|
Gene id |
4115 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
MAGEB4 Gene UCSC Ensembl |
|
Aliases |
CT3.6 |
|
Gene name |
MAGE family member B4 |
|
Alternate names |
melanoma-associated antigen B4, MAGE-B4 antigen, cancer/testis antigen family 3, member 6, melanoma antigen family B, 4, melanoma antigen family B4, |
|
Gene location |
Xp21.2 (30241999: 30244186) Exons: 1 NC_000020.11
|
|
Gene summary(Entrez) |
This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB gen
|
|
OMIM |
300153 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| X-linked azoospermia | MIK: 28401488 |
| Oligozoospermia | MIK: 28401488 |
| Spermatogenic defects | MIK: 29713536 |
| X-linked azoospermia | MIK: 28401488 |
| Oligozoospermia | MIK: 28401488 |
| Male infertility | MIK: 28401488 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28401488 |
X-linked a
zoospermia
, oligozoo
spermia, m
ale infert
ility
|
c.1041A>T |
Turkish
|
3 azoospermia
|
Male infertility |
|
Show abstract |
| 29713536 |
Sperm numb
er defects
|
c.1041A?>?T (p.*347Cys-ext*24) |
|
|
Male infertility |
NGS
|
Show abstract |
|