ELAPOR2

protein-coding

endosome-lysosome associated apoptosis and autophagy regulator family member 2

Gene summary

Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1324L

MANE transcript

NM_001142749.3

Inheritance

—

ClinVar variants

U:150B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr7:86,876,906-87,059,654

External References & Databases

Ensembl (ENSG00000164659)

Transcript & Mutation Effects

hg38 • Region Span ~182.7 kb

Loading mutation effect viewer...

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 ELAPOR2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 142

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001142749.3. 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						0
missense			142 clinvar	3 clinvar		145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	150	3	0	153

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001142749.3	RefSeq	NP_001136221.1	22	MANE Select
ENST00000450689.7	Ensembl	ENSP00000413445.2	22	MANE Select
NM_001291990.1	RefSeq	NP_001278919.1	20	Standard
NM_001291991.2	RefSeq	NP_001278920.1	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000450689
Coding exons: 22
Length: 182794
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125745
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.15	367	503	0.730	0.0000243	6753
Missense (PolyPhen)		105	185.13	0.56717		2382
Synonymous	0.981	169	186	0.908	0.0000100	1915
Loss of Function	4.11	17	47.6	0.357	0.00000209	693

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00029	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.00020	0.00020	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.802
RVIS EVS: -0.4
RVIS percentile EVS: 26.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.521

Gene Damage Prediction

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