Q13117 (DAZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Deleted in azoospermia protein 2

Gene names

Name:

DAZ2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	558 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation.
Subunit structure	Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3. Ref.6 Ref.8 Ref.9 Ref.10
Subcellular location	Cytoplasm. Nucleus. Note: Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis. Ref.7
Tissue specificity	Testis specific. Ref.2
Domain	The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
Polymorphism	The number as well as the precise structure of the DAZ proteins probably differs within the population.
Involvement in disease	Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note: The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. Ref.12 Ref.13 Ref.14
Miscellaneous	The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives their indidual characterization difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a DAZ protein involve all the 4 proteins.
Sequence similarities	Belongs to the RRM DAZ family. Contains 15 DAZ-like domains. Contains 1 RRM (RNA recognition motif) domain.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
Ligand	RNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW single fertilization Traceable author statement PubMed 8896558. Source: ProtInc spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	RNA binding Traceable author statement Ref.1. Source: ProtInc nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13117-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q13117-2)

The sequence of this isoform differs from the canonical sequence as follows:
     198-389: Missing.

Isoform 3 (identifier: Q13117-3)

The sequence of this isoform differs from the canonical sequence as follows:
     321-344: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 558	558	Deleted in azoospermia protein 2		PRO_0000081555
Regions
	Domain	40 – 115	76	RRM
	Domain	170 – 190	21	DAZ-like 1
	Domain	194 – 214	21	DAZ-like 2
	Domain	218 – 238	21	DAZ-like 3
	Domain	242 – 262	21	DAZ-like 4
	Domain	266 – 286	21	DAZ-like 5
	Domain	290 – 310	21	DAZ-like 6
	Domain	314 – 334	21	DAZ-like 7
	Domain	338 – 358	21	DAZ-like 8
	Domain	362 – 382	21	DAZ-like 9
	Domain	386 – 406	21	DAZ-like 10
	Domain	410 – 430	21	DAZ-like 11
	Domain	434 – 454	21	DAZ-like 12
	Domain	458 – 478	21	DAZ-like 13
	Domain	482 – 502	21	DAZ-like 14
	Domain	506 – 526	21	DAZ-like 15
Natural variations
	Alternative sequence	198 – 389	192	Missing in isoform 2.		VSP_009452
	Alternative sequence	321 – 344	24	Missing in isoform 3.		VSP_009453
Experimental info
	Sequence conflict	341	1	N → S in AAF91329. Ref.2
	Sequence conflict	344	1	V → F in AAF91329. Ref.2
	Sequence conflict	407	1	A → P in AAB02393. Ref.1
	Sequence conflict	420	1	T → A in AAB02393. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 16, 2008. Version 3. Checksum: D354ED2CC2AB6C35	FASTA	558	63,111
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 190 200 210 220 230 240 GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF 250 260 270 280 290 300 PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT 310 320 330 340 350 360 GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP NSPVQVTTGY QLPVYNYQAF 370 380 390 400 410 420 PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT 430 440 450 460 470 480 GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF 490 500 510 520 530 540 PAYPSSPFQV TTGYQLPVYN YQAFPAYPNS AVQVTTGYQF HVYNYQMPPQ CPVGEQRRNL 550 WTEAYKWWYL VCLIQRRD
	Isoform 2 [UniParc]. Checksum: 33E9CA774B6EE2E6	FASTA	366	41,287
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 190 200 210 220 230 240 GCQLLVYNYQ EYPTYPDSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF 250 260 270 280 290 300 PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT 310 320 330 340 350 360 GYQLPVYNYQ AFPAYPNSAV QVTTGYQFHV YNYQMPPQCP VGEQRRNLWT EAYKWWYLVC LIQRRD
	Isoform 3 [UniParc]. Checksum: 49FE64BA5494909B	FASTA	534	60,411
	10 20 30 40 50 60 MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF 70 80 90 100 110 120 GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 130 140 150 160 170 180 ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA YPHSPGQVIT 190 200 210 220 230 240 GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP RSPFQVTAGY QLPVYNYQAF 250 260 270 280 290 300 PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT 310 320 330 340 350 360 GYQFPVYNYQ AFPAYPNSPV QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF 370 380 390 400 410 420 PAYPSSPFQV TTGYQLPVYN YQAFPAYPSS PFQVTTGYQL PVYNYQAFPA YPSSPFQVTT 430 440 450 460 470 480 GYQLPVYNYQ AFPAYPSSPF QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF 490 500 510 520 530 PAYPNSAVQV TTGYQFHVYN YQMPPQCPVG EQRRNLWTEA YKWWYLVCLI QRRD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene." Reijo R.A., Lee T.Y., Salo P., Alagappan R., Brown L.G., Rosenberg M., Rozen S., Jaffe T., Straus D., Hovatta O., de la Chapelle A., Silber S., Page D.C. Nat. Genet. 10:383-393(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Testis.
