Human Gene TMEM237 (ENST00000409883.7) from GENCODE V44
Description: Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA. (from RefSeq NM_001044385) RefSeq Summary (NM_001044385): The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Gencode Transcript: ENST00000409883.7 Gencode Gene: ENSG00000155755.20 Transcript (Including UTRs) Position: hg38 chr2:201,620,186-201,643,503 Size: 23,318 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr2:201,624,255-201,643,400 Size: 19,146 Coding Exon Count: 13
ID:TM237_HUMAN DESCRIPTION: RecName: Full=Transmembrane protein 237; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein; FUNCTION: Component of the transition zone in primary cilia. Required for ciliogenesis. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L. DISEASE: Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly. SIMILARITY: Belongs to the TMEM237 family. SEQUENCE CAUTION: Sequence=AAY14694.1; Type=Erroneous gene model prediction; Sequence=AAY15056.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q96Q45
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
