InnateDB Protein
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IDBP-593749.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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C12orf57
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Protein Name
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chromosome 12 open reading frame 57
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000440602
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InnateDB Gene
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IDBG-15713 (C12orf57)
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Protein Structure
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Function |
In brain, may be required for corpus callusum development. {ECO:0000269PubMed:23453666}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:23453666}.
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Disease Associations |
Temtamy syndrome (TEMTYS) [MIM:218340]: A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. {ECO:0000269PubMed:23453665, ECO:0000269PubMed:23453666, ECO:0000269PubMed:23633300}. Note=The disease is caused by mutations affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.
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Tissue Specificity |
Ubiquitously expressed, with higher expression in lung and fetal brain. {ECO:0000269PubMed:23453666}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q99622
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PhosphoSite |
PhosphoSite-Q99622
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TrEMBL |
U3KQ85
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UniProt Splice Variant |
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Entrez Gene |
113246
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UniGene |
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RefSeq |
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HUGO |
HGNC:29521
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OMIM |
615140
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CCDS |
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HPRD |
13609
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IMGT |
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EMBL |
AK311912
BC009925
CH471116
U47924
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GenPept |
AAB51329
AAH09925
BAG34853
EAW88705
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