• Gene id: 26123

Gene Summary

• Gene Symbol: TCTN3   Gene   UCSC   Ensembl
• Aliases: C10orf61, JBTS18, OFD4, TECT3
• Gene name: tectonic family member 3
• Alternate names: tectonic-3,
• Gene location: 10q24.1 (95694142: 95663395)     Exons: 14     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively s
• OMIM: 613847

Protein Summary

• Protein general information: Q6NUS6  
  • Name: Tectonic 3
  • Length: 607  
  • Mass: 66157
• Sequence:

  MRTPQLALLQVFFLVFPDGVRPQPSSSPSGAVPTSLELQRGTDGGTLQSPSEATATRPAVPGLPTVVPTLVTPSA
  PGNRTVDLFPVLPICVCDLTPGACDINCCCDRDCYLLHPRTVFSFCLPGSVRSSSWVCVDNSVIFRSNSPFPSRV
  FMDSNGIRQFCVHVNNSNLNYFQKLQKVNATNFQALAAEFGGESFTSTFQTQSPPSFYRAGDPILTYFPKWSVIS
  LLRQPAGVGAGGLCAESNPAGFLESKSTTCTRFFKNLASSCTLDSALNAASYYNFTVLKVPRSMTDPQNMEFQVP
  VILTSQANAPLLAGNTCQNVVSQVTYEIETNGTFGIQKVSVSLGQTNLTVEPGASLQQHFILRFRAFQQSTAASL
  TSPRSGNPGYIVGKPLLALTDDISYSMTLLQSQGNGSCSVKRHEVQFGVNAISGCKLRLKKADCSHLQQEIYQTL
  HGRPRPEYVAIFGNADPAQKGGWTRILNRHCSISAINCTSCCLIPVSLEIQVLWAYVGLLSNPQAHVSGVRFLYQ
  CQSIQDSQQVTEVSLTTLVNFVDITQKPQPPRGQPKMDWKWPFDFFPFKVAFSRGVFSQKCSVSPILILCLLLLG
  VLNLETM

• Structural information:
  • Interpro: IPR011677  IPR040354  
  • STRING: ENSP00000483364
• Other Databases: GeneCards:  TCTN3  Malacards:  TCTN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0007224	smoothened signaling pathway	IMP	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Oral-facial-digital syndrome	KEGG:H00454
Joubert syndrome	KEGG:H00530
Oral-facial-digital syndrome	KEGG:H00454
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)