SLC34A3 (solute carrier family 34 member 3)

2014-11-01 Affiliation

Identity

HGNC

SLC34A3

LOCATION

9q34.3

LOCUSID

142680

ALIAS

HHRH,NPTIIc

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 142680
MIM: 609826
HGNC: 20305
Ensembl: ENSG00000198569

Variants:

dbSNP: 142680
ClinVar: 142680
TCGA: ENSG00000198569
COSMIC: SLC34A3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198569	ENST00000361134	Q8N130
ENSG00000198569	ENST00000538474	Q8N130

Expression (GTEx)

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

Pathway	Source	External ID
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptides	REACTOME	R-HSA-425393
Sodium-coupled phosphate cotransporters	REACTOME	R-HSA-427652
Type II Na+/Pi cotransporters	REACTOME	R-HSA-427589

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
16358214	2006	SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.	108
16358215	2006	Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.	90
16955105	2006	Proximal tubular handling of phosphate: A molecular perspective.	61
18480181	2008	A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.	23
24700880	2014	Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.	23
19820004	2009	Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.	16
22387237	2012	Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.	10
17968493	2007	Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.	9
15504899	2004	Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites.	7
22672866	2012	SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.	5

Citation

Dessen P

SLC34A3 (solute carrier family 34 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73396/slc34a3