ELMOD2

protein-coding

ELMO domain containing 2, the group of ELMO domain containing

Gene summary

This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]

MANE transcript

NM_153702.4

Inheritance

—

ClinVar variants

U:43B:8

Top phenotype

ELMOD2-related disorder

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr4:140,524,168-140,553,770

External References & Databases

Ensembl (ENSG00000179387)

Transcript & Mutation Effects

hg38 • Region Span ~29.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

idiopathic pulmonary fibrosisNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0800504

Submitter: ClinGen

The *ELMOD2* gene was first reported in relation to an unknown inheritance disorder of familial idiopathic pulmonary fibrosis in 2006 (Hodgson et al., PMID: 16773575). There has not been further evidence in the literature associating this gene with a specific phenotype. There is no proband described in this paper. Currently, there are no OMIM phenotypes associated with this gene. A gene-disease relationship in the published case report was postulated by genome wide linkage analysis combined with haplotype association. However, the families were reportedly all from within three rural municipalities where the prevalence of FPF was 50-fold higher than in the rest of the country and potentially shared a common ancestor. This evidence was not scored in the present curation due to no variant being discussed. In summary, there is no evidence for a causal role for *ELMOD2* in an unknown inheritance disorder of familial idiopathic pulmonary fibrosis has been reported. This classification was approved by the ClinGen ILD GCEP on the meeting date October 27, 2025 (SOP Version 11).

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ELMOD2 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 46

ELMOD2-related disorderTotal: 3

not providedTotal: 2

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153702.4. 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	4 clinvar		5
missense			38 clinvar	4 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	43	8	0	51

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153702.4	RefSeq	NP_714913.1	8	MANE Select
ENST00000323570.8	Ensembl	ENSP00000326342.3	8	MANE Select
ENST00000502397.5	Ensembl	ENSP00000422582.1	5	Standard
ENST00000507667.1	Ensembl	ENSP00000427265.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in lymphocytes - TarBase
miR-targeted genes in muscle cell - TarBase
Lung fibrosis

Biological Process

positive regulation of GTPase activity
regulation of defense response to virus
defense response to virus

Molecular Function

GTPase activator activity

Cellular Component

membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000323570
Coding exons: 8
Length: 29613
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 31
Defined: 125744
p: 0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.565	129	148	0.870	0.00000693	1969
Missense (PolyPhen)		46	60.742	0.75731		829
Synonymous	0.249	46	48.2	0.954	0.00000231	471
Loss of Function	3.10	4	18.3	0.218	0.00000102	221

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.000076	0.000065	rare
Other	0.00020	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses. {ECO:0000269|PubMed:17452337, ECO:0000269|PubMed:19966137}.;

Recessive Scores

pRec: 0.120

Intolerance Scores

LoFtool: 0.470
RVIS EVS: 0.19
RVIS percentile EVS: 66.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.876

Gene Damage Prediction

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