This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Accession: | NM_001173990 |
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基因名称: | TMEM216 |
基因别名: | HSPC244 |
基因描述: | Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 438 (查看编码区序列) |
翻译后氨基酸长度: | 145 (查看氨基酸序列) |
Transcript Variant: | This variant (2) uses an alternate splice site and initiates translation at an upstream start codon compared to variant 1. This variant also uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer N-terminus and lacks a short segment in the C-terminus, compared to isoform 1. |
人 TMEM216 (NM_016499) cDNA克隆 | transcript variant 1 |
人 TMEM216 (NM_001173990) cDNA克隆 | transcript variant 2 |
人 TMEM216 (NM_001173991) cDNA克隆 | transcript variant 3 |
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]