Identity
HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
FRTS2,HCINF2,NAPI-3,NPHLOP1,NPT2,NPTIIa,SLC11,SLC17A2
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: 6569
MIM: 182309
HGNC: 11019
Ensembl: ENSG00000131183
Variants:
dbSNP: 6569
ClinVar: 6569
TCGA: ENSG00000131183
COSMIC: SLC34A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000131183 | ENST00000324417 | Q06495 |
| ENSG00000131183 | ENST00000324417 | A0A024R7R9 |
| ENSG00000131183 | ENST00000504577 | D6RCE5 |
| ENSG00000131183 | ENST00000512593 | Q06495 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38504242 | 2024 | Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. | 0 |
| 38504242 | 2024 | Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. | 0 |
| 36762943 | 2023 | High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture. | 0 |
| 36762943 | 2023 | High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture. | 0 |
| 35414099 | 2022 | The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. | 1 |
| 35414099 | 2022 | The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice. | 1 |
| 32858021 | 2021 | Nephrolithiasis from an Unexpected Cause: Phosphaturia. | 1 |
| 33099630 | 2021 | Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations. | 6 |
| 33499384 | 2021 | Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box. | 5 |
| 33516786 | 2021 | Analysis of vitamin D(3) metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. | 2 |
| 34320495 | 2021 | CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria. | 1 |
| 32858021 | 2021 | Nephrolithiasis from an Unexpected Cause: Phosphaturia. | 1 |
| 33099630 | 2021 | Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations. | 6 |
| 33499384 | 2021 | Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box. | 5 |
| 33516786 | 2021 | Analysis of vitamin D(3) metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. | 2 |
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-(solute-carrier-family-34-member-1)
