• Gene id: 79867

Gene Summary

• Gene Symbol: TCTN2   Gene   UCSC   Ensembl
• Aliases: C12orf38, JBTS24, MKS8, TECT2
• Gene name: tectonic family member 2
• Alternate names: tectonic-2,
• Gene location: 12q24.31 (123671107: 123708404)     Exons: 18     NC_000012.12
• Gene summary(Entrez): This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome ty
• OMIM: 613846

Protein Summary

• Protein general information: Q96GX1  
  • Name: Tectonic 2
  • Length: 697  
  • Mass: 76871
• Sequence:

  MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQDEAGILPIPTCGVLN
  NETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCILQTLLVSASHNSSCSAHLLIQVEIYANSSLT
  HNASENVTVIPNQVYQPLGPCPCNLTAGACDVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQLCSAGTTT
  RGVPDWFPFLCVQSPLANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYKQGDPIMTVKKAYFTIPQVSL
  AGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPKVIYEEATDLDKFITNTETPLNNGST
  PRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVVKFLSYNSGNEEELSGNPGYQLGKPVRALNI
  NRMNNVTTLHLWQSAGRGLCTSATFKPILFGENVLSGCLLEVGINENCTQLRENAVERLDSLIQATHVAMRGNSD
  YADLSDGWLEIIRVDAPDPGADPLASSVNGMCLDIPAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQC
  GLTCEHKADLLPISASVQFIKIPAQLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYYQGELHSQCVAKGLLL
  LLFLTLALFLSNPWTRICKAYS

• Structural information:
  • Interpro: IPR011677  IPR040354  
  • STRING: ENSP00000304941
• Other Databases: GeneCards:  TCTN2  Malacards:  TCTN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:1904491	protein localization to ciliary transition zone	IBA	biological process
GO:0036038	MKS complex	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0036038	MKS complex	ISS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	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:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Joubert syndrome	KEGG:H00530
Meckel syndrome	KEGG:H00261
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq