• Gene id: 57055

Gene Summary

• Gene Symbol: DAZ2   Gene   UCSC   Ensembl
• Aliases: pDP1678
• Gene name: deleted in azoospermia 2
• Alternate names: deleted in azoospermia protein 2,
• Gene location: Yq11.223 (23219456: 23291355)     Exons: 24     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
• OMIM: 400026

Protein Summary

• Protein general information: Q13117  
  • Name: Deleted in azoospermia protein 2
  • Length: 558  
  • Mass: 63,111
• Sequence:

  MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
  TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
  YLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPAYPRSPFQ
  VTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSSPFQVTAGYQLPVYNYQAFPAYPNSPFQVAT
  GYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQ
  LPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPV
  YNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPSSPFQVTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNY
  QMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD

• Structural information:
  • Protein Domains: RRM. (40-115)
    DAZ-like (170-190)
    DAZ-like (194-214)
    DAZ-like (218-238)
    DAZ-like (242-262)
    DAZ-like (266-286)
    DAZ-like (290-310)
    DAZ-like (314-334)
  • Interpro: IPR037366  IPR034778  IPR037551  IPR012677  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12672
  • STRING: ENSP00000371870
• Other Databases: GeneCards:  DAZ2  Malacards:  DAZ2

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:0007338	single fertilization	TAS	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:0003723	RNA binding	TAS	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:0007338	single fertilization	TAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0007338	single fertilization	TAS	biological process

Diseases

Associated diseases	References
Azoospermia	GAD: 16580401
Oligozoospermia	GAD: 16580401
Male factor infertility	MIK: 16963411
Oligozoospermia	MIK: 15347736
Sertoli cell only syndrome (SCOS)	MIK: 20823911
Spermatogenesis defects	MIK: 23512232
Spermatogenesis defects	MIK: 23512232
Azoospermia	MIK: 23388839
Azoospermia	MIK: 20873591
Oligozoospermia	MIK: 23388839
Male infertility	MIK: 21735657
Spermatogenic defects	MIK: 23512232

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23512232	Spermatogenic failure, infertility	DAZ copy cluster deletion	South C hinese	186 infertile, 190 normozoospermic fertile men	Male infertility	DAZ1 DAZ4 DAZ3
23388839	Azo/oligozoospermia	AZF microdeletions, AZFc-partial deletions (6 "gr/gr", 3 "b2/b3" and 1 "b1/b3"), DAZ1/DAZ2 deletions	Chilean	400 ( 218 with secretory azo/oligozoospermia and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis))	Male infertility	AZFc region
21735657	Idiopathic infertile men	gr/gr deletion		5 246 cases of idiopathic infertility and 4 380 controls	Male infertility	DAZ3/DAZ4
20873591	Azo/oligozoospermia	gr/gr (sY1291) deletion, b2/b3 (sY1191) deletion, sY1291deletion,sY1197 deletion, b1/b2 deletion, b1/b3 deletion	Chinese	236 (160 azoospermia or severe oligozoospermia, 76 controls)	Male infertility	AZFc region of the Y chromosome
20823911	Infertility	gr/gr subdeletions, b1/b3 subdeletions, b2/b3 subdeletions		658 (418 infertile (236 azoospermic and 182 oligospermic, 240 fertile men))	Male infertility	DAZ1 DAZ2 DAZ3
20663794	Infertility	gr/gr deletions, CDY1a+ DAZ1/2 genes were deleted	Japanes e	772 (395 infertile men and 377 fertile men)	Male infertility	CDY1 and DAZ copies
20039973	Infertility	gr/gr deletion, DAZ1/DAZ2+CDY1a or CDY1b deletion, DAZ3/DAZ4+CDY1b+BPY2.2, DAZ3/DAZ4+CDY1b+BPY2.3	Han Chi nese	2098 (1426 azoo/oligozoospermic and 672 normozoospermic)	Male infertility	CDY1 BPY2 DAZ1
19953495	Infertility	AZFb+c deletions, sY98/sY1206 deletion, AZFb deletions, P5/P3 deletion, DAZ1 and DAZ2 deletions, AZFc deletions		49 spermatogenesis dysfunction patients	Male infertility	AZFb AZFc region
18990391	Infertility	AZFc deletions, gr/gr-deletions, DAZ deletion,	Mixed e thnic b ackgrou nds ( M ore tha n 50% w ere of North A frican orgin ( Morocca n))	557 ( 364 infertile (115 azoospermia, 72 severe oligozoospermia, 159 moderate oligozoospermia, 18 mild oligozoospermia), 193 controls (84 known fertility, 109 normospermic))	Male infertility	(DAZ1/2 and DAZ3/4) CDY1
17416365	Infertility	DAZ genes and AZFc subdeletion	Chilean	172 (95 infertile, 77 controls ( 19 fertile donors, 31 normozoospermic donors with unknown fertility, 31 normozoospermic donors with unknown fertility))	Male infertility	DAZ genes
16963411	Infertility	DAZ gene copy deletions	Chinese	128 infertile, 287 normospermic	Male infertility
16674553	Infertility	gr/gr deletion, DAZ1/DAZ2 deletion	Chinese	176 (87 patients, 89 controls)	Male infertility
16580401	Infertility	AZFc deletions (gr/gr deletion)	Chinese	721 (485 patients (267 idiopathic azoospermia, 218oligozoospermia), 236 fertile men)	Male infertility	DAZ1/DAZ3/DAZ4
16491269	Infertility	gr/gr-DAZ1/DAZ2 deletion	Chinese	346 normozoospermic	Male infertility	gr/gr–DAZ1/DAZ2 deletion b2/b4–entire DAZ deletion
16078663	Infertility	DAZ1/DAZ2 deletion	Chinese	663 ( 210 controls, 453 patients (247 azoospermic and 206 severe oligozoospermic))	Male infertility	DAZ gene copy deletion
15744033	Infertility	gr/gr deletion, b2/b3 deletion	Caucasi an	600 (337 infertile (73non-obstructive azoospermia, 193 with severe oligozoospermia, 71 with moderate oligozoospermia) and 263 normozoospermic fertile men)	Male infertility	DAZ1/DAZ3/DAZ4
15520406	Infertility	34 partial AZFc deletions (32 gr/gr deletions)		300 infertile (254 unexplained infertility with low of absent sperm counts, 46 individuals with unexplained infertility and sperm counts of 5–1316106 spz/ml), 399 controls (210 unknown fertility status, 185 fertile men with one or more children, 4 normos	Male infertility	DAZ1/3/4 CDY1
15476166	Infertility	Partial copy deletion of DAZ gene family		573 (197 patients with azoospermia, 166 patients with severe oligozoospermia, and 210 fertile men)	Male infertility	DAZ1
15347736	Infertility	AZF and DAZ gene copy-specific deletion		232 (50 controls, 91 non-obstructive azoospermic males, 39 with Sertoli cell-only syndrome (SCOS) and 52 with meiotic arrest)	Male infertility	DAZ1
11870237	Infertility	DAZ gene copy specific deletion	Danish	170 (77 infertile patients without idiopathic oligozoospermia, 107 fertile controls )	Male infertility	DAZ1
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