SLC34A1 (solute carrier family 34 member 1)

2014-11-01  

Identity

HGNC
SLC34A1
LOCATION
5q35.3
LOCUSID
6569
ALIAS
FRTS2,HCINF2,NAPI-3,NPHLOP1,NPT2,NPTIIa,SLC11,SLC17A2

Other Information

Locus ID:

NCBI: 6569
MIM: 182309
HGNC: 11019
Ensembl: ENSG00000131183

Variants:

dbSNP: 6569
ClinVar: 6569
TCGA: ENSG00000131183
COSMIC: SLC34A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131183ENST00000324417Q06495
ENSG00000131183ENST00000324417A0A024R7R9
ENSG00000131183ENST00000504577D6RCE5
ENSG00000131183ENST00000512593Q06495

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Metabolism of proteinsREACTOMER-HSA-392499
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
Type II Na+/Pi cotransportersREACTOMER-HSA-427589
Surfactant metabolismREACTOMER-HSA-5683826

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
203831462010New loci associated with kidney function and chronic kidney disease.337
169551052006Proximal tubular handling of phosphate: A molecular perspective.61
118803792002Growth-related renal type II Na/Pi cotransporter.57
203355862010A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.43
205585392010Common genetic variants associate with serum phosphorus concentration.37
126743252003Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2.35
260477942016Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.34
166881192006NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.19
146723482003Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.15
156136172005Substrate interactions in the human type IIa sodium-phosphate cotransporter (NaPi-IIa).13

Citation

Dessen P

SLC34A1 (solute carrier family 34 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73395/slc34a1