DAZ3 (deleted in azoospermia 3)

2014-11-01  

Identity

HGNC
DAZ3
LOCATION
Yq11.223
LOCUSID
57054
ALIAS
pDP1679

Other Information

Locus ID:

NCBI: 57054
MIM: 400027
HGNC: 15965
Ensembl: ENSG00000187191

Variants:

dbSNP: 57054
ClinVar: 57054
TCGA: ENSG00000187191
COSMIC: DAZ3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187191ENST00000315357E7ETR3
ENSG00000187191ENST00000382365Q9NR90
ENSG00000187191ENST00000446723E7ERQ6

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
146395272004A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.47
192232872009Polymorphic expression of DAZ proteins in the human testis.12
174163652007AZFc partial deletions in Chilean men with severe spermatogenic failure.9
262326072015Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.4
169634112006[Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].0

Citation

Dessen P

DAZ3 (deleted in azoospermia 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62296/daz3