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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC26A7
solute carrier family 26 member 7
Chromosome 8 Β· 8q21.3
NCBI Gene: 115111Ensembl: ENSG00000147606.10HGNC: HGNC:14467UniProt: A0A087WZI7
25PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
oxalate transmembrane transporter activitychloride:bicarbonate antiporter activitysulfate transmembrane transportchloride channel activitysmoking initiationcongenital hypothyroidismacquired thrombocytopeniaactinic keratosis
✦AI Summary

SLC26A7 is a multifunctional anion transporter that primarily mediates transmembrane transport of chloride, sulfate, oxalate, bromide, iodide, nitrate, thiocyanate, and bicarbonate ions 1. The protein functions as both an anion channel and exhibits chloride-bicarbonate exchanger activity 1. SLC26A7 plays a critical role in thyroid hormone biosynthesis through iodide transport, with homozygous loss-of-function mutations causing goitrous congenital hypothyroidism 2. Mouse studies demonstrate that SLC26A7 impacts thyroid function more strongly than the related transporter SLC26A4, with Slc26a7-deficient mice showing severe hypothyroidism and growth failure that is partially corrected by iodine supplementation 3. In the kidney, SLC26A7 localizes to intercalated cells of collecting ducts and shows dynamic subcellular trafficking, residing in endosomes under normal conditions but translocating to the basolateral membrane during hypertonicity and potassium depletion 4. The protein is also expressed in gastric parietal cells and contributes to bicarbonate transport during tooth enamel maturation 5. Population genetic analysis indicates SLC26A7 mutations contribute to autosomal recessive congenital hypothyroidism with a carrier frequency of 0.144% globally 6.

Sources cited
1
SLC26A7 mediates transport of multiple anions and functions as both channel and exchanger
PMID: 40817112
2
Loss-of-function mutations cause goitrous congenital hypothyroidism
PMID: 30333321
3
SLC26A7 impacts thyroid function more strongly than SLC26A4 in mouse models
PMID: 35788623
4
Dynamic subcellular trafficking from endosomes to basolateral membrane under specific conditions
PMID: 16524946
5
Expression in tooth enamel development and bicarbonate transport
PMID: 28795233
6
Population carrier frequency and genetic prevalence data
PMID: 34200080
Disease Associationsβ“˜20
smoking initiationOpen Targets
0.37Weak
congenital hypothyroidismOpen Targets
0.34Weak
acquired thrombocytopeniaOpen Targets
0.26Weak
actinic keratosisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
bipolar disorderOpen Targets
0.17Weak
HyperoxaluriaOpen Targets
0.12Weak
androgenetic alopeciaOpen Targets
0.11Weak
chronic laryngitisOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.09Suggestive
appendicitisOpen Targets
0.06Suggestive
clear cell renal carcinomaOpen Targets
0.06Suggestive
thyroid hormone metabolism, abnormal, 3Open Targets
0.05Suggestive
hypothyroidism due to TSH receptor mutationsOpen Targets
0.05Suggestive
familial hyperthyroidism due to mutations in TSH receptorOpen Targets
0.04Suggestive
thyroid hormone resistance, generalized, autosomal dominantOpen Targets
0.04Suggestive
inherited retinal dystrophyOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal 1Open Targets
0.04Suggestive
hyperthyroxinemiaOpen Targets
0.04Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.04Suggestive
Pathogenic Variants4
NM_052832.4(SLC26A7):c.974C>A (p.Ala325Asp)Likely pathogenic
Congenital hypothyroidism
β˜…β˜†β˜†β˜†2025β†’ Residue 325
NM_052832.4(SLC26A7):c.1026+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_052832.4(SLC26A7):c.1554dup (p.Phe519fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 519
NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter)Likely pathogenic
Congenital hypothyroidism
β˜…β˜†β˜†β˜†β†’ Residue 500
View on ClinVar β†—
Related Genes
SLC4A2Protein interaction96%SLC26A1Shared pathway56%SLC26A8Shared pathway44%SLC26A9Shared pathway36%SLC26A4Shared pathway31%SLC26A3Shared pathway31%
Tissue Expression6 tissues
Heart
100%
Liver
43%
Lung
37%
Ovary
23%
Brain
22%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
SLC26A7SLC4A2SLC26A1SLC26A8SLC26A9SLC26A4SLC26A3
PROTEIN STRUCTURE
Preparing viewer…
PDB9IKV Β· 3.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.61–1.03]
RankingsWhere SLC26A7 stands among ~20K protein-coding genes
  • #13,067of 20,598
    Most Researched25
  • #3,845of 5,498
    Most Pathogenic Variants4
  • #10,136of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedSLC26A7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
PMID: 34200080
Genes (Basel) Β· 2021
1.00
2
SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney.
PMID: 15956810
Nephron Exp Nephrol Β· 2005
0.90
3
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.
PMID: 35788623
Sci Rep Β· 2022
0.80
4
Bicarbonate Transport During Enamel Maturation.
PMID: 28795233
Calcif Tissue Int Β· 2017
0.70
5
Structural basis for substrate recognition mechanism of human SLC26A7.
PMID: 40817112
Nat Commun Β· 2025
0.60