VAC14 (VAC14 component of PIKFYVE complex)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55697
Gene name VAC14 component of PIKFYVE complex
Gene symbol VAC14
Synonyms (NCBI Gene)
ArPIKfyveTAX1BP2TRX
Chromosome 16
Chromosome location 16q22.1-q22.2
Summary 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.
4
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.
413
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604632 25507 ENSG00000103043
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Striatonigral degeneration, childhood-onset Likely pathogenic; Pathogenic rs1015359196, rs762388639, rs879255555, rs749094914, rs879255645, rs2507738804, rs769608639 RCV002471609
RCV000239574
RCV000239487
RCV000239537
RCV000239591
RCV003447872
RCV004800412
Yunis-Varon syndrome Likely pathogenic; Pathogenic rs1060499667, rs769608639 RCV000449551
RCV000449608
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs61756217 RCV005908042
Cervical cancer Benign rs61756217 RCV005908045
Cholangiocarcinoma Benign rs61756217 RCV005908054
Colon adenocarcinoma Benign rs61756217 RCV005908041
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease 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