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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85744 (e-PCR)
- UniSTS:103773

SHGC-154221 (e-PCR)
- UniSTS:178024

SHGC-83337 (e-PCR)
- UniSTS:101043

SLC26A7_2006 (e-PCR)
- UniSTS:281016

SHGC-81740 (e-PCR)
- UniSTS:103910

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)

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
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
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
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