminal region.; Evidence={ECO:0000305}; Sequence=BAB15145.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for VAC14 Gene
Post-translational modifications for VAC14 Gene
No Post-translational modifications
Other Protein References for VAC14 Gene
Antibody Products
- Novus Biologicals Antibodies for VAC14
-
Abcam antibodies for VAC14
- Invitrogen Antibodies for VAC14
- Search GeneTex for Antibodies for VAC14
-
Santa Cruz Biotechnology (SCBT) Antibodies for VAC14
Protein Products
-
OriGene Purified Proteins for VAC14
- Search Origene for MassSpec and Protein Over-expression Lysates for VAC14
- Origene Custom Protein Services for VAC14
- Search GeneTex for Proteins for VAC14
-
Abcam proteins for VAC14
Assay Products
No data available for DME Specific Peptides for VAC14 Gene
Domains & Families for VAC14 Gene
Gene Families for VAC14 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for VAC14 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for VAC14 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q08AM6UniProtKB/Swiss-Prot:
VAC14_HUMAN :- The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex.
- Belongs to the VAC14 family.
- Domain:
-
- The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex.
- Family:
-
- Belongs to the VAC14 family.
Function for VAC14 Gene
Molecular function for VAC14 Gene
- UniProtKB/Swiss-Prot Function:
- The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.
Phenotypes From GWAS Catalog for VAC14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004872 | receptor activity | NAS | 8611628 |
| GO:0005515 | protein binding | IPI | 17161399 |
Phenotypes for VAC14 Gene
- MGI mutant phenotypes for VAC14:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for VAC14:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for VAC14
-
-
ViGene Biosciences lentiviral particle packaged cDNA for VAC14 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VAC14 gene
- Search ViGene Biosciences for VAC14
CRISPR Products
-
OriGene CRISPR knockouts for VAC14
- genomics-online: gRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- Applied Biological Materials CRISPR for VAC14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VAC14
- GenScript: Design CRISPR guide RNA sequences for VAC14
miRNA for VAC14 Gene
- miRTarBase miRNAs that target VAC14
-
- hsa-mir-429 (MIRT016639)
- hsa-mir-200a-3p (MIRT020349)
- hsa-mir-200c-3p (MIRT021072)
- hsa-mir-141-3p (MIRT021651)
- hsa-mir-200b-3p (MIRT024128)
- hsa-mir-589-5p (MIRT037789)
- hsa-mir-423-5p (MIRT038068)
- hsa-mir-30c-2-3p (MIRT038701)
- hsa-mir-377-3p (MIRT439317)
- hsa-mir-3941 (MIRT542377)
- hsa-mir-381-3p (MIRT542378)
- hsa-mir-6768-5p (MIRT542379)
- hsa-mir-300 (MIRT542380)
- hsa-mir-603 (MIRT542381)
- hsa-mir-362-3p (MIRT542382)
- hsa-mir-8485 (MIRT542383)
- hsa-mir-329-3p (MIRT542384)
- hsa-mir-6882-5p (MIRT542385)
- hsa-mir-124-5p (MIRT611997)
- hsa-mir-5689 (MIRT675653)
miRNA Products
- Search ViGene Biosciences for VAC14
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VAC14
- Browse OriGene Inhibitory RNA Products For VAC14
- genomics-online: shRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VAC14 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VAC14
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VAC14
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for VAC14
- Applied Biological Materials Clones for VAC14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for VAC14
-
ViGene Biosciences adenoviral particle packaged cDNA for VAC14 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for VAC14 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VAC14 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for VAC14 Gene
Localization for VAC14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for VAC14 Gene
- Endosome membrane. Microsome membrane. Note=Mainly associated with membranes of the late endocytic pathway.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| golgi apparatus | 4 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| lysosome | 2 |
- Cytosol (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0010008 | endosome membrane | IEA,IDA | 17556371 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for VAC14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | PI Metabolism |
.63
|
|
| 2 | Metabolism |
.37
|
|
| 3 | HTLV-I infection | ||
| 4 | Viral carcinogenesis | ||
| 5 | Glycerophospholipid biosynthesis | ||
Pathways by source for VAC14 Gene
7 Reactome pathways for VAC14 Gene
2 KEGG pathways for VAC14 Gene
Interacting Proteins for VAC14 Gene
Selected Interacting proteins:
ENSP00000261776
Q08AM6-VAC14_HUMAN
for VAC14 Gene via
STRING
IID
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0007165 | signal transduction | NAS | 8611628 |
