Basic information
Entrez ID Official symbol Synonyms Description Location Type of protein External annotation
8555 CDC14B CDC14B3, Cdc14B1, Cdc14B2, hCDC14B cell division cycle 14B 9q22.32-q22.33 protein-coding Genecard
Summary
uniprot_summary refseq_summary
Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases. The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms.
Assessment table
Flase
Caregory Description Value Value range ( Low - High ) Comment
PLI The probability of being loss-of-function (LoF) intolerant 0.576 [0, ..., 1] Genes with high pLI scores (pLI ≥ 0.9) are extremely LoF intolerant, whereby genes with low pLI scores (pLI ≤ 0.1) are LoF tolerant. The score is calculated based on high-quality exome sequence data (ExAC) for 60,706 individuals of diverse ethnicities.
Haploinsufficiency (HI) score rank Predicted probability of exhibiting haploinsufficiency [100, ..., 1] High ranks (e.g. 0-10%) indicate a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90-100%) indicate a gene is more likely to NOT exhibit haploinsufficiency (DECIPHER, PMID: 20976243). haploinsufficiency means a single functional copy of a gene is insufficient to maintain its normal function and is extremely intolerant of LoF variation.
Gene brain expressed Queried gene is expressed in brain tissues True [False, True] The gene expression data are extracted from GTEx v7 and BrainSpan. A gene with the expression value of (log 2 based (TPM+1)) at least 1 TPM/RPKM/FPKM in one or more tissues related to the brain is considered brain-expressed.
Protein brain expressed Queried protein is expressed in brain tissues[False, True] The protein expression data are extracted from ProteomicsDB (v2018.09). A protein with the expression value of (log based 10 (iBAQ intensity)) at least 0.5 in one or more tissues related to the brain is considered brain-expressed protein.
Carrying LoF DNMs Number of loss-of-function DNMs hit the queried gene 0
(Case)
[0, ..., 67] with average of 0.160 Loss of function (LoF) mutations include frameshift indels, nonsense (stop-gained) and splice-site mutations, which can result in the gene product having less or no function and can have deleterious consequences.
0
(Control)
[0, ..., 6] with average of 0.044
Carrying missense DNMs Number of missense DNMs hit the queried gene 1
(Case)
[0, ..., 55] with average of 0.846 Missense mutations can result in changes in protein sequences, but are commonly considered to have less deleterious impacts than LoF mutations.
0
(Control)
[0, ..., 21] with average of 0.300
FMRP binding targets FMRP inteacting parters False [False, True] FMRP loss of function causes Fragile X syndrome (FXS). The binding targets identified crosslinking immunoprecipitation (HITS-CLIP) in mouse brains (PMID:21784246). Many FMRP targets are among genes implicated in different neuropsychiatric diseases, such as autism, schizophrenia.
Postsynaptic density (PSD) Protein associates with postsynaptic membranes of excitatory synapses False [False, True] Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders.
Human essential genes - False [False, True] Genes are thought to be critical for human survival.