CLASP2
cytoplasmic linker associated protein 2, the group of TOG domain containing
Basic information
Region (hg38): 3:33496245-33718356
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (101 variants)
- CLASP2-related_disorder (18 variants)
- not_provided (9 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLASP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001365631.1. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | 14 | ||||
| missense | 99 | 103 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 99 | 12 | 6 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CLASP2 | protein_coding | protein_coding | ENST00000468888 | 39 | 222112 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 5.49e-7 | 124640 | 0 | 14 | 124654 | 0.0000562 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.87 | 466 | 768 | 0.607 | 0.0000397 | 9745 |
| Missense in Polyphen | 210 | 397.48 | 0.52833 | 5163 | ||
| Synonymous | 0.134 | 263 | 266 | 0.990 | 0.0000129 | 2948 |
| Loss of Function | 7.49 | 10 | 84.2 | 0.119 | 0.00000507 | 1037 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000900 | 0.0000900 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000932 | 0.0000928 |
| European (Non-Finnish) | 0.0000751 | 0.0000708 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000384 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules (PubMed:26003921). Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2 (PubMed:16824950). This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle (PubMed:16866869, PubMed:16914514). Acts as a mediator of ERBB2- dependent stabilization of microtubules at the cell cortex. {ECO:0000269|PubMed:11290329, ECO:0000269|PubMed:15631994, ECO:0000269|PubMed:16824950, ECO:0000269|PubMed:16866869, ECO:0000269|PubMed:16914514, ECO:0000269|PubMed:17543864, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:26003921}.;
- Pathway
- Developmental Biology;Signal Transduction;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Signaling by ROBO receptors;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;Axon guidance;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Role of ABL in ROBO-SLIT signaling;Cell Cycle, Mitotic
(Consensus)
Recessive Scores
- pRec
- 0.146
Haploinsufficiency Scores
- pHI
- 0.484
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.634
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.606
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Clasp2
- Phenotype
- cellular phenotype;
Gene ontology
- Biological process
- microtubule cytoskeleton organization;vesicle targeting;microtubule nucleation;negative regulation of microtubule depolymerization;Golgi organization;mitotic spindle organization;establishment or maintenance of cell polarity;exit from mitosis;regulation of gastrulation;positive regulation of epithelial cell migration;regulation of epithelial to mesenchymal transition;microtubule organizing center organization;regulation of microtubule polymerization or depolymerization;regulation of microtubule-based process;microtubule anchoring;positive regulation of exocytosis;cell division;negative regulation of stress fiber assembly;negative regulation of focal adhesion assembly;protein localization to plasma membrane;positive regulation of extracellular matrix disassembly;negative regulation of wound healing, spreading of epidermal cells;positive regulation of basement membrane assembly involved in embryonic body morphogenesis
- Cellular component
- kinetochore;condensed chromosome kinetochore;cytoplasm;Golgi apparatus;trans-Golgi network;microtubule organizing center;kinetochore microtubule;cytosol;microtubule;cytoplasmic microtubule;plasma membrane;focal adhesion;cell cortex;membrane;cell leading edge;ruffle membrane;basal cortex;mitotic spindle
- Molecular function
- dystroglycan binding;protein binding;microtubule binding;microtubule plus-end binding