Identity
HGNC
LOCATION
9p21.3
LOCUSID
ALIAS
C9orf134,bA20A20.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 100129669
MIM: 618896
HGNC: 31421
Ensembl: ENSG00000205442
Variants:
dbSNP: 100129669
ClinVar: 100129669
TCGA: ENSG00000205442
COSMIC: IZUMO3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000205442 | ENST00000418122 | H7BZS5 |
| ENSG00000205442 | ENST00000543880 | Q5VZ72 |
| ENSG00000205442 | ENST00000604921 | S4R3E6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Reproduction | REACTOME | R-HSA-1474165 |
| Fertilization | REACTOME | R-HSA-1187000 |
| Sperm:Oocyte Membrane Binding | REACTOME | R-HSA-1300652 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28181694 | 2017 | A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. | 20 |
| 28181694 | 2017 | A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites. | 20 |
Citation
Dessen P
IZUMO3 (IZUMO family member 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64707/meetings/submit-meetings/
