VPS13D (vacuolar protein sorting 13 homolog D)

2003-05-01  

Identity

HGNC
VPS13D
LOCATION
1p36.22
LOCUSID
55187
ALIAS
SCAR4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55187
MIM: 608877
HGNC: 23595
Ensembl: ENSG00000048707

Variants:

dbSNP: 55187
ClinVar: 55187
TCGA: ENSG00000048707
COSMIC: VPS13D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000048707ENST00000011700H3BLS7
ENSG00000048707ENST00000466732R4GMW1
ENSG00000048707ENST00000543766F5GX56
ENSG00000048707ENST00000613099Q5THJ4
ENSG00000048707ENST00000620676Q5THJ4
ENSG00000048707ENST00000645371A0A2R8Y876
ENSG00000048707ENST00000646917A0A2R8YD87

Expression (GTEx)

0
5
10
15
20
25
30
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

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

References

Pubmed IDYearTitleCitations
381607412024Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.0
385692472024Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.0
381607412024Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.0
385692472024Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.0
361930312023Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.0
367682102023Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.2
361930312023Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.0
367682102023Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.2
361562522022VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.1
361562522022VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.1
336230472021An ESCRT-dependent step in fatty acid transfer from lipid droplets to mitochondria through VPS13D-TSG101 interactions.46
337581642021The lncRNA Snhg1-Vps13D vesicle trafficking system promotes memory CD8 T cell establishment via regulating the dual effects of IL-7 signaling.20
338910122021VPS13D promotes peroxisome biogenesis.35
338910132021VPS13D bridges the ER to mitochondria and peroxisomes via Miro.70
340198222021Vmp1, Vps13D, and Marf/Mfn2 function in a conserved pathway to regulate mitochondria and ER contact in development and disease.16

Citation

Dessen P

VPS13D (vacuolar protein sorting 13 homolog D)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42796/gene-fusions/css/template-card.css