Gene id |
151903 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
CCDC12 Gene UCSC Ensembl |
Gene name |
coiled-coil domain containing 12 |
Alternate names |
coiled-coil domain-containing protein 12, |
Gene location |
3p21.31 (46982082: 46916309) Exons: 10 NC_000003.12
|
OMIM |
0 |
Protein Summary
|
Protein general information
| Q8WUD4
Name: Coiled coil domain containing protein 12
Length: 166 Mass: 19181
|
Sequence |
MEATTAGVGRLEEEALRRKERLKALREKTGRKDKEDGEPKTKHLREEEEEGEKHRELRLRNYVPEDEDLKKRRVP QAKPVAVEEKVKEQLEAAKPEPVIEEVDLANLAPRKPDWDLKRDVAKKLEKLKKRTQRAIAELIRERLKGQEDSL ASAVDAATEQKTCDSD
|
Structural information |
|
Other Databases |
GeneCards: CCDC12  Malacards: CCDC12 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005684 |
U2-type spliceosomal comp lex
|
IBA |
cellular component |
GO:0071014 |
post-mRNA release spliceo somal complex
|
IBA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
|
|
Pathway id | Pathway name |
hsa03040 | Spliceosome | |
|
Associated diseases |
References |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 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 |
|