Description: hypothetical protein LOC340533 RefSeq Summary (NM_001008537): An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg18 chrX:73,870,137-74,061,709 Size: 191,573 Total Exon Count: 4 Strand: - Coding Region Position: hg18 chrX:73,875,965-73,882,210 Size: 6,246 Coding Exon Count: 3
ID:K2022_HUMAN DESCRIPTION: RecName: Full=Uncharacterized protein KIAA2022; TISSUE SPECIFICITY: Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent. DISEASE: Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation (MR). Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022 gene. KIAA2022 protein is no longer expressed in these patients lymphocytes. SEQUENCE CAUTION: Sequence=BAC23118.1; Type=Erroneous initiation;
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q5QGS0
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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
Sequence and Links to Tools and Databases 
