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

Gene ID: 115111, updated on 11-Apr-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
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Genomic context

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Location:
8q21.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91209496..91398155)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (92334433..92523083)
105.20220307 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
  • 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in sulfate 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_2023_10

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

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