U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ELMOD2 ELMO domain containing 2 [ Homo sapiens (human) ]

Gene ID: 255520, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
ELMOD2provided by HGNC
Official Full Name
ELMO domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28111
See related
Ensembl:ENSG00000179387 MIM:610196; AllianceGenome:HGNC:28111
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
9830169G11Rik
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]
Expression
Ubiquitous expression in thyroid (RPKM 4.2), adrenal (RPKM 3.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ELMOD2 in Genome Data Viewer
Location:
4q31.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (140524168..140553770)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143843841..143873475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141445322..141474924)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene calmegin Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:141334799-141335364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21935 Neighboring gene MGAT4 family member D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141418967-141419468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141419469-141419968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15711 Neighboring gene uncoupling protein 1 Neighboring gene RNA, 7SL, cytoplasmic 152, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2. Schiavon CR, et al. Mol Biol Cell, 2019 May 1. PMID 30865555, Free PMC Article
  2. ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses. Pulkkinen V, et al. FASEB J, 2010 Apr. PMID 19966137
  3. ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Hodgson U, et al. Am J Hum Genet, 2006 Jul. PMID 16773575, Free PMC Article
  4. Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. Ivanova AA, et al. J Biol Chem, 2014 Apr 18. PMID 24616099, Free PMC Article
  5. ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. Bowzard JB, et al. J Biol Chem, 2007 Jun 15. PMID 17452337

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results suggest that ELMOD2 is functioning as an effector downstream of ARL2 and upstream of the mitofusins to promote mitochondrial fusion. Data provide insights into the pathway by which mitochondrial fusion is regulated in the cell.
    Title: ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2.
  2. The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity.
    Title: Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.
  3. TLR3 pathway is dependent on ELMOD2
    Title: ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses.
  4. Results describe the purification from bovine testis of an Arl2 GAP and its identity as ELMOD2, a protein with no previously described function.
    Title: ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs.
  5. results suggest ELMOD2 as a novel candidate gene for susceptibility in familial idiopathic pulmonary fibrosis
    Title: ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with select biomarker traits in the Framingham Heart Study.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ35768, FLJ38038, MGC10084

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of defense response to virus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
ELMO domain-containing protein 2
Names
ELMO/CED-12 domain containing 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027825.1 RefSeqGene

    Range
    5011..34613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153702.4 → NP_714913.1  ELMO domain-containing protein 2

    See identical proteins and their annotated locations for NP_714913.1

    Status: REVIEWED

    Source sequence(s)
    AC093671, AK312800, BX648349, BX648843
    Consensus CDS
    CCDS3752.1
    UniProtKB/Swiss-Prot
    B2R712, D3DNZ0, Q8IZ81
    Related
    ENSP00000326342.3, ENST00000323570.8
    Conserved Domains (1) summary
    pfam04727
    Location:112 → 265
    ELMO_CED12; ELMO/CED-12 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    140524168..140553770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262885.4 → XP_005262942.1  ELMO domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam04727
    Location:124 → 277
    ELMO_CED12; ELMO/CED-12 family

  2. XM_011531819.3 → XP_011530121.1  ELMO domain-containing protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011530121.1

    UniProtKB/Swiss-Prot
    B2R712, D3DNZ0, Q8IZ81
    Conserved Domains (1) summary
    pfam04727
    Location:112 → 265
    ELMO_CED12; ELMO/CED-12 family

  3. XM_011531818.3 → XP_011530120.1  ELMO domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    pfam04727
    Location:124 → 257
    ELMO_CED12; ELMO/CED-12 family

  4. XM_047449980.1 → XP_047305936.1  ELMO domain-containing protein 2 isoform X4

  5. XM_047449981.1 → XP_047305937.1  ELMO domain-containing protein 2 isoform X5

RNA

  1. XR_001741193.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    143843841..143873475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349542.1 → XP_054205517.1  ELMO domain-containing protein 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R712, D3DNZ0, Q8IZ81

  2. XM_054349541.1 → XP_054205516.1  ELMO domain-containing protein 2 isoform X2

  3. XM_054349543.1 → XP_054205518.1  ELMO domain-containing protein 2 isoform X4

  4. XM_054349540.1 → XP_054205515.1  ELMO domain-containing protein 2 isoform X1

  5. XM_054349544.1 → XP_054205519.1  ELMO domain-containing protein 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZ81.1 GenPept UniProtKB/Swiss-Prot:Q8IZ81

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous