Recombinant Human CAP-Gly domain-containing linker protein 2 (CLIP2), Truncated

Uniprot Id

Q9UDT6

Target Species

Human

Target Name

CLIP2

Target Full Name

CAP-Gly domain-containing linker protein 2

Target 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.

Target Involvement

CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:9799601). 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. However, it has been demonstrated that haploinsufficiency of this gene alone is not sufficient to cause any of the cognitive or facial features of WBS (PubMed:22608712).

Target Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton.

Target Synonyms

CAP GLY domain containing linker protein 2; CAP-Gly domain-containing linker protein 2; CLIP 115; CLIP; CLIP-115; Clip2; CLIP2_HUMAN; cytoplasmic linker 2; Cytoplasmic linker protein 115; Cytoplasmic linker protein 2; KIAA0291; MGC11333; restin; Similar to RESTIN (CYTOPLASMIC LINKER PROTEIN 170 ALPHA 2); WBSCR3; WBSCR4; Williams Beuren syndrome chromosome region 3; Williams Beuren syndrome chromosome region 4; Williams-Beuren syndrome chromosomal region 3 protein; Williams-Beuren syndrome chromosomal region 4 protein; WSCR3; WSCR4