SLC25A38 (solute carrier family 25 member 38)

2017-01-01  

Identity

HGNC
SLC25A38
LOCATION
3p22.1
LOCUSID
54977
ALIAS
SIDBA2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54977
MIM: 610819
HGNC: 26054
Ensembl: ENSG00000144659

Variants:

dbSNP: 54977
ClinVar: 54977
TCGA: ENSG00000144659
COSMIC: SLC25A38

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144659ENST00000431510C9JT44
ENSG00000144659ENST00000642683A0A2R8YE85
ENSG00000144659ENST00000642978A0A2R8YD83
ENSG00000144659ENST00000643672A0A2R8Y553
ENSG00000144659ENST00000645280A0A2R8Y823
ENSG00000144659ENST00000645630A0A2R8Y427
ENSG00000144659ENST00000648579A0A3B3IT77
ENSG00000144659ENST00000650617Q96DW6
ENSG00000144659ENST00000650617A0A024R2L5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.41
263356432015Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis.26
231151922012Appoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration.20
268213802016Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.18
213933322011Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.16
274761752016Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.11
268137892016Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology.10
243239892013Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.6
255123952015Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.2

Citation

Dessen P

SLC25A38 (solute carrier family 25 member 38)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56709/slc25a38