SLC34A1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC34A1 (HGNC:11019) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 34 member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NPT2, SLC17A2
Alias symbols
NAPI-3, NPTIIa, SLC11
%HI
55.22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.29(Read more about gnomAD LOEUF score)
Cytoband
5q35.3
Genomic Coordinates
GRCh37/hg19: chr5:176811435-176825849 NCBI Ensembl UCSC
GRCh38/hg38: chr5:177384434-177398848 NCBI Ensembl UCSC
MANE Select Transcript
NM_003052.5 ENST00000324417.6 (Read more about MANE Select)
Function
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:26047794, PubMed:8327470, PubMed:12324554, PubMed:20335586). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic (By similarity). {ECO:0000250|UniProtKB:Q06496, ECO:0000269|PubMed:12324554, ECO:0000269|PubMed:20335586, ECO:0000269|PubMed:26047794, ECO:0000269|PubMed:8327470}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15186
ClinGen Curation ID:
CCID:007875
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)