Description: Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 2, mRNA. RefSeq Summary (NM_001099272): This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]. Transcript (Including UTRs) Position: hg19 chr6:38,136,227-38,607,924 Size: 471,698 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr6:38,142,761-38,565,870 Size: 423,110 Coding Exon Count: 10
ID:BTBD9_HUMAN DESCRIPTION: RecName: Full=BTB/POZ domain-containing protein 9; TISSUE SPECIFICITY: Highly expressed in kidney and moderately expressed in all other adult and fetal tissues. Moderately expressed in all specific brain regions examined. DISEASE: Genetic variations in BTBD9 may be associated with susceptibility to restless legs syndrome type 6 (RLS6) [MIM:611185]; also called periodic limb movements in sleep. Restless legs syndrome (RLS) is a neurologic disorder characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain. SIMILARITY: Contains 1 BTB (POZ) domain. SEQUENCE CAUTION: Sequence=BAB67773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): BTBD9 CDC HuGE Published Literature: BTBD9 Positive Disease Associations: Basophils
, restless legs syndrome Related Studies:
restless legs syndrome Stefansson ,et al. 2007, A genetic risk factor for periodic limb movements in sleep, The New England journal of medicine 2007 357- 7 : 639-47.
[PubMed 17634447]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96Q07
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
