|
Gene id |
284422 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SMIM24 Gene UCSC Ensembl |
|
Aliases |
C19orf77, HSPC323, MARDI |
|
Gene name |
small integral membrane protein 24 |
|
Alternate names |
small integral membrane protein 24, MAP17-related dimer, transmembrane protein C19orf77, transmembrane protein HSPC323, |
|
Gene location |
19p13.3 (31489949: 31434647) Exons: 22 NC_000022.11
|
Protein Summary
|
| Protein general information
| O75264
Name: Small integral membrane protein 24
Length: 130 Mass: 14964
|
| Sequence |
METLGALLVLEFLLLSPVEAQQATEHRLKPWLVGLAAVVGFLFIVYLVLLANRLWCSKARAEDEEETTFRMESNL YQDQSEDKREKKEAKEKEEKRKKEKKTAKEGESNLGLDLEEKEPGDHERAKSTVM
|
| Structural information |
|
| Other Databases |
GeneCards: SMIM24  Malacards: SMIM24 |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0008150 |
biological_process
|
ND |
biological process |
GO:0003674 |
molecular_function
|
ND |
molecular function |
|
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|