• Gene id: 84314

Gene Summary

• Gene Symbol: TMEM107   Gene   UCSC   Ensembl
• Aliases: GRVS638, JBTS29, MKS13, PRO1268
• Gene name: transmembrane protein 107
• Alternate names: transmembrane protein 107,
• Gene location: 17p13.1 (8176379: 8172456)     Exons: 14     NC_000017.11
• Gene summary(Entrez): This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of
• OMIM: 616183

Protein Summary

• Protein general information: Q6UX40  
  • Name: Transmembrane protein 107
  • Length: 140  
  • Mass: 15503
• Sequence:

  MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVTLGLFAVELAGFLSGV
  SMFNSTQSLISIGAHCSASVALSFFIFERWECTTYWYIFVFCSALPAVTEMALFVTVFGLKKKPF

• Structural information:
  • Interpro: IPR029248  
  • DIP: 61993
  • STRING: ENSP00000314116
• Other Databases: GeneCards:  TMEM107  Malacards:  TMEM107

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035869	ciliary transition zone	IBA	cellular component
GO:0036038	MKS complex	IBA	cellular component
GO:1904491	protein localization to ciliary transition zone	IBA	biological process
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0060271	cilium assembly	IDA	biological process
GO:0036038	MKS complex	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0035869	ciliary transition zone	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:1904491	protein localization to ciliary transition zone	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0021532	neural tube patterning	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Oral-facial-digital syndrome	KEGG:H00454
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Oral-facial-digital syndrome	KEGG:H00454
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray