Gene Gene information from NCBI Gene database.
Entrez ID 115111
Gene name Solute carrier family 26 member 7
Gene symbol SLC26A7
Synonyms (NCBI Gene)
SUT2
Chromosome 8
Chromosome location 8q21.3
Summary This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the ki
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs774517670 C>T Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
61
miRTarBase ID miRNA Experiments Reference
MIRT018335 hsa-miR-335-5p Microarray 18185580
MIRT023903 hsa-miR-1-3p Microarray 18668037
MIRT653673 hsa-miR-409-3p HITS-CLIP 23824327
MIRT653672 hsa-miR-3156-5p HITS-CLIP 23824327
MIRT653671 hsa-miR-33a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0001696 Process Gastric acid secretion IEA
GO:0005253 Function Monoatomic anion channel activity IEA
GO:0005254 Function Chloride channel activity IDA 11834742
GO:0005254 Function Chloride channel activity IEA
GO:0005254 Function Chloride channel activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608479 14467 ENSG00000147606
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TE54
Protein name Anion exchange transporter (Solute carrier family 26 member 7)
Protein function Acts as an anion channel mediating the transport of chloride, sulfate and oxalate ions (PubMed:11834742). Mediates the transport of bromide, iodide, nitrate, gluconate, thiocyanate and bicarbonate ions (By similarity). Its permeability towards b
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00916 Sulfate_transp 47 444 Sulfate permease family Family
PF01740 STAS 493 637 STAS domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the thyroid gland (at protein level). Expressed in tonsillar high endothelial venule endothelial cells (HEVEC), placenta and in testis, expressed in a subgroup of basal cells in the epididymal ducts. {ECO:0000269|PubMed:11
Sequence
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Gastric acid secretion   Multifunctional anion exchangers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital hypothyroidism Likely pathogenic rs774517670 RCV001028069
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hyperoxaluria Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC26A7-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 10192399
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34516545 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 34944008 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Hypothyroidism Congenital Hypothyroidism BEFREE 29546359, 30333321
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism Congenital hypothyroidism Pubtator 34200080 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea Diarrhea Pubtator 34270794 Associate
★☆☆☆☆
Found in Text Mining only
Diastrophic dysplasia Diastrophic Dysplasia BEFREE 10192399
★☆☆☆☆
Found in Text Mining only
Distal Renal Tubular Acidosis Distal Renal Tubular Acidosis BEFREE 19723628
★☆☆☆☆
Found in Text Mining only
Hereditary spherocytosis Hereditary Spherocytosis BEFREE 1289181
★☆☆☆☆
Found in Text Mining only
Nausea Nausea Pubtator 34270794 Associate
★☆☆☆☆
Found in Text Mining only