According to AceView, this gene is expressed at low level
, only 11.1% of the average gene in this release. The sequence
of this gene is defined by 13 GenBank accessions
from 9 cDNA clones, some from chondrosarcoma grade II (seen 3 times), left pelvis (3), poorly-differentiated endometrialadenocarcinoma, 2 pooled tumors (2), uterus (2), bone, osteosarcoma (once), human embryonic stem cells differentiated toan early endodermal cell type (once), knee (once) and 4 other tissues. We annotate structural defects or features
in one cDNA clone.
The gene contains 2 distinct gt-ag introns
. Transcription produces one mRNA.
There are 10 articles
specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases
(Chromosome Disorders; Neoplasm Metastasis) and proposed to participate in processes
(gastrulation, anatomical structure morphogenesis, dorsal/ventral neural tube patterning, ear development, embryonic skeletal system morphogenesis, forebrain development, multicellular organismal development, muscle organ morphogenesis, negative regulation of transcription from RNA polymerase II promoter, negative regulation of Wnt receptor signaling pathway, regulation of transcription, DNA-dependent). Proteins are expected to have molecular functions
(DNA binding, protein binding, sequence-specific DNA binding, transcription factor activity) and to localize
in various compartments (nucleus, transcription factor complex). Putative protein interactors
have been described (FOXA2, SMAD1, SMAD2, SMAD3).
The spliced mRNA putatively encodes a good protein
, containing Homeobox domain [Pfam]
. Finally proteins from this gene may be modulated by acetylation; phosphorylation; sumoylation
, as detailed at PhosphoSite.
Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12
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.
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. Details on tissue of origin for each intron and exon is available from the intron and exons table
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. Proteins supported by a single continuous cDNA sequence 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.
are depicted by broken lines; the height of the top of each intron reflects the relative number of clones supporting this intron. ]^[ A pink broken line
denotes an intron with standard boundaries (gt-ag or gc-ag) that is exactly supported (i.e. a cDNA sequence exactly matches the genome over 16 bp, 8 on both sides of the intron). ] ^ ] A blue broken line
denotes non-standard introns, exactly supported, but with non-standard at-ac or any other boundaries. ]-[ Pink
and ] - ] blue
straight lines represent 'fuzzy' introns of the standard and non-standard types respectively, those introns do not follow the 16 bp rule. Black straight lines ]-[denote gaps in the alignments.
Wide filled pink areas represent putative protein coding regions, narrow empty pink boxes represent the 5'UTR (on the left) and 3' UTR (on the right). Flags identify validated endings: cap site on the 5' side, polyadenylation site on the 3' side. Filled flags correspond to frequent events while empty flags have lesser supporting cDNAs (yet all are validated); at the 3' side, black flags are associated to the main AATAAA signal, blue flags
to any single letter variant of the main . More explanations are given in the gene help file