• Gene id: 9473

Gene Summary

• Gene Symbol: THEMIS2   Gene   UCSC   Ensembl
• Aliases: C1orf38, ICB-1, ICB1
• Gene name: thymocyte selection associated family member 2
• Alternate names: protein THEMIS2, basement membrane-induced, induced by contact to basement membrane 1 protein, protein ICB-1, thymocyte-expressed molecule involved in selection protein 2,
• Gene location: 1p35.3 (27872530: 27886684)     Exons: 6     NC_000001.11
• OMIM: 617856

SNPs

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

Protein Summary

• Protein general information: Q5TEJ8  
  • Name: Protein THEMIS2 (Induced by contact to basement membrane 1 protein) (Protein ICB 1) (Thymocyte expressed molecule involved in selection protein 2)
  • Length: 643  
  • Mass: 72049
  • Tissue specificity: Expressed in different endometrial adenocarcinoma cell lines and various other cell lines apart from the prostate cell line LNCaP and the ovarian cancer cell line BG1. {ECO
• Sequence:

  MEPVPLQDFVRALDPASLPRVLRVCSGVYFEGSIYEISGNECCLSTGDLIKVTQVRLQKVVCENPKTSQTMELAP
  NFQGYFTPLNTPQSYETLEELVSATTQSSKQLPTCFMSTHRIVTEGRVVTEDQLLMLEAVVMHLGIRSARCVLGM
  EGQQVILHLPLSQKGPFWTWEPSAPRTLLQVLQDPALKDLVLTCPTLPWHSLILRPQYEIQAIMHMRRTIVKIPS
  TLEVDVEDVTASSRHVHFIKPLLLSEVLAWEGPFPLSMEILEVPEGRPIFLSPWVGSLQKGQRLCVYGLASPPWR
  VLASSKGRKVPRHFLVSGGYQGKLRRRPREFPTAYDLLGAFQPGRPLRVVATKDCEGEREENPEFTSLAVGDRLE
  VLGPGQAHGAQGSDVDVLVCQRLSDQAGEDEEEECKEEAESPERVLLPFHFPGSFVEEMSDSRRYSLADLTAQFS
  LPCEVKVVAKDTSHPTDPLTSFLGLRLEEKITEPFLVVSLDSEPGMCFEIPPRWLDLTVVKAKGQPDLPEGSLPI
  ATVEELTDTFYYRLRKLPACEIQAPPPRPPKNQGLSKQRRHSSEGGVKSSQVLGLQQHARLPKPKAKTLPEFIKD
  GSSTYSKIPAHRKGHRPAKPQRQDLDDDEHDYEEILEQFQKTI

• Structural information:
  • Interpro: IPR025946  IPR039671  
  • STRING: ENSP00000363031
• Other Databases: GeneCards:  THEMIS2  Malacards:  THEMIS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray