DAZ2 (deleted in azoospermia 2)

2014-11-01  

Identity

HGNC
DAZ2
LOCATION
Yq11.223
LOCUSID
57055
ALIAS
pDP1678

Other Information

Locus ID:

NCBI: 57055
MIM: 400026
HGNC: 15964
Ensembl: ENSG00000205944

Variants:

dbSNP: 57055
ClinVar: 57055
TCGA: ENSG00000205944
COSMIC: DAZ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205944ENST00000382294E7EU39
ENSG00000205944ENST00000382306Q13117
ENSG00000205944ENST00000382424Q13117
ENSG00000205944ENST00000382431I3L0B6
ENSG00000205944ENST00000382433Q13117
ENSG00000205944ENST00000382440E9PBY2
ENSG00000205944ENST00000382449Q13117
ENSG00000205944ENST00000400493E7ENA6

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
166745532006A frequent partial AZFc deletion does not render an increased risk of spermatogenic impairment in East Asians.19
192232872009Polymorphic expression of DAZ proteins in the human testis.12
174163652007AZFc partial deletions in Chilean men with severe spermatogenic failure.9
164912692006DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men.8
262326072015Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.4
165804012006Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men.3
235122322013Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population.3
118838732002A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men.1
248783702014Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.1
274572842016gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.1

Citation

Dessen P

DAZ2 (deleted in azoospermia 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62295/daz2-(deleted-in-azoospermia-2)