SLC25A46 (solute carrier family 25 member 46)

2017-08-01  

Identity

HGNC
SLC25A46
LOCATION
5q22.1
LOCUSID
91137
ALIAS
HMSN6B,PCH1E
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91137
MIM: 610826
HGNC: 25198
Ensembl: ENSG00000164209

Variants:

dbSNP: 91137
ClinVar: 91137
TCGA: ENSG00000164209
COSMIC: SLC25A46

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164209ENST00000355943Q96AG3
ENSG00000164209ENST00000447245Q96AG3
ENSG00000164209ENST00000504098Q96AG3
ENSG00000164209ENST00000509432B7Z6C8
ENSG00000164209ENST00000513807E7EVY2

Expression (GTEx)

0
5
10
15
20
25
30
35
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
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
261680122015Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.48
273901322016SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.39
280577662017Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
275439742016Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.17
283760862017Novel insights into SLC25A46-related pathologies in a genetic mouse model.8
238798732013Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis.6
285583792017SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.5

Citation

Dessen P

SLC25A46 (solute carrier family 25 member 46)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56912/slc25a46