• Gene id: 80745

Gene Summary

• Gene Symbol: THUMPD2   Gene   UCSC   Ensembl
• Aliases: C2orf8
• Gene name: THUMP domain containing 2
• Alternate names: THUMP domain-containing protein 2, SAM-dependent methyltransferase, epididymis secretory sperm binding protein,
• Gene location: 2p22-p21 (39779275: 39736059)     Exons: 13     NC_000002.12
• OMIM: 611751

Protein Summary

• Protein general information: Q9BTF0  
  • Name: THUMP domain containing protein 2
  • Length: 503  
  • Mass: 56433
  • Tissue specificity: Expressed in a variety of tissues including brain, colon, gingiva, heart, kidney, liver, lung, placenta, small intestine, spleen and thymus. {ECO
• Sequence:

  MSEARGEPGSGPEAGARFFCTAGRGLEPFVMREVRARLAATQVEYISGKVFFTTCSDLNMLKKLKSAERLFLLIK
  KQFPLIISSVSKGKIFNEMQRLINEDPGSWLNAISIWKNLLELDAKKEKLSQRDDNQLKRKVGENEIIAKKLKIE
  QMQKIEENRDCQLEKQIKEETLEQRDFTTKSEKFQEEEFQNDIEKAIDTHNQNDLTFRVSCRCSGTIGKAFTAQE
  VGKVIGIAIMKHFGWKADLRNPQLEIFIHLNDIYSVVGIPVFRVSLASRAYIKTAGLRSTIAWAMASLADIKAGA
  FVLDPMCGLGTILLEAAKEWPDVYYVGADVSDSQLLGTWDNLKAAGLEDKIELLKISVIELPLPSESVDIIISDI
  PFGKKFKLGKDIKSILQEMERVLHVGGTIVLLLSEDHHRRLTDCKESNIPFNSKDSHTDEPGIKKCLNPEEKTGA
  FKTASTSFEASNHKFLDRMSPFGSLVPVECYKVSLGKTDAFICKYKKSHSSGL

• Structural information:
  • Protein Domains: (161..26-)
    (/note="THUMP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00529"-)
  • Interpro: IPR000241  IPR029063  IPR004114  
  • Prosite: PS51165
  • STRING: ENSP00000423933
• Other Databases: GeneCards:  THUMPD2  Malacards:  THUMPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0016423	tRNA (guanine) methyltransferase activity	IBA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function

Diseases

Associated diseases	References
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)