CDC26

cell division cycle 26, the group of Anaphase promoting complex

Basic information

Region (hg38): 9:113255835-113275572

Previous symbols: [ "C9orf17" ]

Links

ENSG00000176386

∙ NCBI:246184 ∙ OMIM:614533 ∙ HGNC:17839 ∙ Uniprot:Q8NHZ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC26 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			5 clinvar			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in CDC26

This is a list of pathogenic ClinVar variants found in the CDC26 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
9-113256173-A-G	not specified	Uncertain significance (Mar 29, 2022)	2280548
9-113256204-A-C	not specified	Likely benign (Apr 19, 2024)	3319531
9-113256221-C-G		Benign (Dec 31, 2019)	713723
9-113256224-A-G	not specified	Likely benign (Feb 02, 2024)	3164275
9-113256254-G-A	not specified	Uncertain significance (Dec 20, 2023)	3164273
9-113257116-A-G	not specified	Uncertain significance (Aug 10, 2021)	2392944
9-113257149-C-A	not specified	Uncertain significance (Feb 14, 2023)	2472006
9-113257174-A-G	not specified	Uncertain significance (May 25, 2022)	2290759
9-113258727-T-C	Neurodegeneration and seizures due to copper transport defect	Likely pathogenic (Nov 09, 2022)	1722767
9-113258766-G-T	not specified	Uncertain significance (Oct 26, 2022)	2320235
9-113258775-G-A	Neurodegeneration and seizures due to copper transport defect	Pathogenic (Mar 30, 2023)	2446405
9-113258799-A-G	not specified	Uncertain significance (Jan 10, 2022)	2359716
9-113258856-C-G	not specified	Uncertain significance (Sep 23, 2023)	3164274
9-113260405-G-A	not specified	Uncertain significance (Feb 07, 2023)	2466853
9-113260425-C-T		Benign (Dec 31, 2019)	716923
9-113267366-C-T	not specified	Uncertain significance (Sep 16, 2021)	2250914
9-113267373-G-A	not specified	Uncertain significance (Jun 05, 2023)	2511604
9-113267435-C-T	not specified	Uncertain significance (Jan 22, 2024)	3140824
9-113267439-T-C	not specified	Uncertain significance (Apr 19, 2023)	2538799
9-113272428-T-C	not specified	Uncertain significance (Dec 13, 2022)	2370830

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC26	protein_coding	protein_coding	ENST00000374206	2	19755

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.660	0.318	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.732	36	50.7	0.710	0.00000317	557
Missense in Polyphen		8	14.456	0.55338		173
Synonymous	1.89	6	15.4	0.389	6.65e-7	161
Loss of Function	1.73	0	3.50	0.00	2.14e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex. {ECO:0000269|PubMed:18485873}.;
Pathway: Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;Inactivation of APC/C via direct inhibition of the APC/C complex;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;DNA Replication;Switching of origins to a post-replicative state;Class I MHC mediated antigen processing & presentation;Synthesis of DNA;S Phase;Cellular responses to external stimuli;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;CDK-mediated phosphorylation and removal of Cdc6;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;APC-Cdc20 mediated degradation of Nek2A;APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint;APC/C:Cdc20 mediated degradation of Cyclin B;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdc20 mediated degradation of mitotic proteins;Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Autodegradation of Cdh1 by Cdh1:APC/C;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

pRec: 0.100

Intolerance Scores

loftool
rvis_EVS: 0.3
rvis_percentile_EVS: 71.81

Haploinsufficiency Scores

pHI: 0.437
hipred: Y
hipred_score: 0.635
ghis: 0.452

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.731

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Cdc26
Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; skeleton 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);

Zebrafish Information Network

Gene name: cdc26
Affected structure: ciliary marginal zone
Phenotype tag: abnormal
Phenotype quality: decreased size

Gene ontology

Biological process: cell cycle;regulation of mitotic metaphase/anaphase transition;anaphase-promoting complex-dependent catabolic process;cell division;protein K11-linked ubiquitination;regulation of mitotic cell cycle phase transition
Cellular component: nucleoplasm;anaphase-promoting complex;cytosol
Molecular function: protein binding