Homo sapiens complex locus KIAA0802, encoding KIAA0802.
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SUMMARY back to top
RefSeq annotates one representative transcript (NM included in AceView variant.a), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 14 spliced variants.

AceView synopsis, each blue text links to tables and details
Note that this locus is complex: it appears to produce several proteins with no sequence overlap.
Expression: According to AceView, this gene is expressed at high level, 1.4 times the average gene in this release. The sequence of this gene is defined by 177 GenBank accessions from 146 cDNA clones, some from cerebellum (seen 28 times), brain (23), liver (9), eye (7), testis (6), whole brain (6), chondrosarcoma (5) and 61 other tissues. We annotate structural defects or features in 7 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 32 distinct gt-ag introns. Transcription produces 20 different mRNAs, 14 alternatively spliced variants and 6 unspliced forms. There are 11 probable alternative promotors, 5 non overlapping alternative last exons and 6 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 7 cassette exons, overlapping exons with different boundaries, splicing versus retention of one intron. 155 bp of this gene are antisense to spliced gene LOC100287082, raising the possibility of regulated alternate expression.
Note that mRNA .eAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD).
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant aAug10, dAug10, eAug10).
Function: There are 5 articles specifically referring to this gene in PubMed. Proteins are expected to localize in various compartments (cytoplasm, membrane, nucleus). A putative protein interactor has been described (MARK2).
Protein coding potential: 12 spliced and 3 unspliced mRNAs putatively encode good proteins, altogether 15 different isoforms (9 complete, 6 partial), some containing some transmembrane domains, a coiled coil stretch [Psort2]. The remaining 5 mRNA variants (2 spliced, 3 unspliced; 1 partial) appear not to encode good proteins. Finally proteins from this gene may be modulated by acetylation; di-methylation; phosphorylation, as detailed at PhosphoSite.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12.
Map on chromosome 18, links to other databases and other names
Map: This gene KIAA0802 maps on chromosome 18, at 18p11.22 according to Entrez Gene. In AceView, it covers 126.27 kb, from 8706513 to 8832782 (NCBI 37, August 2010), on the direct strand.
Links to: manual annotations from PhosphoSite, the SNP view, gene overviews from Entrez Gene 23255, GeneCards, expression data from ECgene, UniGene, molecular and other annotations from UCSC, or our GOLD analysis.
The previous AceView annotation is here.
Other names: The gene is also known as KIAA0802, LOC23255, rerterbu or bykley, spawsher. It has been described as hypothetical protein LOC23255.
Closest AceView homologs in other species ?
The closest mouse gene, according to BlastP, is the AceView gene 1110012J17Rik (e=0.0).
The closest C.elegans gene, according to BlastP, is the AceView/WormGene XM453 (e=2 10-12).
The closest A.thaliana gene, according to BlastP, is the AceView gene PPI1 (e=0.66)
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
RNA-seq gene expression profile across 16 selected tissues from the Non-Human Primates Reference Transcriptome Resource (link to NHPRTR project).
- Primates: Apes (HUM: Human (Illumina BodyMap 2), CHP: Chimpanzee), Old World monkeys (PTM: Pig-Tailed Macaque, JMI Japanese Macaque, RMI Rhesus Macaque Indian, RMC Rhesus Macaque Chinese, CMM Cynomolgus Macaque Mauritian, CMC Cynomolgus Macaque Chinese, BAB Olive Baboon, SMY Sooty Mangabey); New World monkeys (MST common Marmoset, SQM Squirrel Monkey, OWL Owl Monkey); and Lemurs (MLM Mouse Lemur, RTL Ring-Tailed Lemur).
- The level for significantly expressed genes is color coded in 8 equal sized bins (light to dark green). Light gray is for weak not-accurately measured expression (2 to 8 reads above intergenic background); dark gray for no expression or no sequence conservation (0 read in gene). The plot to the right shows the distribution of measured expression values in all tissues for all genes (blue) and for this gene (green), in Magic index = log2(1000 sFPKM).
You may also examine the strand-specific genome coverage plots on the experimental AceView/Magic hub at UCSC, by tissue or by species. Tracks may be slow to load; please reload if some tracks come up yellow-greenish, and thanks to UCSC for the great work!.
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          Complete gene on genome diagram: back to top
Please choose between the zoomable GIF version., and the Flash version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Compact gene diagram back to top
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
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Sequences: click on the numbers to get the DNA back to top
mRNA variant mRNA matching the genome Best predicted protein 5' UTR 3' UTR uORF Upstream sequence Transcription
unit
pre-mRNA
Downstream sequence
aAug10 6088 bp 1586 aa 138 bp 1189 bp 48 bp 2kb including Promoter 115403 bp 1kb
bAug10 6009 bp 1545 aa 182 bp 1189 bp 2kb possibly including promoter 125367 bp 1kb
cAug10 3962 bp 991 aa 49 bp 937 bp 2kb possibly including promoter 43104 bp 1kb
dAug10 4129 bp 550 aa 1285 bp 1191 bp 111 bp 2kb including Promoter 9446 bp 1kb
eAug10 3661 bp 509 aa 687 bp 1444 bp 243 bp 2kb including Promoter 31070 bp 1kb
fAug10 614 bp 204 aa 2kb 71349 bp 1kb
gAug10 1554 bp 204 aa 9 bp 930 bp 2kb including Promoter 2646 bp 1kb
hAug10 579 bp 163 aa 89 bp 138 bp 2kb including Promoter 8114 bp 1kb
iAug10 910 bp 162 aa 253 bp 168 bp 129 bp 2kb including Promoter 6639 bp 1kb
jAug10-unspliced 552 bp 160 aa 70 bp 2kb including Promoter 552 bp 1kb
kAug10 581 bp 158 aa 79 bp 25 bp 2kb including Promoter 60603 bp 1kb
lAug10-unspliced 571 bp 157 aa 98 bp 2kb including Promoter 571 bp 1kb
mAug10 463 bp 154 aa 2kb 1309 bp 1kb
nAug10 562 bp 140 aa 142 bp 2kb possibly including promoter 12595 bp 1kb
oAug10-unspliced 2855 bp 121 aa 519 bp 1970 bp 2kb possibly including promoter 2855 bp 1kb
pAug10-unspliced 2951 bp 92 aa 487 bp 2185 bp 2kb including Promoter 4617 bp 1kb
qAug10-unspliced 988 bp 19 aa 157 bp 771 bp 2kb 988 bp 1kb
rAug10-unspliced 776 bp 84 aa 408 bp 113 bp 2kb 776 bp 1kb
sAug10 576 bp 19 aa 372 bp 144 bp 2kb including Promoter 2670 bp 1kb
tAug10 372 bp 47 aa 230 bp 2kb including Promoter 833 bp 1kb

Gene neighbors and Navigator on chromosome 18p11.22 back to top
ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         Read more...
Annotated mRNA diagrams back to top
Bibliography:               5 articles in PubMed back to top
? Gene Summary Gene on genome mRNA:.a, .b, .c, .d, .e, .f, .g, .h, .i, .j-u, .k, .l-u, .m, .n, .o-u, .p-u, .q-u, .r-u, .s, .t Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function, regulation, related genes CI

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The 'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The 'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To compare alternative variants, their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the 'Alternative mRNAs features' tab. To see a specific mRNA variant diagram, sequence and annotation, click the variant name in the 'mRNA' tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the 'Expression tissue'.

If you know more about this gene, or found errors, please share your knowledge. Thank you !