DAZ4 deleted in azoospermia 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAZ4provided by HGNC
Official Full Name: deleted in azoospermia 4provided by HGNC
Primary source: HGNC:HGNC:15966
See related: Ensembl:ENSG00000205916 MIM:400048; AllianceGenome:HGNC:15966
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: pDP1680; pDP1681
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]
Expression: Biased expression in stomach (RPKM 48.9) and testis (RPKM 10.4) See more
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Genomic context

Location:: Yq11.23

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (24833820..24907040)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (25571713..25641471, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (26979967..27053187)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reported a new type of AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the result of 2 successive events favored by the unstable structure of AZFc region; also demonstrated that this deletion constitutes a relative high-risk factor for male infertility in Tunisian population
Title: gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.
Studies indicate that partial RNA-binding proteins DAZ1/2 deletion was associated wih male infertility, but partial RNA-binding proteins DAZ3/4 deletion was not associated with male infertility.
Title: Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
Oligospermia seems to be promoted by removing DAZ4 copy. Deletion of DAZ2 and DAZ4 gene copies is associated with male infertility.
Title: Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.
All four DAZ genes are expressed in the human testis, and their products are highly polymorphic among men
Title: Polymorphic expression of DAZ proteins in the human testis.
AZFc subdeletions do not seem to cause severe impairment of spermatogenesis in Chilean men.
Title: AZFc partial deletions in Chilean men with severe spermatogenic failure.
Observational study of gene-disease association. (HuGE Navigator)
Title: [Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].
a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus these genes cannot be required for male fertility
Title: A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65618 (e-PCR)
- UniSTS:88622

DAZ2_3058 (e-PCR)
- UniSTS:462151

G38350 (e-PCR)
- UniSTS:80968

G65827 (e-PCR)
- UniSTS:166986

NoName (e-PCR)
- UniSTS:482123

G65834 (e-PCR)
- UniSTS:230500

RH38677 (e-PCR)
- UniSTS:88682

DAZ-SNV_II (e-PCR)
- UniSTS:241026

SHGC-35663 (e-PCR)
- UniSTS:60325

G38349 (e-PCR)
- UniSTS:54754

RH47942 (e-PCR)
- UniSTS:92394

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA stabilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: deleted in azoospermia protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001005375.3 → NP_001005375.1 deleted in azoospermia protein 4 isoform 1

See identical proteins and their annotated locations for NP_001005375.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), which includes two RRM domains and nine DAZ repeats.

Source sequence(s)

AA608617, AC010089, AF248482, AF248483, AL833003

UniProtKB/Swiss-Prot

Q86SG3, Q9NR88, Q9NR89

Related

ENSP00000371751.3, ENST00000382314.6

Conserved Domains (2) summary

TIGR01628
Location:42 → 438

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

cd12672
Location:200 → 281

RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
NM_001388484.1 → NP_001375413.1 deleted in azoospermia protein 4 isoform 3

Status: REVIEWED

Source sequence(s)

AC006338, AC006982, AC010089

Consensus CDS

CCDS94720.1

UniProtKB/TrEMBL

A0A804HKV4

Related

ENSP00000508087.1, ENST00000682740.1

Conserved Domains (3) summary

TIGR01628
Location:42 → 412

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

pfam18872
Location:479 → 499

Daz; Daz repeat

cd12672
Location:200 → 281

RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins
NM_020420.4 → NP_065153.1 deleted in azoospermia protein 4 isoform 2

See identical proteins and their annotated locations for NP_065153.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks one RRM domain and one DAZ repeat compared to isoform 1.

Source sequence(s)

AA608617, AC010089, AL833003, BC047480

Consensus CDS

CCDS55557.1

UniProtKB/TrEMBL

E7ERQ6

Related

ENSP00000389300.2, ENST00000449750.7

Conserved Domains (3) summary

TIGR01628
Location:40 → 273

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

pfam18872
Location:314 → 334

Daz; Daz repeat

cd12672
Location:35 → 116

RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins