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Aliases for DAZ4 Gene

Aliases for DAZ4 Gene

  • Deleted In Azoospermia 4 2 3 5
  • PDP1680 3
  • PDP1681 3

External Ids for DAZ4 Gene

Previous GeneCards Identifiers for DAZ4 Gene

  • GC0YU990030
  • GC0YM024120
  • GC0YM023614
  • GC0YP025389
  • GC0YP026979

Summaries for DAZ4 Gene

Entrez Gene Summary for DAZ4 Gene

  • 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]

GeneCards Summary for DAZ4 Gene

DAZ4 (Deleted In Azoospermia 4) is a Protein Coding gene. Diseases associated with DAZ4 include azoospermia and klinefelter's syndrome. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZL.

UniProtKB/Swiss-Prot for DAZ4 Gene

  • RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZ4 Gene

Genomics for DAZ4 Gene

Regulatory Elements for DAZ4 Gene


Genomic Location for DAZ4 Gene

Chromosome:
Y
Start:
24,833,800 bp from pter
End:
24,907,040 bp from pter
Size:
73,241 bases
Orientation:
Plus strand

Genomic View for DAZ4 Gene

Genes around DAZ4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAZ4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAZ4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ4 Gene

Proteins for DAZ4 Gene

  • Protein details for DAZ4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SG3-DAZ4_HUMAN
    Recommended name:
    Deleted in azoospermia protein 4
    Protein Accession:
    Q86SG3
    Secondary Accessions:
    • Q9NR88
    • Q9NR89

    Protein attributes for DAZ4 Gene

    Size:
    579 amino acids
    Molecular mass:
    64785 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    Miscellaneous:
    • DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure.
    • 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.

    Alternative splice isoforms for DAZ4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAZ4 Gene

Proteomics data for DAZ4 Gene at MOPED

Post-translational modifications for DAZ4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for DAZ4 Gene

Domains & Families for DAZ4 Gene

Gene Families for DAZ4 Gene

Protein Domains for DAZ4 Gene

Suggested Antigen Peptide Sequences for DAZ4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86SG3

UniProtKB/Swiss-Prot:

DAZ4_HUMAN :
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
Domain:
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Contains 9 DAZ-like domains.
  • Contains 2 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with DAZ4: view

Function for DAZ4 Gene

Molecular function for DAZ4 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for DAZ4 Gene

genes like me logo Genes that share phenotypes with DAZ4: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DAZ4 Gene

Localization for DAZ4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZ4 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAZ4 Gene COMPARTMENTS Subcellular localization image for DAZ4 gene
Compartment Confidence
nucleus 4

No data available for Gene Ontology (GO) - Cellular Components for DAZ4 Gene

Pathways & Interactions for DAZ4 Gene

SuperPathways for DAZ4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DAZ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DAZ4: view

No data available for Pathways by source and SIGNOR curated interactions for DAZ4 Gene

Drugs & Compounds for DAZ4 Gene

(1) Drugs for DAZ4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DAZ4: view

Transcripts for DAZ4 Gene

mRNA/cDNA for DAZ4 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for DAZ4 Gene

No ASD Table

Relevant External Links for DAZ4 Gene

GeneLoc Exon Structure for
DAZ4
ECgene alternative splicing isoforms for
DAZ4

Expression for DAZ4 Gene

mRNA expression in normal human tissues for DAZ4 Gene

mRNA differential expression in normal tissues according to GTEx for DAZ4 Gene

This gene is overexpressed in Testis (x25.6) and Stomach (x17.8).

mRNA Expression by UniProt/SwissProt for DAZ4 Gene

Q86SG3-DAZ4_HUMAN
Tissue specificity: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).
genes like me logo Genes that share expression patterns with DAZ4: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DAZ4 Gene

Orthologs for DAZ4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAZ1 35
  • 92.71 (n)
  • 85.53 (a)
DAZ 36
  • 69 (a)
ManyToMany
DAZ 36
  • 87 (a)
ManyToMany
DAZ 36
  • 90 (a)
ManyToMany
DAZ 36
  • 46 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 46 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DAZL 36
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves DAZL 36
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dazl 36
  • 36 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bol 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daz-1 36
  • 16 (a)
OneToMany
Species with no ortholog for DAZ4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DAZ4 Gene

ENSEMBL:
Gene Tree for DAZ4 (if available)
TreeFam:
Gene Tree for DAZ4 (if available)

Paralogs for DAZ4 Gene

Paralogs for DAZ4 Gene

(11) SIMAP similar genes for DAZ4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DAZ4: view

Variants for DAZ4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ4 Gene

Q86SG3-DAZ4_HUMAN
The number as well as the precise structure of the DAZ proteins probably differs within the population.

Sequence variations from dbSNP and Humsavar for DAZ4 Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type
rs158237 -- 24,892,786(-) TCAAT(A/G)AATTC intron-variant
rs605453 -- 24,895,029(+) CATGT(A/G)TGGTA intron-variant
rs661688 -- 24,865,364(-) AACAG(A/G)AAATC intron-variant
rs698122 -- 24,856,197(-) ATGAG(A/G)AGAAC intron-variant
rs4098929 -- 24,882,961(-) TAAAC(A/G)TCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DAZ4 Gene

Variant ID Type Subtype PubMed ID
dgv2504e1 CNV Complex 17122850
dgv2505e1 CNV Complex 17122850
dgv2506e1 CNV Complex 17122850
nsv10034 CNV Loss 18304495
essv10843 CNV CNV 17122850
dgv2507e1 CNV Complex 17122850
nsv442825 CNV CNV 18776908
dgv2509e1 CNV Complex 17122850
dgv2510e1 CNV Complex 17122850
nsv515230 CNV Complex 21397061
dgv2511e1 CNV Complex 17122850
dgv2512e1 CNV Complex 17122850
nsv469766 CNV Loss 16826518
nsv471613 CNV Gain+Loss 15918152
nsv442826 CNV CNV 18776908

Relevant External Links for DAZ4 Gene

HapMap Linkage Disequilibrium report
DAZ4
Human Gene Mutation Database (HGMD)
DAZ4

No data available for Variation tolerance for DAZ4 Gene

Disorders for DAZ4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DAZ4 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
klinefelter's syndrome
  • hypogonadotropic hypogonadism
male infertility
  • infertility male
oligospermia
infertility
- elite association - COSMIC cancer census association via MalaCards
Search DAZ4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DAZ4_HUMAN
  • 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. {ECO:0000269 PubMed:11095434, ECO:0000269 PubMed:12801575}. 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.

Relevant External Links for DAZ4

Genetic Association Database (GAD)
DAZ4
Human Genome Epidemiology (HuGE) Navigator
DAZ4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DAZ4
genes like me logo Genes that share disorders with DAZ4: view

No data available for Genatlas for DAZ4 Gene

Publications for DAZ4 Gene

  1. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PMID: 10936047) Saxena R. … Page D.C. (Genomics 2000) 2 3 4 67
  2. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. (PMID: 14639527) Fernandes S. … Vogt P.H. (Am. J. Hum. Genet. 2004) 2 3
  3. Partial DAZ deletions in a family with five infertile brothers. (PMID: 12801575) Gianotten J. … van der Veen F. (Fertil. Steril. 2003) 3 23
  4. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. (PMID: 8896558) Saxena R. … Page D.C. (Nat. Genet. 1996) 3 23
  5. Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility. (PMID: 26232607) Zhang Y. … Yang X. (Gene 2015) 3

Products for DAZ4 Gene

Sources for DAZ4 Gene

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