SLC20A2 (solute carrier family 20 member 2)

2003-02-01  

Identity

HGNC
SLC20A2
LOCATION
8p11.21
LOCUSID
6575
ALIAS
GLVR-2,GLVR2,IBGC1,IBGC2,IBGC3,MLVAR,PIT-2,PIT2,RAM1,Ram-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6575
MIM: 158378
HGNC: 10947
Ensembl: ENSG00000168575

Variants:

dbSNP: 6575
ClinVar: 6575
TCGA: ENSG00000168575
COSMIC: SLC20A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168575ENST00000342228Q08357
ENSG00000168575ENST00000342228A0A384MR38
ENSG00000168575ENST00000517366E5RGJ6
ENSG00000168575ENST00000518384E5RJW9
ENSG00000168575ENST00000518717E5RGG8
ENSG00000168575ENST00000520179Q08357
ENSG00000168575ENST00000520179A0A384MR38
ENSG00000168575ENST00000520262Q08357
ENSG00000168575ENST00000520262A0A384MR38
ENSG00000168575ENST00000522707E5RIX1
ENSG00000168575ENST00000524211E5RGM8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium-coupled phosphate cotransportersREACTOMER-HSA-427652

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
223275152012Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
240657232013Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.37
233344632013Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.30
174946322007Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.26
231226422012Genetics in arterial calcification: lessons learned from rare diseases.23
257269282015Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.19
261298932015Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.19
244636262014Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.16
167905042006Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2.15

Citation

Dessen P

SLC20A2 (solute carrier family 20 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42315/slc20a2