Symbol
Name
ID
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Synonyms
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Pds, pendrin
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Genetic Map
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(11)
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Alleles
and
phenotypes
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All alleles(3) :
Targeted, knock-out(1)
Gene trapped(1)
Spontaneous(1)
| Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (2)
Phenotype Images (3)
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Polymorphisms
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SNPs within 2kb(111 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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Literature Summary: (8 records)
Data Summary:
Assays (3)
Results (15)
Tissues (9)
Theiler Stages: 21,22,23,24,25,26,28
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Assay Type |
Assays |
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Results |
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Western blot |
2 |
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10 |
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RT-PCR |
1 |
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5 |
cDNA source data(4)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(5)
cDNA(4)
Primer pair(1)
Antibodies(1)
Microarray probesets(2)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR001902 |
Sulphate anion transporter |
| IPR002645 |
Sulphate transporter/antisigma-factor antagonist STAS |
| IPR011547 |
Sulphate transporter |
| IPR018045 |
Sulphate anion transporter, conserved site |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:57104
Everett LA et al.,
"Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear."
Proc Natl Acad Sci U S A 1999 Aug 17;96(17):9727-32
(Latest)
J:154001
Wangemann P et al.,
"Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression."
Am J Physiol Renal Physiol 2009 Nov;297(5):F1435-47
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All references(28)
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