CTTN
cortactin
Basic information
Region (hg38): 11:70398404-70436584
Previous symbols: [ "EMS1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (59 variants)
- not_provided (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTTN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005231.4. 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 | 4 | |||||
| missense | 57 | 60 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 57 | 5 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CTTN | protein_coding | protein_coding | ENST00000376561 | 17 | 38181 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0892 | 0.911 | 125728 | 0 | 20 | 125748 | 0.0000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.868 | 352 | 401 | 0.878 | 0.0000256 | 4147 |
| Missense in Polyphen | 143 | 200.61 | 0.71281 | 2070 | ||
| Synonymous | -0.479 | 182 | 174 | 1.05 | 0.0000134 | 1168 |
| Loss of Function | 4.34 | 10 | 39.4 | 0.254 | 0.00000203 | 435 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000292 | 0.0000292 |
| Ashkenazi Jewish | 0.000794 | 0.000794 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000441 | 0.0000439 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454). {ECO:0000250|UniProtKB:Q60598, ECO:0000250|UniProtKB:Q66HL2, ECO:0000269|PubMed:16636290, ECO:0000269|PubMed:17959782, ECO:0000269|PubMed:21296879, ECO:0000269|PubMed:23144454}.;
- Pathway
- Tight junction - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Shigellosis - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathogenic Escherichia coli infection;Hepatitis C and Hepatocellular Carcinoma;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Fibroblast growth factor-1;RHO GTPases activate PAKs;RHO GTPase Effectors;Signaling by Rho GTPases;Clathrin-mediated endocytosis;EGFR1;agrin in postsynaptic differentiation;N-cadherin signaling events;PDGFR-beta signaling pathway;FGF signaling pathway;E-cadherin signaling in the nascent adherens junction;Syndecan-3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.586
Intolerance Scores
- loftool
- 0.542
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.73
Haploinsufficiency Scores
- pHI
- 0.251
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.618
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.798
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cttn
- Phenotype
- embryo phenotype; respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype; growth/size/body region phenotype; cellular phenotype;
Gene ontology
- Biological process
- intracellular protein transport;receptor-mediated endocytosis;substrate-dependent cell migration, cell extension;actin filament polymerization;regulation of axon extension;positive regulation of actin filament polymerization;actin cytoskeleton reorganization;positive regulation of smooth muscle contraction;focal adhesion assembly;neuron projection morphogenesis;cell motility;membrane organization;dendritic spine maintenance;lamellipodium organization;regulation of autophagy of mitochondrion;negative regulation of extrinsic apoptotic signaling pathway
- Cellular component
- ruffle;podosome;cytoplasm;Golgi apparatus;cytosol;cytoskeleton;actin filament;plasma membrane;clathrin-coated pit;focal adhesion;cell cortex;voltage-gated potassium channel complex;lamellipodium;growth cone;cortical cytoskeleton;dendritic spine;intracellular membrane-bounded organelle;mitotic spindle midzone
- Molecular function
- protein binding;profilin binding;cadherin binding