Human Gene CLIP2 (uc003uam.3) Description and Page Index
Description: Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. RefSeq Summary (NM_003388): The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:73,703,805-73,820,273 Size: 116,469 Total Exon Count: 17 Strand: + Coding Region Position: hg19 chr7:73,731,877-73,818,178 Size: 86,302 Coding Exon Count: 16
ID:CLIP2_HUMAN DESCRIPTION: RecName: Full=CAP-Gly domain-containing linker protein 2; AltName: Full=Cytoplasmic linker protein 115; Short=CLIP-115; AltName: Full=Cytoplasmic linker protein 2; AltName: Full=Williams-Beuren syndrome chromosomal region 3 protein; AltName: Full=Williams-Beuren syndrome chromosomal region 4 protein; 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). SUBUNIT: Interacts with CLASP1 and CLASP2. SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with the cytoskeleton (By similarity). DISEASE: 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. SIMILARITY: Contains 2 CAP-Gly domains. SEQUENCE CAUTION: Sequence=BAA22960.2; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CLIP2 CDC HuGE Published Literature: CLIP2 Positive Disease Associations: Leukocyte Count Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UDT6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.