• Gene id: 65062

Gene Summary

• Gene Symbol: TMEM237   Gene   UCSC   Ensembl
• Aliases: ALS2CR4, JBTS14
• Gene name: transmembrane protein 237
• Alternate names: transmembrane protein 237, amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein,
• Gene location: 2q33.1 (201643502: 201620185)     Exons: 14     NC_000002.12
• Gene summary(Entrez): 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. [provide
• OMIM: 606328

Protein Summary

• Protein general information: Q96Q45  
  • Name: Transmembrane protein 237 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein)
  • Length: 408  
  • Mass: 45526
• Sequence:

  MRTDSGARLEEGHLRPPRALPPVPSQDDIPLSRPKKKKPRTKNTPASASLEGLAQTAGRRPSEGNEPSTKELKEH
  PEAPVQRRQKKTRLPLELETSSTQKKSSSSSLLRNENGIDAEPAEEAVIQKPRRKTKKTQPAELQYANELGVEDE
  DIITDEQTTVEQQSVFTAPTGISQPVGKVFVEKSRRFQAADRSELIKTTENIDVSMDVKPSWTTRDVALTVHRAF
  RMIGLFSHGFLAGCAVWNIVVIYVLAGDQLSNLSNLLQQYKTLAYPFQSLLYLLLALSTISAFDRIDFAKISVAI
  RNFLALDPTALASFLYFTALILSLSQQMTSDRIHLYTPSSVNGSLWEAGIEEQILQPWIVVNLVVALLVGLSWLF
  LSYRPGMDLSEELMFSSEVEEYPDKEKEIKASS

• Structural information:
  • Interpro: IPR029409  
  • DIP: 56376
  • STRING: ENSP00000386264
• Other Databases: GeneCards:  TMEM237  Malacards:  TMEM237

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0035869	ciliary transition zone	IBA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030111	regulation of Wnt signaling pathway	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0120199	cone photoreceptor outer segment	IEA	cellular component
GO:0120200	rod photoreceptor outer segment	IEA	cellular component
GO:0030111	regulation of Wnt signaling pathway	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Joubert syndrome	PMID:22152675
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray