BCL2L14

protein-coding

BCL2 like 14, the group of BCL2 family

Gene summary

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]

MANE transcript

NM_138723.2

Inheritance

—

ClinVar variants

U:47B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr12:12,049,844-12,211,084

External References & Databases

Ensembl (ENSG00000121380)

Transcript & Mutation Effects

hg38 • Region Span ~161.2 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 BCL2L14 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 45

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138723.2. 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			45 clinvar	1 clinvar		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	47	1	1	49

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138723.2	RefSeq	NP_620049.1	5	MANE Select
ENST00000308721.9	Ensembl	ENSP00000309132.4	5	MANE Select
NM_001370268.1	RefSeq	NP_001357197.1	5	Standard
NM_001370269.1	RefSeq	NP_001357198.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

TP53 Regulates Transcription of Cell Death Genes
Regulation of Apoptosis by Parathyroid Hormone-related Protein
Gene expression (Transcription)
Generic Transcription Pathway
TP53 Regulates Transcription of Cell Death Genes

Biological Process

apoptotic process
regulation of apoptotic process

Molecular Function

protein binding
protein kinase binding

Cellular Component

cytosol
endomembrane system
membrane
intracellular organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000308721
Coding exons: 5
Length: 161241
Individuals with no LoFs: 125712
Homozygous LoFs: 1
Heterozygous LoFs: 34
Defined: 125747
p: 0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0000916	170	170	1.00	0.00000843	2140
Missense (PolyPhen)		56	53.232	1.052		705
Synonymous	0.404	65	69.3	0.938	0.00000396	625
Loss of Function	1.28	9	14.2	0.634	6.54e-7	176

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00027	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.00059	0.00056	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in apoptosis.;

Recessive Scores

pRec: 0.0816

Intolerance Scores

LoFtool: 0.212
RVIS EVS: 0.91
RVIS percentile EVS: 89.47

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.766

Gene Damage Prediction

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