• Gene id: 91937

Gene Summary

• Gene Symbol: TIMD4   Gene   UCSC   Ensembl
• Aliases: SMUCKLER, TIM4
• Gene name: T cell immunoglobulin and mucin domain containing 4
• Alternate names: T-cell immunoglobulin and mucin domain-containing protein 4, T-cell immunoglobulin mucin receptor 4, T-cell membrane protein 4, TIM-4, TIMD-4,
• Gene location: 5q33.3 (14402575: 14489348)     Exons: 19     NC_000003.12
• OMIM: 610096

Protein Summary

• Protein general information: Q96H15  
  • Name: T cell immunoglobulin and mucin domain containing protein 4 (TIMD 4) (T cell immunoglobulin mucin receptor 4) (TIM 4) (T cell membrane protein 4)
  • Length: 378  
  • Mass: 41578
• Sequence:

  MSKEPLILWLMIEFWWLYLTPVTSETVVTEVLGHRVTLPCLYSSWSHNSNSMCWGKDQCPYSGCKEALIRTDGMR
  VTSRKSAKYRLQGTIPRGDVSLTILNPSESDSGVYCCRIEVPGWFNDVKINVRLNLQRASTTTHRTATTTTRRTT
  TTSPTTTRQMTTTPAALPTTVVTTPDLTTGTPLQMTTIAVFTTANTCLSLTPSTLPEEATGLLTPEPSKEGPILT
  AESETVLPSDSWSSVESTSADTVLLTSKESKVWDLPSTSHVSMWKTSDSVSSPQPGASDTAVPEQNKTTKTGQMD
  GIPMSMKNEMPISQLLMIIAPSLGFVLFALFVAFLLRGKLMETYCSQKHTRLDYIGDSKNVLNDVQHGREDEDGL
  FTL

• Structural information:
  • Protein Domains: (25..12-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106  
  • Prosite: PS50835
  • PDB: 5DZN 5F7F 5F7H
  • PDBsum: 5DZN 5F7F 5F7H
  • STRING: ENSP00000274532
• Other Databases: GeneCards:  TIMD4  Malacards:  TIMD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray