CIDEB

protein-coding

cell death inducing DFFA like effector b

Gene summary

Enables identical protein binding activity. Involved in lipid droplet fusion and positive regulation of apoptotic process. Acts upstream of or within apoptotic process. Located in cytosol and perinuclear region of cytoplasm. Is active in lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001393339.1

Inheritance

—

ClinVar variants

U:42B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.51

Max pathogenic AF

—

Genomic locus

chr14:24,305,187-24,311,430

External References & Databases

Ensembl (ENSG00000136305)

Transcript & Mutation Effects

hg38 • Region Span ~6.2 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 CIDEB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 39

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393339.1. 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			2 clinvar			2
missense			38 clinvar	2 clinvar		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	42	2	0	44

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 54 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393339.1	RefSeq	NP_001380268.1	5	MANE Select
ENST00000554411.6	Ensembl	ENSP00000451089.1	5	MANE Select
NM_001318807.3	RefSeq	NP_001305736.1	5	Standard
NM_001393334.1	RefSeq	NP_001380263.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process
intrinsic apoptotic signaling pathway in response to DNA damage
positive regulation of cell death
positive regulation of release of cytochrome c from mitochondria
execution phase of apoptosis

Molecular Function

protein binding
identical protein binding

Cellular Component

lipid droplet
cytosol
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000336557
Coding exons: 5
Length: 6335
Individuals with no LoFs: 125482
Homozygous LoFs: 2
Heterozygous LoFs: 264
Defined: 125748
p: 0.00106

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.120	123	127	0.970	0.00000745	1388
Missense (PolyPhen)		44	43.028	1.0226		450
Synonymous	0.145	50	51.3	0.974	0.00000261	466
Loss of Function	-1.63	18	11.9	1.51	7.43e-7	117

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.0017	0.0017	notable
Ashkenazi Jewish	0.0010	0.00099	notable
East Asian	0.00011	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0010	0.0010	notable
South Asian	0.0022	0.0021	notable
Other	0.0015	0.0015	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Activates apoptosis.;

Recessive Scores

pRec: 0.0843

Intolerance Scores

LoFtool: 0.699
RVIS EVS: -0.78
RVIS percentile EVS: 12.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.795

Gene Damage Prediction

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