• Gene id: 83887

Gene Summary

• Gene Symbol: TTLL2   Gene   UCSC   Ensembl
• Aliases: C6orf104, NYD-TSPG, dJ366N23.3
• Gene name: tubulin tyrosine ligase like 2
• Alternate names: probable tubulin polyglutamylase TTLL2, testis-specific protein NYD-TSPG, tubulin tyrosine ligase-like family, member 2, tubulin--tyrosine ligase-like protein 2,
• Gene location: 6q27 (167325064: 167342709)     Exons: 10     NC_000006.12

Protein Summary

• Protein general information: Q9BWV7  
  • Name: Probable tubulin polyglutamylase TTLL2 (EC 6. . . ) (Testis specific protein NYD TSPG) (Tubulin tyrosine ligase like protein 2)
  • Length: 592  
  • Mass: 67336
  • Tissue specificity: Testis. {ECO
• Sequence:

  MRGRDLCSSTQSQALGSLRTTTPAFTLNIPSEANHTEQPPAGLGARLQEAGVSIPPRRGRPTPTLEKKKKPHLMA
  EDEPSGALLKPLVFRVDETTPAVVQSVLLERGWNKFDKQEQNAEDWNLYWRTSSFRMTEHNSVKPWQQLNHHPGT
  TKLTRKDCLAKHLKHMRRMYGTSLYQFIPLTFVMPNDYTKFVAEYFQERQMLGTKHSYWICKPAELSRGRGILIF
  SDFKDFIFDDMYIVQKYISNPLLIGRYKCDLRIYVCVTGFKPLTIYVYQEGLVRFATEKFDLSNLQNNYAHLTNS
  SINKSGASYEKIKEVIGHGCKWTLSRFFSYLRSWDVDDLLLWKKIHRMVILTILAIAPSVPFAANCFELFGFDIL
  IDDNLKPWLLEVNYSPALTLDCSTDVLVKRKLVHDIIDLIYLNGLRNEGREASNATHGNSNIDAAKSDRGGLDAP
  DCLPYDSLSFTSRMYNEDDSVVEKAVSVRPEAAPASQLEGEMSGQDFHLSTREMPQSKPKLRSRHTPHKTLMPYA
  SLFQSHSCKTKTSPCVLSDRGKAPDPQAGNFVLVFPFNEATLGASRNGLNVKRIIQELQKLMNKQHS

• Structural information:
  • Protein Domains: (84..42-)
    (/note="TTL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00568"-)
  • Interpro: IPR013815  IPR004344  
  • Prosite: PS51221
  • STRING: ENSP00000239587
• Other Databases: GeneCards:  TTLL2  Malacards:  TTLL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005929	cilium	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0070740	tubulin-glutamic acid ligase activity	IBA	molecular function
GO:0018095	protein polyglutamylation	IBA	biological process
GO:0015631	tubulin binding	IBA	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)