SLC26A4

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Solute carrier family 26, member 4
Identifiers
Symbols SLC26A4 ; DFNB4; PDS
External IDs OMIM: 605646 MGI1346029 HomoloGene20132
RNA expression pattern
File:PBB GE SLC26A4 206529 x at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 5172
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 23985

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000091137
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000020651

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| O43511
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q9R155

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000441 (mRNA)
NP_000432 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_011867 (mRNA)
NP_035997 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 7: 107.09 - 107.15 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 12: 32.1 -  32.15 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Solute carrier family 26, member 4, also known as SLC26A4, is a human gene.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: SLC26A4 solute carrier family 26, member 4".

Further reading

  • Markovich D (2001). "Physiological roles and regulation of mammalian sulfate transporters". Physiol. Rev. 81 (4): 1499–533. PMID 11581495.
  • Baldwin CT, Weiss S, Farrer LA; et al. (1996). "Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population". Hum. Mol. Genet. 4 (9): 1637–42. PMID 8541853.
  • Coyle B, Coffey R, Armour JA; et al. (1996). "Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4". Nat. Genet. 12 (4): 421–3. doi:10.1038/ng0496-421. PMID 8630497.
  • Sheffield VC, Kraiem Z, Beck JC; et al. (1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification". Nat. Genet. 12 (4): 424–6. doi:10.1038/ng0496-424. PMID 8630498.
  • Gausden E, Armour JA, Coyle B; et al. (1996). "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome". Clin. Endocrinol. (Oxf). 44 (4): 441–6. PMID 8706311.
  • Coucke P, Van Camp G, Demirhan O; et al. (1997). "The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q". Genomics. 40 (1): 48–54. doi:10.1006/geno.1996.4541. PMID 9070918.
  • Everett LA, Glaser B, Beck JC; et al. (1997). "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)". Nat. Genet. 17 (4): 411–22. doi:10.1038/ng1297-411. PMID 9398842.
  • Li XC, Everett LA, Lalwani AK; et al. (1998). "A mutation in PDS causes non-syndromic recessive deafness". Nat. Genet. 18 (3): 215–7. doi:10.1038/ng0398-215. PMID 9500541.
  • Van Hauwe P, Everett LA, Coucke P; et al. (1999). "Two frequent missense mutations in Pendred syndrome". Hum. Mol. Genet. 7 (7): 1099–104. PMID 9618166.
  • Coyle B, Reardon W, Herbrick JA; et al. (1999). "Molecular analysis of the PDS gene in Pendred syndrome". Hum. Mol. Genet. 7 (7): 1105–12. PMID 9618167.
  • Usami S, Abe S, Weston MD; et al. (1999). "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations". Hum. Genet. 104 (2): 188–92. PMID 10190331.
  • Scott DA, Wang R, Kreman TM; et al. (1999). "The Pendred syndrome gene encodes a chloride-iodide transport protein". Nat. Genet. 21 (4): 440–3. doi:10.1038/7783. PMID 10192399.
  • Masmoudi S, Charfedine I, Hmani M; et al. (2000). "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation". Am. J. Med. Genet. 90 (1): 38–44. PMID 10602116.
  • Reardon W, OMahoney CF, Trembath R; et al. (2000). "Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene". QJM : monthly journal of the Association of Physicians. 93 (2): 99–104. PMID 10700480.
  • Bogazzi F, Raggi F, Ultimieri F; et al. (2000). "A novel mutation in the pendrin gene associated with Pendred's syndrome". Clin. Endocrinol. (Oxf). 52 (3): 279–85. PMID 10718825.
  • Bidart JM, Mian C, Lazar V; et al. (2000). "Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues". J. Clin. Endocrinol. Metab. 85 (5): 2028–33. PMID 10843192.
  • Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". Eur. J. Hum. Genet. 8 (6): 437–42. doi:10.1038/sj.ejhg.5200489. PMID 10878664.
  • Lohi H, Kujala M, Kerkelä E; et al. (2001). "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger". Genomics. 70 (1): 102–12. doi:10.1006/geno.2000.6355. PMID 11087667.
  • Royaux IE, Wall SM, Karniski LP; et al. (2001). "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion". Proc. Natl. Acad. Sci. U.S.A. 98 (7): 4221–6. doi:10.1073/pnas.071516798. PMID 11274445.
  • Campbell C, Cucci RA, Prasad S; et al. (2001). "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations". Hum. Mutat. 17 (5): 403–11. doi:10.1002/humu.1116. PMID 11317356.

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