Property Summary

NCBI Gene PubMed Count 17
PubMed Score 41.87
PubTator Score 33.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 3.021 2.1e-10

Gene RIF (14)

PMID Text
24924704 This is the report of a patient with compound heterozygous mutations of SLC34A3 and normal skeletal features. Biallelic mutations in SLC34A3 can thus be associated with hypercalciuria not accompanied by rickets.
24700880 Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type allele.
23246670 this study reports the first cases of hereditary hypophosphatemic rickets with hypercalciuria in Africa and describes a novel causal mutation within the SLC34A3 gene
22806288 A man with hereditary hypophosphataemic rickets with hypercalciuria & his 3 heterozygous children had a mutation in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5G>A] + [ 448 +5G>A]).
22672866 Data show 101-bp deletion in intron 9 of the SLC34A3 gene.
22387237 SLC34A3 mutations (exons and introns) were searched in two previously not reported hereditary hypophosphatemic rickets with hypercalciuria kindreds, which resulted in the identification of three novel mutations.
22159077 these data suggest that mutations in SLC34A3 in hereditary hypophosphatemic rickets with hypercalciuria result in defective processing and stability
19820004 Novel mutation in the SLC34A3 gene in a patient with an unusual presentation of hereditary hypophosphatemic rickets with hypercalciuria.
18480181 A novel missense mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in humans.
17968493 Hereditary hypophosphatemic rickets with hypercalciuria were speculated to be associated with the abnormal functions of phosphate transporter gene type IIc.
16955105 Therefore, understanding the mechanisms that control the apical expression of NaPi-IIa and NaPi-IIc as well as their functional properties is critical to understanding how an organism achieves P i homeostasis.
16358215 Loss of function of the SLC34A3 protein presumably results in a primary renal tubular defect and is compatible with the hereditary hypophosphatemic rickets with hypercalciuria phenotype.
16358214 NaP(i)-IIc has a key role in the regulation of phosphate homeostasis.
15504899 Functionally important sites in the predicted first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter (NaPi-IIa) were identified by cysteine scanning mutagenesis (Ehnes et al., 2004).

AA Sequence

MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGRLRRVA      1 - 70
GSVLKACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSS     71 - 140
IVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLE    141 - 210
SATALLERLSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWCGTTG    211 - 280
QPTQENSSCGAFGPCTEKNSTAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVL    281 - 350
RGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGS    351 - 420
NIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGV    421 - 490
YLLLGFLLLPLAAFGLSLAGGMELAAVGGPLVGLVLLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLE    491 - 560
PWDRLVTRCCPCNVCSPPKATTKEAYCYENPEILASQQL                                   561 - 599
//

Text Mined References (18)

PMID Year Title
24924704 2014 Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
24700880 2014 Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
23246670 2013 Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.
22806288 2012 Hereditary hypophosphatemic rickets with hypercalciuria: case report.
22672866 2012 SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.
22387237 2012 Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
22159077 2012 Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
19820004 2009 Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
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.
17968493 2007 Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.
16955105 2006 Proximal tubular handling of phosphate: A molecular perspective.
16358215 2006 Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
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.
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.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11880379 2002 Growth-related renal type II Na/Pi cotransporter.