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    SLC26A7 solute carrier family 26 member 7 [ Homo sapiens (human) ]

    Gene ID: 115111, updated on 14-Nov-2024

    Summary

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    Official Symbol
    SLC26A7provided by HGNC
    Official Full Name
    solute carrier family 26 member 7provided by HGNC
    Primary source
    HGNC:HGNC:14467
    See related
    Ensembl:ENSG00000147606 MIM:608479; AllianceGenome:HGNC:14467
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SUT2
    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 kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
    Expression
    Restricted expression toward thyroid (RPKM 194.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC26A7 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91209496..91398155)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (92334433..92523083)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (92221724..92410383)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 69 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:92209377-92209886 Neighboring gene ceruloplasmin pseudogene Neighboring gene microRNA 4661 Neighboring gene uncharacterized LOC105375637 Neighboring gene NANOG hESC enhancer GRCh37_chr8:92457755-92458322 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:92539517-92540085 Neighboring gene RN7SK pseudogene 231

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Relationships between SLC26A7 expressions and extra-thyroid metastasis of papillary thyroid carcinoma. Huang F, et al. Chin Med J (Engl), 2021 Sep 28. PMID 34593695, Free PMC Article
    2. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. Zou M, et al. J Clin Endocrinol Metab, 2018 May 1. PMID 29546359
    3. SLC26A7: a basolateral Cl-/HCO3- exchanger specific to intercalated cells of the outer medullary collecting duct. Petrovic S, et al. Am J Physiol Renal Physiol, 2004 Jan. PMID 12965893
    4. SLC26A7 constitutes the thiocyanate-selective anion conductance of the basolateral membrane of the retinal pigment epithelium. Cao X, et al. Am J Physiol Cell Physiol, 2020 Oct 1. PMID 32726161, Free PMC Article
    5. SLC26A7 protein is a chloride/bicarbonate exchanger and its abundance is osmolarity- and pH-dependent in renal epithelial cells. Ullah AKMS, et al. Biochim Biophys Acta Biomembr, 2020 Jun 1. PMID 32119864

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Relationships between SLC26A7 expressions and extra-thyroid metastasis of papillary thyroid carcinoma.
      Title: Relationships between SLC26A7 expressions and extra-thyroid metastasis of papillary thyroid carcinoma.
    2. Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
      Title: Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
    3. SLC26A7 constitutes the thiocyanate-selective anion conductance of the basolateral membrane of the retinal pigment epithelium.
      Title: SLC26A7 constitutes the thiocyanate-selective anion conductance of the basolateral membrane of the retinal pigment epithelium.
    4. Study reports homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous congenital hypothyroidism and shows that goitrous hypothyroidism also occurs in Slc26a7-null mice.
      Title: Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
    5. SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis.
      Title: Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
    6. the molecular cloning from human HEVEC of a 2.9-kb cDNA encoding SLC26A7, a novel member of the SLC26 (solute carrier 26) sulfate/anion exchanger family
      Title: Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney.
    7. In human kidney SLC26A6 and A7 have a distinct, partially overlapping expression in distal segments of nephrons. The distribution partly differs from that found previously in rodent kidneys.
      Title: SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney.
    8. The trafficking to the cell surface suggests novel functional upregulation of SLC26A7 in states that are associated with hypokalemia or increased medullary tonicity.
      Title: Chloride/bicarbonate exchanger SLC26A7 is localized in endosomes in medullary collecting duct cells and is targeted to the basolateral membrane in hypertonicity and potassium depletion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: LRRC69

    Homology

    Clone Names

    • MGC126268

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bicarbonate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables bicarbonate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables chloride transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chloride:bicarbonate antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxalate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxalate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sulfate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sulfate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bicarbonate transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gastric acid secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gluconate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in nitrate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oxalate transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sulfate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sulfate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thyroid hormone generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    anion exchange transporter
    Names
    solute carrier family 26 (anion exchanger), member 7
    solute carrier family 6 member 7
    sulfate anion transporter
    sulfate anion transporter 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001282356.2 → NP_001269285.1  anion exchange transporter isoform a

      See identical proteins and their annotated locations for NP_001269285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. Variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      AF331521, AI758950, BC094730
      Consensus CDS
      CCDS6254.1
      UniProtKB/Swiss-Prot
      Q24JS8, Q8TE53, Q8TE54, Q96RN2
      Related
      ENSP00000428849.1, ENST00000523719.5
      Conserved Domains (2) summary
      cd07042
      Location:495 → 631
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:33 → 637
      sulP; high affinity sulphate transporter 1

    2. NM_001282357.2 → NP_001269286.1  anion exchange transporter isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 3. This variant represents translation initiation at a downstream AUG; the 5'-most initiation codon, as used in variant 3, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode isoform c.
      Source sequence(s)
      AF331521, AI758950, BC060784, BC094730
      Consensus CDS
      CCDS75765.1
      UniProtKB/TrEMBL
      A0A087WZI7
      Related
      ENSP00000482686.1, ENST00000617078.3
      Conserved Domains (2) summary
      cd07042
      Location:194 → 330
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:2 → 336
      sulP; high affinity sulphate transporter 1

    3. NM_052832.4 → NP_439897.1  anion exchange transporter isoform a

      See identical proteins and their annotated locations for NP_439897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 3. Variants 1 and 3 encode the same protein (isoform a).
      Source sequence(s)
      AF331521, AI758950, AJ413229, BC094730
      Consensus CDS
      CCDS6254.1
      UniProtKB/Swiss-Prot
      Q24JS8, Q8TE53, Q8TE54, Q96RN2
      Related
      ENSP00000276609.3, ENST00000276609.8
      Conserved Domains (2) summary
      cd07042
      Location:495 → 631
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:33 → 637
      sulP; high affinity sulphate transporter 1

    4. NM_134266.2 → NP_599028.1  anion exchange transporter isoform b

      See identical proteins and their annotated locations for NP_599028.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate terminal exon, which results in a frameshift, compared to variant 3. The resulting isoform (b) has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC087847, AC104967
      Consensus CDS
      CCDS6255.1
      UniProtKB/Swiss-Prot
      Q8TE54
      Related
      ENSP00000309504.2, ENST00000309536.6
      Conserved Domains (2) summary
      cd07042
      Location:495 → 631
      STAS_SulP_like_sulfate_transporter; Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function
      TIGR00815
      Location:33 → 637
      sulP; high affinity sulphate transporter 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      91209496..91398155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      92334433..92523083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE54.2 GenPept UniProtKB/Swiss-Prot:Q8TE54

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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