ANAPC15

protein-coding

anaphase promoting complex subunit 15, the group of Anaphase promoting complex

Gene summary

Involved in anaphase-promoting complex-dependent catabolic process; protein polyubiquitination; and regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C11orf51

MANE transcript

NM_014042.3

Inheritance

—

ClinVar variants

U:10B:2

Top phenotype

Autosomal recessive nonsyndromic hearing loss 63

gnomAD constraint

pLI —, LoF o/e 0.25

Max pathogenic AF

—

Genomic locus

chr11:72,106,378-72,112,780

External References & Databases

Ensembl (ENSG00000110200)

Transcript & Mutation Effects

hg38 • Region Span ~6.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANAPC15 variants in ClinVar

3 Conditions Cataloged

Autosomal recessive nonsyndromic hearing loss 63Total: 11

not specifiedTotal: 7

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014042.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			7 clinvar	1 clinvar		8
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	10	2	0	12

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 162 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014042.3	RefSeq	NP_054761.1	4	MANE Select
ENST00000227618.9	Ensembl	ENSP00000227618.4	4	MANE Select
NM_001278485.2	RefSeq	NP_001265414.1	4	Standard
NM_001278486.2	RefSeq	NP_001265415.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

cell cycle
anaphase-promoting complex-dependent catabolic process
cell division
regulation of mitotic cell cycle spindle assembly checkpoint
regulation of mitotic cell cycle phase transition

Cellular Component

nucleoplasm
anaphase-promoting complex
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000227618
Coding exons: 4
Length: 6403
Individuals with no LoFs: 125742
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125746
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.22	39	67.2	0.581	0.00000361	830
Missense (PolyPhen)		6	13.619	0.44055		191
Synonymous	0.663	21	25.2	0.832	0.00000166	179
Loss of Function	1.99	2	8.12	0.246	4.15e-7	86

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20. {ECO:0000269|PubMed:21926987}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

RVIS EVS: 0.08
RVIS percentile EVS: 59.43

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E

Gene Damage Prediction

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