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, 2.2 times the average gene in this release. The sequence of this gene is defined by 254 GenBank accessions from 234 cDNA clones, some from thymus (seen 20 times), lung (10), leukopheresis (7), pooled germ cell tumors (5), spleen (5), t-lymphocytes (4), testis (4) and 30 other tissues. We annotate structural defects or features in 17 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 12 distinct gt-ag introns. Transcription produces 13 different mRNAs, 10 alternatively spliced variants and 3 unspliced forms. There are 5 probable alternative promotors and 4 non overlapping alternative last exons (see the diagram). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 3 cassette exons, overlapping exons with different boundaries.
Note that mRNA .eAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD).
Function: There are 120 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (OMIM: Multiple sclerosis, susceptibility to; severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive; Other sources: Celiac disease; Dermatitis, atopic; Multiple Sclerosis; Severe Combined Immunodeficiency; Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type), proposed to participate in pathways (Cytokine-cytokine receptor interaction, Hematopoietic cell lineage, IL-7 Signal Transduction, Jak-STAT signaling pathway, Primary immunodeficiency) and processes (B cell proliferation, cell growth, cell morphogenesis, homeostasis of number of cells, immunoglobulin production, lymph node development, negative regulation of T cell mediated cytotoxicity, positive regulation of T cell differentiation in the thymus). Proteins are expected to have molecular function (receptor activity) and to localize in various compartments (extracellular space, membrane, external side of plasma membrane, extracellular region, integral to membrane). Putative protein interactors have been described (FYN, IL2RG, IL7, JAK1, JAK3, LYN, P2RY8ANDCRLF2, P2RY8ANDCRLF2.1, PIK3R1, PTK2B, STAT3, STAT5A, STAT5B, TSLP).
Protein coding potential: 9 spliced mRNAs putatively encode good proteins, altogether 8 different isoforms (4 complete, 2 COOH complete, 2 partial), some containing Fibronectin type III domain [Pfam], some transmembrane domains [Psort2]; 3 of the 4 complete proteins appear to be secreted. The remaining 3 mRNA variants (1 spliced, 2 unspliced; 1 partial) appear not to encode good proteins. Finally proteins from this gene may be modulated by phosphorylation; ubiquitination, 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.
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