• Gene id: 79652

Gene Summary

• Gene Symbol: TMEM204   Gene   UCSC   Ensembl
• Aliases: C16orf30, CLP24
• Gene name: transmembrane protein 204
• Alternate names: transmembrane protein 204, claudin-like protein 24, claudin-like protein of 24 kDa,
• Gene location: 16p13.3 (26204609: 26205020)     Exons: 1     NC_000006.12
• Gene summary(Entrez): C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]
• OMIM: 611002

Protein Summary

• Protein general information: Q9BSN7  
  • Name: Transmembrane protein 204 (Claudin like protein 24)
  • Length: 226  
  • Mass: 24540
  • Tissue specificity: Highly expressed in lung, heart, kidney and placenta. Lower expression in thymus, spleen, liver, testis and ovary. Expressed in endothelial and restricted epithelial cell populations. {ECO
• Sequence:

  MTVQRLVAAAVLVALVSLILNNVAAFTSNWVCQTLEDGRRRSVGLWRSCWLVDRTRGGPSPGARAGQVDAHDCEA
  LGWGSEAAGFQESRGTVKLQFDMMRACNLVATAALTAGQLTFLLGLVGLPLLSPDAPCWEEAMAAAFQLASFVLV
  IGLVTFYRIGPYTNLSWSCYLNIGACLLATLAAAMLIWNILHKREDCMAPRVIVISRSLTARFRRGLDNDYVESP
  C

• Structural information:
  • Interpro: IPR038992  
  • STRING: ENSP00000454945
• Other Databases: GeneCards:  TMEM204  Malacards:  TMEM204

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001945	lymph vessel development	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	IBA	biological process
GO:0051145	smooth muscle cell differentiation	IBA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051145	smooth muscle cell differentiation	IEA	biological process
GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001945	lymph vessel development	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq