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CDC14A |
Gene Facts External Data Attribution
- HGNC Symbol
- CDC14A (HGNC:1718) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cell division cycle 14A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB32
- Alias symbols
- Cdc14A1, Cdc14A2, cdc14, DFNB105
- %HI
- 12.3(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.14(Read more about gnomAD LOEUF score)
- Cytoband
- 1p21.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:100810557-100985833 NCBI Ensembl UCSC GRCh38/hg38: chr1:100345001-100520277 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003672.4 ENST00000336454.5 (Read more about MANE Select)
- Function
- Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing (PubMed:29293958). {ECO:0000269|PubMed:11901424, ECO:0000269|PubMed:12134069, ECO:0000269|PubMed:17488717, ECO:0000269|PubMed:29293958, ECO:0000269|PubMed:9367992}... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36166
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
