DAZ2 - deleted in azoospermia 2 Gene

Also Known as pDP1678

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57055

About DAZ2

Cytogenetic location: Yq11.223 Genomic coordinates (GRCh38): Y:23,219,457-23,291,356 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 2 phenotypes.

Summary

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 for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DAZ2 Products (7)

mRNA	Protein	Name
NM_001005785.2	NP_001005785.1	deleted in azoospermia protein 2 isoform 2
NM_001005786.2	NP_001005786.2	deleted in azoospermia protein 2 isoform 3
NM_001388493.1	NP_001375422.1	deleted in azoospermia protein 2 isoform 4
NM_001388494.1	NP_001375423.1	deleted in azoospermia protein 2 isoform 5
NM_001388495.1	NP_001375424.1	deleted in azoospermia protein 2 isoform 6
NM_001389303.1	NP_001376232.1	deleted in azoospermia protein 2 isoform 7
NM_020363.3	NP_065096.2	deleted in azoospermia protein 2 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10857750	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	10857750	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DAZ2 Protein Structure

RRM_1

0
100
200
300
400
500
558 a.a.

Protein Preferred Names	Protein Names
deleted in azoospermia protein 2

Related Diseases

Diseases	Alias
Spermatogenic Failure, Y-Linked, 2	SPGFY2 Spermatogenic Failure, Nonobstructive, Y-Linked Y-Linked Spermatogenic Failure 2 Azoospermia, Nonobstructive, Y-Linked Oligozoospermia, Nonobstructive, Y-Linked Oligospermia, Nonobstructive, Y-Linked Spermatogenic Arrest, Y-Linked Nonobstructive Y-Linked Spermatogenic Failure Spermatogenic Failure Y-Linked 2 Azoospermia Non-Obstructive Y-Linked Non-Obstructive Azoospermia And Infertility Oligospermia Non-Obstructive Y-Linked Oligozoospermia Non-Obstructive Y-Linked Spermatogenic Arrest Y-Linked Spermatogenic Failure Nonobstructive Y-Linked
Partial Deletion Of Y	Partial Chromosome Y Deletion Partial Deletion Of Y Chromosome Short Arm Partial Deletion Of Chromosome Y Partial Deletion Of The Long Arm Of The Y Chromosome Y-Chromosome Microdeletions Male Sterility Due To Chromosome Y Deletion Y Chromosome Deletions
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Infertility
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03537	DAZ2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DAZ2	MGD	MGI:1342328