• Gene id: 146225

Gene Summary

• Gene Symbol: CMTM2   Gene   UCSC   Ensembl
• Aliases: CKLFSF2
• Gene name: CKLF like MARVEL transmembrane domain containing 2
• Alternate names: CKLF-like MARVEL transmembrane domain-containing protein 2, chemokine-like factor superfamily 2, chemokine-like factor superfamily member 2,
• Gene location: 16q21 (66579447: 66588274)     Exons: 4     NC_000016.10
• Gene summary(Entrez): This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [
• OMIM: 607885

Protein Summary

• Protein general information: Q8TAZ6  
  • Name: CKLF like MARVEL transmembrane domain containing protein 2 (Chemokine like factor superfamily member 2)
  • Length: 248  
  • Mass: 27,496
  • Tissue specificity: Expressed predominantly in testis (at protein level). Expression is lower in patients with obstructive azoospermia than in fertile controls and is not detected in patients with non-obstructive azoospermia. {ECO
• Sequence:

  MAPKAAKGAKPEPAPAPPPPGAKPEEDKKDGKEPSDKPQKAVQDHKEPSDKPQKAVQPKHEVGTRRGCRRYRWEL
  KDSNKEFWLLGHAEIKIRSLGCLIAAMILLSSLTVHPILRLIITMEISFFSFFILLYSFAIHRYIPFILWPISDL
  FNDLIACAFLVGAVVFAVRSRRSMNLHYLLAVILIGAAGVFAFIDVCLQRNHFRGKKAKKHMLVPPPGKEKGPQQ
  GKGPEPAKPPEPGKPPGPAKGKK

• Structural information:
  • Protein Domains: MARVEL. (82-204)
  • Interpro: IPR008253  
  • Prosite: PS51225
  • STRING: ENSP00000268595
• Other Databases: GeneCards:  CMTM2  Malacards:  CMTM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 17334588
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
May play a role in sperm- egg fusion	MIK: 28816268
May play a role in spermatogenesis	MIK: 28816268
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 17334588
Teratozoospermia	MIK: 17327269
Varicocele	MIK: 29263492
Male subfertility	MIK: 29263492

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17334588	Spermatogenic defects				Male infertility
17334588	Spermatogenic defects				Male infertility
28816268	May play a role in spermatogenesis, sperm- egg fusion				Male infertility
29263492	Varicocele, Male subfertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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)
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			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R