• Gene id: 25941

Gene Summary

• Gene Symbol: TPGS2   Gene   UCSC   Ensembl
• Aliases: C18orf10, HMFN0601, L17, PGs2
• Gene name: tubulin polyglutamylase complex subunit 2
• Alternate names: tubulin polyglutamylase complex subunit 2,
• Gene location: 18q12.2 (36829215: 36777646)     Exons: 11     NC_000018.10
• Gene summary(Entrez): This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isofo
• OMIM: 0

Protein Summary

• Protein general information: Q68CL5  
  • Name: Tubulin polyglutamylase complex subunit 2 (PGs2)
  • Length: 300  
  • Mass: 33318
• Sequence:

  MEEEASSPGLGCSKPHLEKLTLGITRILESSPGVTEVTIIEKPPAERHMISSWEQKNNCVMPEDVKNFYLMTNGF
  HMTWSVKLDEHIIPLGSMAINSISKLTQLTQSSMYSLPNAPTLADLEDDTHEASDDQPEKPHFDSRSVIFELDSC
  NGSGKVCLVYKSGKPALAEDTEIWFLDRALYWHFLTDTFTAYYRLLITHLGLPQWQYAFTSYGISPQAKQWFSMY
  KPITYNTNLLTEETDSFVNKLDPSKVFKSKNKIVIPKKKGPVQPAGGQKGPSGPSGPSTSSTSKSSSGSGNPTRK

• Structural information:
  • Interpro: IPR018958  IPR039231  
  • STRING: ENSP00000464780
• Other Databases: GeneCards:  TPGS2  Malacards:  TPGS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018095	protein polyglutamylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray