• Gene id: 55573

Gene Summary

• Gene Symbol: CDV3   Gene   UCSC   Ensembl
• Aliases: H41
• Gene name: CDV3 homolog
• Alternate names: protein CDV3 homolog, carnitine deficiency-associated gene expressed in ventricle 3,
• Gene location: 3q22.1 (133573628: 133590273)     Exons: 8     NC_000003.12
• OMIM: 618789

Protein Summary

• Protein general information: Q9UKY7  
  • Name: Protein CDV3 homolog
  • Length: 258  
  • Mass: 27335
  • Tissue specificity: Expression levels correlate with those of HER-2/neu in breast cancer cells. {ECO
• Sequence:

  MAETEERSLDNFFAKRDKKKKKERSNRAASAAGAAGSAGGSSGAAGAAGGGAGAGTRPGDGGTASAGAAGPGAAT
  KAVTKDEDEWKELEQKEVDYSGLRVQAMQISSEKEEDDNEKRQDPGDNWEEGGGGGGGMEKSSGPWNKTAPVQAP
  PAPVIVTETPEPAMTSGVYRPPGARLTTTRKTPQGPPEIYSDTQFPSLQSTAKHVESRKDKEMEKSFEVVRHKNR
  GRDEVSKNQALKLQLDNQYAVLENQKSSHSQYN

• Structural information:
  • Interpro: IPR026806  
  • STRING: ENSP00000264993
• Other Databases: GeneCards:  CDV3  Malacards:  CDV3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
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