Primary Information |
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| BoMiProt ID | Bomi5940 |
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| Protein Name | Gap junction gamma-2 protein/Gap junction alpha-12 protein |
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| Organism | Bos taurus |
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| Uniprot ID | Q29RK8 |
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| Milk Fraction | Whey |
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| Ref Sequence ID | NP_001039905.1 |
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| Aminoacid Length | 429 |
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| Molecular Weight | 46067 |
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| FASTA Sequence |
Download |
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| Gene Name | GJC2/GJA12 |
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| Gene ID | 538745 |
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| Protein Existence Status | reviewed |
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Secondary Information |
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| Protein Function | cell to cell diffusion of ions and molecules through this channel.Cx47 (Gja12) is expressed specifically in oligodendrocytes and that its expression is regulated in parallel with other myelin genes. |
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| Biochemical Properties | A connexon is composed of a hexamer of connexins. |
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| PTMs | Phosphorylation |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| >sp|Q29RK8|CXG2_BOVIN Gap junction gamma-2 protein OS=Bos taurus OX=9913 GN=GJC2 PE=2 SV=1
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGESIYSDEQTKFTCNTRQ
PGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASQDERRRASRRRPSR
RAPRPPLPLPPPPHPGWPEPADLGEEEPMLGLGEEDEDPGVAEGLGEDEEAEDTGAAKGA
GGDTKVAGVPGPAGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVRPF
FACSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGNAQDAVRGRR
PLPASPGPMPRPPPCALPAAPSGLACPPDYSLVVRTAEHARAQDQELASLALQALQDRRA
LGDLDS*366PPGPGLPANARGPPKPGAPASGSGSATSGGTVGGQGRQGIKPRMGSEKGSGSSS
REGKTTVWI |
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| Predicted Disorder Regions | 5 disordered segments; (110-173), (297-328), (353-370), (388-395), (406-428) |
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| DisProt Annotation | |
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| TM Helix Prediction | 4TMHs; (21-43),(79-97),(210-232),(263-281) |
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| Additional Comments | Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) due to mutation of this gene |
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| Bibliography | Boespflug-Tanguy O. Inborn errors of brain myelin formation. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. PMID: 23622380. |
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