|
Gene id |
9445 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
ITM2B Gene UCSC Ensembl |
|
Aliases |
ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2 |
|
Gene name |
integral membrane protein 2B |
|
Alternate names |
integral membrane protein 2B, ABri/ADan amyloid peptide, BRICHOS domain containing 2B, epididymis secretory sperm binding protein, immature BRI2, transmembrane protein BRI, |
|
Gene location |
13q14.2 (48233205: 48270356) Exons: 6 NC_000013.11
|
|
Gene summary(Entrez) |
Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by f
|
|
OMIM |
603904 |
Protein Summary
|
|
| Associated diseases |
References |
| Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | KEGG: H02288 |
| Familial dementia | KEGG: H01184 |
| Associated with sperm capacitation | MIK: 20945367 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 20945367 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 20945367 |
Assocaited
with sper
m capacita
tion
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|