| GO:0016032 | viral process | IEA | -- |
| GO:0043550 | regulation of lipid kinase activity | IEA | -- |
No data available for SIGNOR curated interactions for VAC14 Gene
Drugs & Compounds for VAC14 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Docetaxel | Approved May 1996, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2040 |
Transcripts for VAC14 Gene
mRNA/cDNA for VAC14 Gene
- (9) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (258) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for VAC14 Gene
CRISPR Products
-
OriGene CRISPR knockouts for VAC14
- genomics-online: gRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- Applied Biological Materials CRISPR for VAC14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VAC14
- GenScript: Design CRISPR guide RNA sequences for VAC14
miRNA Products
- Search ViGene Biosciences for VAC14
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VAC14
- Browse OriGene Inhibitory RNA Products For VAC14
- genomics-online: shRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VAC14 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VAC14
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VAC14
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for VAC14
- Applied Biological Materials Clones for VAC14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 18 | ^ | 19 | ^ | 20a | · | 20b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: |
Expression for VAC14 Gene
This gene is overexpressed in Bone (32.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VAC14 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of VAC14 Gene:
VAC14SOURCE GeneReport for Unigene cluster for VAC14 Gene:
Hs.445061mRNA Expression by UniProt/SwissProt for VAC14 Gene:
Q08AM6-VAC14_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for VAC14 Gene
- Nervous system(4.7)
- Lung(4.3)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for VAC14
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VAC14 Gene
Orthologs for VAC14 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | VAC14 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | VAC14 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | VAC14 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Vac14 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Vac14 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | VAC14 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | VAC14 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | VAC14 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | VAC14 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | vac14 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vac14 33 34 |
|
||
| wufb68e05 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000770 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5608 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K04G2.6 33 |
|
||
| vacl-14 34 |
|
OneToOne | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER049W 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VAC14 33 34 36 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E05193g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G01690 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0223700 33 |
|
||
| Os.11686 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02409 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10719 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC25H2.03 33 |
|
- Species where no ortholog for VAC14 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)
Paralogs for VAC14 Gene
(1) SIMAP similar genes for VAC14 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for VAC14 Gene
No data available for Paralogs for VAC14 Gene
Variants for VAC14 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060499667 | uncertain-significance, Yunis Varon syndrome | 70,697,199(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs749094914 | pathogenic, Striatonigral degeneration, childhood-onset, Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054] | 70,698,729(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs762388639 | pathogenic, Striatonigral degeneration, childhood-onset, Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054] | 70,762,915(-) | C/A | coding_sequence_variant, missense_variant | |
| rs769608639 | uncertain-significance, Yunis Varon syndrome | 70,781,892(-) | A/T | coding_sequence_variant, stop_gained | |
| rs879255555 | pathogenic, Striatonigral degeneration, childhood-onset | 70,744,422(-) | C/T | splice_donor_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758653 | CNV | gain | 17122850 |
| esv3892881 | CNV | gain | 25118596 |
| nsv1059226 | CNV | gain | 25217958 |
| nsv471094 | CNV | loss | 18288195 |
| nsv475686 | CNV | novel sequence insertion | 20440878 |
| nsv517391 | CNV | loss | 19592680 |
