InnateDB Protein
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IDBP-21165.6
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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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CLIP2
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Protein Name
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CAP-GLY domain containing linker protein 2
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Synonyms
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CLIP; CLIP-115; CYLN2; WBSCR3; WBSCR4; WSCR3; WSCR4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000223398
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InnateDB Gene
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IDBG-21163 (CLIP2)
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Protein Structure
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Function |
Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with the cytoskeleton. {ECO:0000250}.
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Disease Associations |
Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
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Tissue Specificity |
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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 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[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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Predicted by orthology |
Total |
2 [view]
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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 |
IPR000938
CAP Gly-rich domain
IPR010989
t-SNARE
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PFAM |
PF01302
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PRINTS |
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PIRSF |
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SMART |
SM01052
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UDT6
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PhosphoSite |
PhosphoSite-Q9UDT6
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TrEMBL |
Q7Z5B7
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UniProt Splice Variant |
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Entrez Gene |
7461
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UniGene |
Hs.647018
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RefSeq |
NP_003379
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HUGO |
HGNC:2586
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OMIM |
603432
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CCDS |
CCDS5569
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HPRD |
09140
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IMGT |
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EMBL |
AB006629
AC005015
AF041055
AF041056
AF041057
AF041058
AF041059
AY295764
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GenPept |
AAB96784
AAF03524
AAP91873
BAA22960
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