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SLC26A4 |
Gene Facts External Data Attribution
- HGNC Symbol
- SLC26A4 (HGNC:8818) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 26 member 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB4
- Alias symbols
- PDS
- %HI
- 25.58(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 7q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:107301273-107358254 NCBI Ensembl UCSC GRCh38/hg38: chr7:107660828-107717809 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000441.2 ENST00000644269.2 (Read more about MANE Select)
- Function
- Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:12107249, PubMed:11932316, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:35601831, PubMed:24051746). Mediates electroneutral iodide-bicarbonate exchange (By similarity). {ECO:0000250|UniProtKB:Q9R155, ECO:0000269|PubMed:10192399, ECO:0000269|PubMed:10644529, ECO:0000269|PubM... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6325
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)
