STARD3NL (STARD3 N-terminal like)

2014-11-01  

Identity

HGNC
STARD3NL
LOCATION
7p14.1
LOCUSID
83930
ALIAS
MENTHO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83930
MIM: 611759
HGNC: 19169
Ensembl: ENSG00000010270

Variants:

dbSNP: 83930
ClinVar: 83930
TCGA: ENSG00000010270
COSMIC: STARD3NL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000010270ENST00000009041O95772
ENSG00000010270ENST00000009041A0A024RA89
ENSG00000010270ENST00000396013O95772
ENSG00000010270ENST00000396013A0A024RA89
ENSG00000010270ENST00000429075C9JPX5
ENSG00000010270ENST00000434197C9JKL2
ENSG00000010270ENST00000440144C9J3F5
ENSG00000010270ENST00000453225C9JJ39

Expression (GTEx)

0
10
20
30
40
50
60
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Pregnenolone biosynthesisREACTOMER-HSA-196108

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
241052632013STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the ER.69
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
167091572006MLN64 and MENTHO, two mediators of endosomal cholesterol transport.19
157182382005Functional characterization of the MENTAL domain.15
123939072002MENTHO, a MLN64 homologue devoid of the START domain.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
270689602016Touché! STARD3 and STARD3NL tether the ER to endosomes.6

Citation

Dessen P

STARD3NL (STARD3 N-terminal like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74294/stard3nl