Caenorhabditis elegans gene hum-2, encoding heavy chain, Unconventional Myosin.
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SUMMARY back to top
Summary
[Wormbase] hum-2 is orthologous to the human gene MYOSIN HEAVY CHAIN 12 (MYO5A; OMIM:160777), which when mutated leads to disease.
Wormbase predicts 5 models, but Caenorhabditis elegans cDNA sequences in GenBank, 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 7 spliced variants
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AceView summary
Expression: According to AceView, this gene is expressed at high level, 2.5 times the average gene in this release, mostly from L1 larvae to adult [Kohara cDNAs]. The sequence of this gene is defined by 33 cDNA clones, some from whole animal (seen 2 times). We annotate structural defects or features in 2 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 18 distinct introns (16 gt-ag, 1 gc-ag, 1 other). Transcription produces at least 7 alternatively spliced mRNAs. There are 4 probable alternative promotors, 2 non overlapping alternative last exons and 7 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by by truncation of the 5' end, truncation of the 3' end, presence or absence of a cassette exon, overlapping exons with different boundaries, splicing versus retention of one intron.
Protein coding potential: The 7 spliced mRNAs putatively encode good proteins, altogether 9 different isoforms (4 complete, 7 COOH complete), some containing domains Dilute, IQ calmodulin-binding region, Myosin head, motor region [Pfam], a coiled coil stretch [Psort2]. 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 d).
Function: There is one article specifically referring to this gene in PubMed. In addition we point below to 3 abstracts. Proteins are expected to have molecular functions (ATP binding activity, motor activity) and to localize in myosin. No phenotype has yet been reported to our knowledge: this gene's in vivo function is yet unknown.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12
Map on chromosome CHROMOSOME_V, links to other databases and other names back to top ?
Map: This gene hum-2 maps on chomosome V at position +1.89 (interpolated). In AceView, it covers 13.93 kb, from 9386127 to 9400051 (WS190), on the direct strand.
Links to: WormBase, NextDB, RNAiDB.
Other names: The gene is also known in Wormgenes/AceView by its positional name 5J879, in Wormbase by its cosmid.number name F36D4.3, in NextDB, the Nematode expression pattern database, as CEYK190.
Closest AceView homologs in other species back to top ?
The closest human genes, according to BlastP, are the AceView genes MYO5BandACAA2 (e=0.0), MYO5A (e=0.0), MYO5C (e=0.0).
The closest mouse genes, according to BlastP, are the AceView genes Myo5b (e=0.0), Myo5a (e=0.0), Myo5c (e=0.0).
The closest A.thaliana genes, according to BlastP, are the AceView genes MYA1 (e= 10^-165), MYA2 (e= 10^-162), XIC (e= 10^-161), XIK (e= 10^-160), XIH (e= 10^-160), XIF (e= 10^-160), XIA (e= 10^-160), XIB (e= 10^-160), XI-I (e= 10^-159), XIE (e= 10^-159), XID (e= 10^-157), XIG (e= 10^-151), XIJ (e= 10^-149), ATATM (e= 10^-146), VIIIA (e= 10^-146)
Complete gene on genome diagram:               (in true scale, with colored introns) back to top
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 cDNA clones supporting each intron. Superimposed introns of the same color are identical, of different colors are different.
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. Details on tissue of origin for each intron and exon is available from the intron and exons table. Good predicted proteins are in pink, yellow proteins may be partial or unconvincing, green are uORFs. Proteins supported by a single continuous GenBank accession lead to underlining the name/ending of the variant. Names not underlined result from cDNA concatenation in the coding region and should be experimentally checked.
More legend
Sequences back to top
What is known about the gene and its neighbors on chromosome CHROMOSOME_V back to top
ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         (see the Legend)
Annotated mRNA diagrams back to top
Bibliography back to top
? Gene Summary Gene on genome mRNA:.a, .b, .c, .d, .e, .f, .g Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function and related genes CI

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function and 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 and 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 all variants, their summarized annotations, 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. Merci !