SLC25A36 (solute carrier family 25 member 36)

2014-08-01  

Identity

HGNC
SLC25A36
LOCATION
3q23
LOCUSID
55186
ALIAS
PNC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55186
MIM: 616149
HGNC: 25554
Ensembl: ENSG00000114120

Variants:

dbSNP: 55186
ClinVar: 55186
TCGA: ENSG00000114120
COSMIC: SLC25A36

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114120ENST00000324194Q96CQ1
ENSG00000114120ENST00000324194A0A384MEA9
ENSG00000114120ENST00000446041Q96CQ1
ENSG00000114120ENST00000453248J3KQA4
ENSG00000114120ENST00000502594Q96CQ1
ENSG00000114120ENST00000507429F6SDC8
ENSG00000114120ENST00000512023D6RB26
ENSG00000114120ENST00000512506D6RCF5
ENSG00000114120ENST00000513887D6R8Y3
ENSG00000114120ENST00000631654Q96CQ1
ENSG00000114120ENST00000648615A0A3B3ISS3

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

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
366955472023Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.1
366955472023Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.1
253200812014The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters.47
253200812014The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters.47
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0
209446572011Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.12
209446572011Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.12
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

SLC25A36 (solute carrier family 25 member 36)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54631/teaching-explorer/gene-fusions/case-report-explorer/