Gene id |
113246 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
C12orf57 Gene UCSC Ensembl |
Aliases |
C10, GRCC10 |
Gene name |
chromosome 12 open reading frame 57 |
Alternate names |
protein C10, gene rich cluster C10, likely ortholog of mouse gene rich cluster, C10, |
Gene location |
12p13.31 (18859659: 18839598) Exons: 6 NC_000001.11
|
Gene summary(Entrez) |
This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for
|
OMIM |
615140 |
Protein Summary
|
Protein general information
| Q99622
Name: Protein C10
Length: 126 Mass: 13178
Tissue specificity: Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO
|
Sequence |
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDG EGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS
|
Structural information |
|
Other Databases |
GeneCards: C12orf57 Malacards: C12orf57 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0016607 |
nuclear speck
|
IDA |
cellular component |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0021678 |
third ventricle developme nt
|
IMP |
biological process |
GO:0048593 |
camera-type eye morphogen esis
|
IMP |
biological process |
GO:0050890 |
cognition
|
IMP |
biological process |
GO:0048593 |
camera-type eye morphogen esis
|
IMP |
biological process |
GO:0021540 |
corpus callosum morphogen esis
|
IMP |
biological process |
GO:0009791 |
post-embryonic developmen t
|
IMP |
biological process |
GO:0014819 |
regulation of skeletal mu scle contraction
|
IMP |
biological process |
GO:0036343 |
psychomotor behavior
|
IMP |
biological process |
GO:0009791 |
post-embryonic developmen t
|
IMP |
biological process |
GO:0014819 |
regulation of skeletal mu scle contraction
|
IMP |
biological process |
GO:0014819 |
regulation of skeletal mu scle contraction
|
IMP |
biological process |
GO:0009791 |
post-embryonic developmen t
|
IMP |
biological process |
GO:0009791 |
post-embryonic developmen t
|
IMP |
biological process |
GO:0003674 |
molecular_function
|
ND |
molecular function |
GO:0021540 |
corpus callosum morphogen esis
|
IMP |
biological process |
GO:0021540 |
corpus callosum morphogen esis
|
IMP |
biological process |
GO:0048593 |
camera-type eye morphogen esis
|
IMP |
biological process |
GO:0021540 |
corpus callosum morphogen esis
|
IMP |
biological process |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
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 |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|