DAZ4 - deleted in azoospermia 4 Gene

Homo sapiens

Also known as pDP1680; pDP1681

Gene ID: 57135 | Gene type: protein coding

About DAZ4

Cytogenetic location: Yq11.23 Genomic coordinates (GRCh38): Y:24,833,820-24,907,040 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 1 phenotype. Biased expression in stomach (RPKM 48.9) and testis (RPKM 10.4).

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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011]

DAZ4 Products(3)

mRNA	Protein	Name
NM_001005375.3	NP_001005375.1	deleted in azoospermia protein 4 isoform 1
NM_001388484.1	NP_001375413.1	deleted in azoospermia protein 4 isoform 3
NM_020420.4	NP_065153.1	deleted in azoospermia protein 4 isoform 2

Gene Ontology

Molecular Function
Cellular Component

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

Cellular Component GO Annotation	Evidence	Reference	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

DAZ4 Protein Structure

RRM_1

0
100
200
300
413 a.a.

Protein Preferred Names

Protein Names

deleted in azoospermia protein 4

Related Diseases

Diseases

Alias

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

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

Oligospermia

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03539	DAZ4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DAZ4	MGD	MGI:1342328

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