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
357138442023Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.1
358813082023Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.2
373418432023PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.1
357138442023Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.1
358813082023Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.2
373418432023PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.1
364656612022PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.0
364656612022PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.0
334712682021Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.3
340416892021MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.0
342673362021Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.8
334712682021Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.3
340416892021MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.0
342673362021Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.8
322745822020Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.3

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/css/lib/favicon/gene-fusions/?id=42315