• Gene id: 64184

Gene Summary

• Gene Symbol: EDDM3B   Gene   UCSC   Ensembl
• Aliases: EP3B, FAM12B, HE3-BETA, HE3B, RAM2
• Gene name: epididymal protein 3B
• Alternate names: epididymal secretory protein E3-beta, family with sequence similarity 12, member B (epididymal), human epididymis-specific 3 beta, human epididymis-specific protein 3-beta, ribonuclease A M2,
• Gene location: 14q11.2 (20768426: 20770947)     Exons: 2     NC_000014.9
• Gene summary(Entrez): Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive c
• OMIM: 611582

Protein Summary

• Protein general information: P56851  
  • Name: Epididymal secretory protein E3 beta (Human epididymis specific protein 3 beta) (HE3 beta)
  • Length: 147  
  • Mass: 17,584
• Sequence:

  MASSLKIWGTLLALLCILCTLLVQSKEVSWREFMKQHYLSPSREFREYKCDVLMRENEALKDKSSHMFIYISWYK
  IEHICTSDNWMDRFRNAYVWVQNPLKVLKCHQENSKNSYTESRSFNYIEFHCSMDGYVDSIEDLKMVEPIGN

• Structural information:
  • Interpro: IPR029748  IPR036816  IPR023412  
  • STRING: ENSP00000314810
• Other Databases: GeneCards:  EDDM3B  Malacards:  EDDM3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Azoospermia	MIK: 17928628
Male factor infertility	MIK: 17928628
Oligoasthenoteratozoospermia	MIK: 24501866
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Azoospermia	MIK: 24501866
Azoospermia	MIK: 17928628
Azoospermia	MIK: 24501866
Oligoasthenoteratozoospermia	MIK: 24501866
Spermatogenic failure	MIK: 26662397
Unexplained azoospermia	MIK: 26662397
Teratozoospermia	MIK: 17327269
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17928628	Azoospermia				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A
24501866	Idiopathic azoospermia, oligoasthenoteratozoospermia			16 blood samples of men with an idiopathic oligoastenozoospermia or azoospermia	Male infertility	SPAG11B  SPAG11A EDDM3A and EDDM3B
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)