[2]	"Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome." Saxena R., de Vries J.W.A., Repping S., Alagappan R.K., Skaletsky H., Brown L.G., Ma P., Chen E., Hoovers J.M.N., Page D.C. Genomics 67:256-267(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), GENE STRUCTURE, GENE NOMENCLATURE, TISSUE SPECIFICITY. Tissue: Testis.
[3]	"DAZ2 gene testicular transcript with 14 exon 7 variants expressed in human testicular tissue." Vogt P.H., Hirschmann P. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Testis.
[4]	"The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A. , Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. Nature 423:825-837(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[6]	"Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1." Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., Yen P.H. Genomics 65:266-273(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DAZAP1 AND DAZAP2.
[7]	"DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice." Reijo R.A., Dorfman D.M., Slee R., Renshaw A.A., Loughlin K.R., Cooke H., Page D.C. Biol. Reprod. 63:1490-1496(2000) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[8]	"In vivo and in vitro analysis of homodimerisation activity of the mouse Dazl1 protein." Ruggiu M., Cooke H.J. Gene 252:119-126(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DAZL.
[9]	"A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans." Xu E.Y., Moore F.L., Reijo Pera R.A. Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BOLL.
[10]	"Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins." Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J., Dorfman D.M., Reijo Pera R.A. Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PUM2; DZIP1 AND DZIP3.
[11]	"Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis?" Vogt P.H., Fernandes S. APMIS 111:115-127(2003) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[12]	"Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome." Moro E., Ferlin A., Yen P.H., Franchi P.G., Palka G., Foresta C. J. Clin. Endocrinol. Metab. 85:4069-4073(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[13]	"High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia." Fernandes S., Huellen K., Goncalves J., Dukal H., Zeisler J., Rajpert De Meyts E., Skakkebaek N.E., Habermann B., Krause W., Sousa M., Barros A., Vogt P.H. Mol. Hum. Reprod. 8:286-298(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
[14]	"Partial DAZ deletions in a family with five infertile brothers." Gianotten J., Hoffer M.J.V., De Vries J.W.A., Leschot N.J., Gerris J., van der Veen F. Fertil. Steril. 79:1652-1655(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SPGFY2.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U21663 mRNA. Translation: AAB02393.1. AF248480 mRNA. Translation: AAF91329.1. AF414184 mRNA. Translation: AAL24502.1. AC006338 Genomic DNA. No translation available. BC113006 mRNA. Translation: AAI13007.1.
IPI	IPI00006498. IPI00382559. IPI00401964.
PIR	I38963.
RefSeq	NP_001005785.1. NM_001005785.2. NP_001005786.2. NM_001005786.2. NP_065096.2. NM_020363.3.
UniGene	Hs.592257.
3D structure databases
ProteinModelPortal	Q13117.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000371870.
PTM databases
PhosphoSite	Q13117.
Polymorphism databases
DMDM	218512098.
Proteomic databases
PaxDb	Q13117.
PRIDE	Q13117.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382306; ENSP00000371743; ENSG00000205944. ENST00000382433; ENSP00000371870; ENSG00000205944. ENST00000382449; ENSP00000371887; ENSG00000205944.
GeneID	57055.
KEGG	hsa:57055.
UCSC	uc004fvq.3. human. uc022col.1. human.
Organism-specific databases
CTD	57055.
GeneCards	GC0YP025365.
H-InvDB	HIX0056667.
HGNC	HGNC:15964. DAZ2.
HPA	HPA047113.
MIM	400026. gene. 415000. phenotype.
neXtProt	NX_Q13117.
Orphanet	1646. Partial chromosome Y deletion.
PharmGKB	PA27150.
GenAtlas	Search...
Phylogenomic databases
eggNOG	KOG0118.
HOGENOM	HOG000112149.
HOVERGEN	HBG048860.
OrthoDB	EOG43N7FJ.
Gene expression databases
ArrayExpress	Q13117.
Bgee	Q13117.
CleanEx	HS_DAZ2.
Genevestigator	Q13117.
GermOnline	ENSG00000205944. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 1 hit.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Pfam	PF00076. RRM_1. 1 hit. [Graphical view]
SMART	SM00360. RRM. 1 hit. [Graphical view]
PROSITE	PS50102. RRM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57055.
NextBio	62832.
SOURCE	Search...

Entry information

Entry name

DAZ2_HUMAN

Accession

Primary (citable) accession number: Q13117
Secondary accession number(s): Q2KHN6, Q96P41, Q9NR91

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	December 16, 2008
Last modified:	May 1, 2013
This is version 110 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.