🧬 基因注释：GNAS
官方名称：GNAS complex locus
功能摘要：This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012].
- HNRNPA2B1 综合评分: 0.494 · 证据 2 条
- HNRNPH1 综合评分: 0.494 · 证据 2 条
- HNRNPU 综合评分: 0.424 · 证据 2 条
- MBNL2 综合评分: 0.414 · 证据 1 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- Rnps1 综合评分: 0.348 · 证据 1 条
- PCBP1 综合评分: 0.324 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
该基因暂无关联疾病记录