SLC26A4

Protein identityUniProt · HPA

UniProt accession

O43511

Gene

SLC26A4

Ensembl

ENSG00000091137

Chromosome

7

Canonical length

780 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

780 residues, UniProt reviewed canonical sequence.

>O43511|SLC26A4
     1  MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL AKCCSCSRKR
    61  AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL QGMAYALLAA VPVGYGLYSA
   121  FFPILTYFIF GTSRHISVGP FPVVSLMVGS VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA
   181  RDTARVLIAS ALTLLVGIIQ LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL
   241  NVSTKNYNGV LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI
   301  PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML AASFSIAVVA
   361  YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC FVATTALSRT AVQESTGGKT
   421  QVAGIISAAI VMIAILALGK LLEPLQKSVL AAVVIANLKG MFMQLCDIPR LWRQNKIDAV
   481  IWVFTCIVSI ILGLDLGLLA GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE
   541  EPQGVKILRF SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT
   601  KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV PKVPIHSLVL
   661  DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI EKLEQCGFFD DNIRKDTFFL
   721  TVHDAILYLQ NQVKSQEGQG SILETITLIQ DCKDTLELIE TELTEEELDV QDEAMRTLAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC26A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

12

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

247 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC26A4.

Disease | AllUniProt

Conditions SLC26A4 is implicated in, by any mechanism.

• Pendred syndrome (PDS) MIM:274600
• Deafness, autosomal recessive, 4 (DFNB4) MIM:600791

Disease | GeneticClinVar

635 pathogenic / likely-pathogenic of 1,813 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 4
• Pendred syndrome
• Rare genetic deafness
• SLC26A4-related disorder
• Hearing loss, autosomal recessive

Disease | AutoantibodyPubMed

Conditions in which antibodies against SLC26A4 are reported. Each links to that disease's full target list.

• Thyroiditis, Autoimmune 3

ReferencesPubMed · IEDB

Publications for SLC26A4 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.18

gnomAD pLI

0

gnomAD missense Z

-2.01

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chloride transmembrane transport
• inorganic anion transport
• iodide transport
• monoatomic ion transport
• regulation of pH
• regulation of protein localization
• sensory perception of sound
• sulfate transmembrane transport

Molecular functions

• chloride transmembrane transporter activity
• chloride:bicarbonate antiporter activity
• iodide transmembrane transporter activity
• oxalate transmembrane transporter activity
• secondary active sulfate transmembrane transporter activity
• sulfate transmembrane transporter activity

Cellular components

• apical plasma membrane
• brush border membrane
• extracellular exosome
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• SLC26A/SulP transporter
• STAS domain
• SLC26A/SulP transporter domain
• Sulphate anion transporter, conserved site
• STAS domain superfamily
• Sulfate permease family
• STAS domain

KeywordsUniProt

• Cell membrane
• Chloride
• Deafness
• Membrane
• Non-syndromic deafness
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC26A4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• IQGAP1