• Gene id: 57135

Gene Summary

• Gene Symbol: DAZ4   Gene   UCSC   Ensembl
• Aliases: pDP1680, pDP1681
• Gene name: deleted in azoospermia 4
• Alternate names: deleted in azoospermia protein 4,
• Gene location: Yq11.23 (24833805: 24907039)     Exons: 29     NC_000024.10
• Gene summary(Entrez): This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important

Protein Summary

• Protein general information: Q86SG3  
  • Name: Deleted in azoospermia protein 4
  • Length: 579  
  • Mass: 64,785
• Sequence:

  MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
  TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
  YLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
  GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPP
  PPQFQNVWRNPNTETYLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPV
  YNYQPFPAYPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNY
  QAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAF
  PAYPNSAVQVTTGYQFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD

• Structural information:
  • Protein Domains: RRM (40-115)
    RRM (205-280)
    DAZ-like (335-355)
    DAZ-like (359-379)
    DAZ-like (384-404)
    DAZ-like (407-427)
    DAZ (431-451)
  • Interpro: IPR037366  IPR034778  IPR037551  IPR012677  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12672
  • STRING: ENSP00000401363
• Other Databases: GeneCards:  DAZ4  Malacards:  DAZ4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process

Diseases

Associated diseases	References
Oligozoospermia	GAD: 16963411
Dyszoospermia	MIK: 20873591
Azoospermia	MIK: 20823911
Male factor infertility	MIK: 23512232
Spermatogenesis defects	MIK: 20823911
Sertoli cell only syndrome (SCOS)	MIK: 17416365
Oligozoospermia	MIK: 21837945
Male infertility	MIK: 21735657
Non obstructive azoospermia	MIK: 23869807
Sertoli cell only syndrome	MIK: 23869807
Spermatogenesis impairment	MIK: 26931020
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23512232	Infertility	gr/gr-DAZ3/DAZ4 deletion	South C hinese	4 controls, 1 infertile	Male infertility	DAZ1 DAZ2
21837945	Infertility	sY1206 and DAZ3/DAZ4 copies deletion	Han Chi nese	449 (164 oligozoospermia, 105 controls, 180 with AZFc microdeletion	Male infertility
20873591	Infertility	DAZ3/DAZ4 deletion		226 (160 azoospermia or oligozoospermia ), 76 controls	Male infertility	DAZ1 DAZ2
20823911	Infertility	gr/gr, b1/b3 , b2/b3 subdeletions	Indian	1658 (236 azoospermic, 182 oligospermic, 240 controls)	Male infertility	DAZ1 DAZ2
17416365	Infertility	gr/gr subdeletions	Chilean	172 (71spermatogenic impairment, 24reduced testicular volume and elevated serum FSH levels, 77controls (50 fertile, 27 with azoospermia and normal spermatogenesis))	Male infertility	DAZ1/DAZ2
21735657	Male infertility	gr/gr deletion		9626 (5246 cases of idiopathic infertility, 4380 controls)	Male infertility
24878370	Male infertility		Tunisia n	356 (241 infertile men (74 azoospermic, 76 oligozoospermic, 91 normozoospermic), 115 fertile healthy males)	Male infertility
27457284	Male infertility	AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b)	Tunisia n	356 (241 infertile men,115 fertile healthy males)	Male infertility
26931020	Spermatogenesis impairment, Male infertility	b2/b3-DAZ1/DAZ2, 3 gr/ gr-DAZ1/DAZ2, 10 gr/gr-DAZ3/DAZ4 deletions, 1 b2/b3- DAZ3/DAZ4 deletions		216 (121 infertile men with different degrees of spermatogenic impairment, 95 healthy donors)	Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)