VAC14 (VAC14 component of PIKFYVE complex)

2003-12-01  

Identity

HGNC
VAC14
LOCATION
16q22.1
LOCUSID
55697
ALIAS
ArPIKfyve,TAX1BP2,TRX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55697
MIM: 604632
HGNC: 25507
Ensembl: ENSG00000103043

Variants:

dbSNP: 55697
ClinVar: 55697
TCGA: ENSG00000103043
COSMIC: VAC14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103043ENST00000261776Q08AM6
ENSG00000103043ENST00000536184Q08AM6
ENSG00000103043ENST00000563662A0A087WT26
ENSG00000103043ENST00000566416H3BQD9
ENSG00000103043ENST00000567648J3QLC3
ENSG00000103043ENST00000568548H3BN23
ENSG00000103043ENST00000568886H3BUU8

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the early endosome membraneREACTOMER-HSA-1660516
Synthesis of PIPs at the late endosome membraneREACTOMER-HSA-1660517

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA449383docetaxelChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
372479112023TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein.1
372479112023TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein.1
345547602021Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.3
345547602021Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.3
318763982020Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.6
329499582020Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.4
318763982020Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.6
329499582020Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.4
315914922019Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.5
315914922019Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.5
291873802018Nbeal2 interacts with Dock7, Sec16a, and Vac14.11
300665852018Nephron-specific knockin of the PIKfyve-binding-deficient Vac14(L156R) mutant results in albuminuria and mesangial expansion.1
291873802018Nbeal2 interacts with Dock7, Sec16a, and Vac14.11
300665852018Nephron-specific knockin of the PIKfyve-binding-deficient Vac14(L156R) mutant results in albuminuria and mesangial expansion.1
286359522017Yunis-Varón syndrome caused by biallelic VAC14 mutations.11

Citation

Dessen P

VAC14 (VAC14 component of PIKFYVE complex)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/53316/favicon/gene-explorer/