IZUMO1 (izumo sperm-egg fusion 1)

2016-10-01  

Identity

HGNC
IZUMO1
LOCATION
19q13.33
LOCUSID
284359
ALIAS
IZUMO,OBF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 284359
MIM: 609278
HGNC: 28539
Ensembl: ENSG00000182264

Variants:

dbSNP: 284359
ClinVar: 284359
TCGA: ENSG00000182264
COSMIC: IZUMO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182264ENST00000332955Q8IYV9
ENSG00000182264ENST00000595517Q8IYV9
ENSG00000182264ENST00000595937Q8IYV9
ENSG00000182264ENST00000602105M0R0B8

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

Pathways

PathwaySourceExternal ID
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Sperm:Oocyte Membrane BindingREACTOMER-HSA-1300652

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
157590052005The immunoglobulin superfamily protein Izumo is required for sperm to fuse with eggs.0
180827332008Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.0
180827332008Preliminary study on the role of the human IZUMO gene in oocyte-spermatozoa fusion failure.0
232790052013Presence and incidence of izumo antibodies in sera of immunoinfertile women and men.0
273098082016Structure of IZUMO1-JUNO reveals sperm-oocyte recognition during mammalian fertilization.0
273098182016Molecular architecture of the human sperm IZUMO1 and egg JUNO fertilization complex.0

Citation

Dessen P

IZUMO1 (izumo sperm-egg fusion 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56314/izumo1