SLC34A2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC34A2 (HGNC:11020) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 34 member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NAPI-3B, NaPi-2b, NPTIIb, NaPi2b, NAPI-IIb
%HI
70.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.02(Read more about gnomAD LOEUF score)
Cytoband
4p15.2
Genomic Coordinates
GRCh37/hg19: chr4:25657473-25680370 NCBI Ensembl UCSC
GRCh38/hg38: chr4:25655851-25678748 NCBI Ensembl UCSC
MANE Select Transcript
NM_006424.3 ENST00000382051.8 (Read more about MANE Select)
Function
Involved in actively transporting phosphate into cells via Na(+) cotransport. {ECO:0000269|PubMed:10329428}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33068
ClinGen Curation ID:
CCID:007876
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • pulmonary alveolar microlithiasis Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)