IZUMO3 (IZUMO family member 3)

2014-11-01  

Identity

HGNC
IZUMO3
LOCATION
9p21.3
LOCUSID
100129669
ALIAS
C9orf134,bA20A20.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 100129669
MIM: 618896
HGNC: 31421
Ensembl: ENSG00000205442

Variants:

dbSNP: 100129669
ClinVar: 100129669
TCGA: ENSG00000205442
COSMIC: IZUMO3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205442ENST00000418122H7BZS5
ENSG00000205442ENST00000543880Q5VZ72
ENSG00000205442ENST00000604921S4R3E6

Expression (GTEx)

0
5
10
15
20
25
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

References

Pubmed IDYearTitleCitations
281816942017A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.11

Citation

Dessen P

IZUMO3 (IZUMO family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64707/izumo3