DPY19L2 (dpy-19 like 2)

2014-08-01  

Identity

HGNC
DPY19L2
LOCATION
12q14.2
LOCUSID
283417
ALIAS
SPATA34,SPGF9
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 283417
MIM: 613893
HGNC: 19414
Ensembl: ENSG00000177990

Variants:

dbSNP: 283417
ClinVar: 283417
TCGA: ENSG00000177990
COSMIC: DPY19L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177990ENST00000306389F5H0W1
ENSG00000177990ENST00000324472Q6NUT2
ENSG00000177990ENST00000439061H0YF77
ENSG00000177990ENST00000538147F5H1L7
ENSG00000177990ENST00000541083F5H5T7
ENSG00000177990ENST00000542209F5H4G6

Expression (GTEx)

0
10
20
30
40
50
60
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
277797482017Genetic abnormalities leading to qualitative defects of sperm morphology or function.21
293390162018Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion.2
165269572006Duplication and relocation of the functional DPY19L2 gene within low copy repeats.0
213970642011A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.0
226276592012MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.0
226537512012Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.0
235129942013DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.0
235552822013Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.0
265161682016Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.0
288824312017Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.0

Citation

Dessen P

DPY19L2 (dpy-19 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54265/dpy19l2-(dpy-19-like-2)