| nsv572945 | CNV | gain | 21841781 |
| nsv572946 | CNV | loss | 21841781 |
| nsv572947 | CNV | loss | 21841781 |
| nsv572948 | CNV | loss | 21841781 |
| nsv7285 | OTHER | inversion | 18451855 |
Residual Variation Intolerance Score:
6.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.21;
39.93% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for VAC14 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAC14 Gene
Disorders for VAC14 Gene
(6) MalaCards diseases for VAC14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| striatonigral degeneration, childhood-onset |
|
|
| yunis-varon syndrome |
|
|
| striatonigral degeneration |
|
|
| charcot-marie-tooth disease, type 4j |
|
|
| dystonia |
|
|
Search VAC14 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
VAC14_HUMAN- Striatonigral degeneration, childhood-onset (SNDC) [MIM:617054]: An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI. {ECO:0000269 PubMed:27292112}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for VAC14
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for VAC14 Gene
Publications for VAC14 Gene
- A mammalian ortholog of Saccharomyces cerevisiae Vac14 that associates with and up-regulates PIKfyve phosphoinositide 5-kinase activity. (PMID: 15542851) Sbrissa D … Shisheva A (Molecular and cellular biology 2004) 2 3 4 22 58
- Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PMID: 17556371) Sbrissa D … Shisheva A (The Journal of biological chemistry 2007) 3 4 22 58
- Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif. (PMID: 17161399) Lemaire JF … McPherson PS (FEBS letters 2006) 3 4 22 58
- Isolation of a cDNA clone, TRX encoding a human T-cell lymphotrophic virus type-I Tax1 binding protein. (PMID: 8611628) Mireskandari A … Brady JN (Biochimica et biophysica acta 1996) 3 4 22 58
- Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. (PMID: 27292112) Lenk GM … Ploski R (American journal of human genetics 2016) 3 4 58
Products for VAC14 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Custom Antibody Services
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for VAC14
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- Origene Custom Protein Services for VAC14
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VAC14
- Browse OriGene Inhibitory RNA Products For VAC14
- OriGene qPCR primer pairs for VAC14
- OriGene CRISPR knockouts for VAC14
- OriGene ORF clones in human for VAC14
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For VAC14
- GenScript: Next-day shipping of latest version cDNA ORF clones for VAC14 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for VAC14
- GenScript Custom Assay Services for VAC14
- GenScript Custom overexpressing Cell Line Services for VAC14
- GenScript: Design CRISPR guide RNA sequences for VAC14
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for VAC14
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for VAC14
- Novus Biologicals lysates and proteins for VAC14
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for VAC14
- Abcam proteins for VAC14
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for VAC14
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for VAC14
- VectorBuilder custom plasmid, inducible vectors for VAC14
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VAC14
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for VAC14
- antibodies-online: Search results for 16 available VAC14 Antibodies ranked by validation data
- Compare Top VAC14 Antibodies
- antibodies-online: Search results for available VAC14 related products ranked by validation data
- antibodies-online: Search results for 5 available VAC14 Proteins ranked by validation data
- Compare Top VAC14 Proteins
- Search GeneTex for Antibodies for VAC14
- Search GeneTex for Proteins for VAC14
- ViGene Biosciences adenoviral particle packaged cDNA for VAC14 gene
- ViGene Biosciences lentiviral particle packaged cDNA for VAC14 gene
- ViGene Biosciences ready-to-package AAV shRNAs for VAC14 gene
- Search ViGene Biosciences for VAC14
- Santa Cruz Biotechnology (SCBT) Antibodies for VAC14
- Search Santa Cruz Biotechnology (SCBT) for VAC14 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for VAC14
- Horizon Cell Lines for VAC14
- genomics-online: cdna clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- orf clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- genomics-online: gRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- genomics-online: primer clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
- genomics-online: shRNA clones - Search results for 102 available VAC14 gene related products
- Overview of 102 available VAC14 gene related products
Sources for VAC14 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew