• Gene id: 56650

Gene Summary

• Gene Symbol: CLDND1   Gene   UCSC   Ensembl
• Aliases: C3orf4, GENX-3745, Z38
• Gene name: claudin domain containing 1
• Alternate names: claudin domain-containing protein 1, claudin domain containing 1 protein, membrane protein GENX-3745,
• Gene location: 3q11.2 (98523065: 98515472)     Exons: 6     NC_000003.12

Protein Summary

• Protein general information: Q9NY35  
  • Name: Claudin domain containing protein 1 (Membrane protein GENX 3745)
  • Length: 253  
  • Mass: 28603
  • Tissue specificity: Widely distributed in the adult CNS with highest expression in the corpus callosum, caudate nucleus, cerebral cortex, medulla, putamen, spinal cord, substantia nigra and subthalamic nucleus. Weak expression was detected in the adult he
• Sequence:

  MDNRFATAFVIACVLSLISTIYMAASIGTDFWYEYRSPVQENSSDLNKSIWDEFISDEADEKTYNDALFRYNGTV
  GLWRRCITIPKNMHWYSPPERTESFDVVTKCVSFTLTEQFMEKFVDPGNHNSGIDLLRTYLWRCQFLLPFVSLGL
  MCFGALIGLCACICRSLYPTIATGILHLLAGLCTLGSVSCYVAGIELLHQKLELPDNVSGEFGWSFCLACVSAPL
  QFMASALFIWAAHTNRKEYTLMKAYRVA

• Structural information:
  • Interpro: IPR042356  IPR004031  
  • STRING: ENSP00000421226
• Other Databases: GeneCards:  CLDND1  Malacards:  CLDND1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0009986	cell surface	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881