VAC14 (VAC14 component of PIKFYVE complex)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55697
Gene name Gene Name - the full gene name approved by the HGNC.
VAC14 component of PIKFYVE complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VAC14
Synonyms (NCBI Gene) Gene synonyms aliases
ArPIKfyve, TAX1BP2, TRX
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1-q22.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs749094914 C>A,T Uncertain-significance, pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs879255555 C>T Pathogenic Splice donor variant
rs879255645 G>A Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs1555527284 T>C Likely-pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(413)
miRTarBase ID miRNA Experiments Reference
MIRT016639 hsa-miR-429 Reporter assay 20005803
MIRT020349 hsa-miR-200a-3p Reporter assay 20005803
MIRT021072 hsa-miR-200c-3p Reporter assay 20005803
MIRT021651 hsa-miR-141-3p Reporter assay 20005803
MIRT024128 hsa-miR-200b-3p Reporter assay 20005803
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 17161399, 19037259, 25416956, 26871637, 28514442, 29187380, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005768 Component Endosome IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604632 25507 ENSG00000103043
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q08AM6
Protein name Protein VAC14 homolog (Tax1-binding protein 2)
Protein function Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the
PDB 7K1Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12755 Vac14_Fab1_bd 67 → 163 Family
PF11916 Vac14_Fig4_bd 542 → 720 Vacuolar protein 14 C-terminal Fig4p binding Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8611628}.
Sequence 
MNPEKDFAPLTPNIVRALNDKLYEKRKVAALEIEKLVREFVAQNNTVQIKHVIQTLSQEF
ALSQHPHSRKGGLIGLAACSIALGKDSGLYLKELIEPVLTCFNDADSRLRYYACEALYNI
VKVARGAVLPHFNVLFDGLSKLAADPDPNVKSGSELLDRLLKDIVTESNKFDLVSFIPLL
RERIYSNNQYARQFIISWILVLESVPDINLLDYLPEILDGLFQILGDNGKEIRKMCEVVL
GEFLKEIKKNPSSVKFAEMANILVIHCQTTDDLIQLTAMCWMREFIQLAGRVMLPYSSGI
LTAVLPCLAYDDRKKSIKEVANVCNQSLMKLVTPEDDELDELRPGQRQAEPTPDDALPKQ
EGTASGGPDGSCDSSFSSGISVFTAASTERAPVTLHLDGIVQVLNCHLSDTAIGMMTRIA
VLKWLYHLYIKTPRKMFRHTDSLFPILLQTLSDESDEVILKDLEVLAEIASSPAGQTDDP
GPLDGPDLQASHSELQVPTPGRAGLLNTSGTKGLECSPSTPTMNSYFYKFMINLLKRFSS
ERKLLEVRGPFIIRQLCLLLNAENIFHSMADILLREEDLKFASTMVHALNTILLTSTELF
QLRNQLKDLKTLESQNLFCCLYRSWCHNPVTTVSLCFLTQNYRHAYDLIQKFGDLEVTVD
FLAEVDKLVQLIECPIFTYLRLQLLDVKNNPYLIKALYGLLMLLPQSSAFQLLSHRLQCV
PNPELLQTEDSLKAAPKSQKADSPSIDYAELLQHFEKVQNKHLEVRHQRSGRGDHLDRRV
VL
Sequence length 782
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Human T-cell leukemia virus 1 infection
Viral carcinogenesis 		  Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Striatonigral Degeneration striatonigral degeneration, childhood-onset rs762388639, rs879255555, rs749094914, rs879255645, rs769608639 N/A
Yunis Varon Syndrome yunis-varon syndrome rs1060499667, rs769608639 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diffuse Cutaneous Systemic Sclerosis Diffuse cutaneous systemic sclerosis N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Conduction Associate 31387860
Dystonia Associate 27292112, 40221969
Genetic Diseases Inborn Associate 27292112
Heredodegenerative Disorders Nervous System Associate 27292112
Iron Deficiencies Associate 40221969
Leukoencephalopathies Associate 28635952
Neuroferritinopathy Associate 31387860
Neurologic Manifestations Associate 27292112
Pediatric Obesity Associate 31387860
Retinitis Pigmentosa Associate 31387860