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Aliases for ELMOD2 Gene

Aliases for ELMOD2 Gene

  • ELMO Domain Containing 2 2 3
  • ELMO/CED-12 Domain Containing 2 2 3 5
  • 9830169G11Rik 3

External Ids for ELMOD2 Gene

Previous GeneCards Identifiers for ELMOD2 Gene

  • GC04P141802
  • GC04P141664
  • GC04P141445
  • GC04P137175

Summaries for ELMOD2 Gene

Entrez Gene Summary for ELMOD2 Gene

  • 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]

GeneCards Summary for ELMOD2 Gene

ELMOD2 (ELMO Domain Containing 2) is a Protein Coding gene. Diseases associated with ELMOD2 include Patent Foramen Ovale and Pulmonary Fibrosis, Idiopathic. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is ELMOD1.

UniProtKB/Swiss-Prot for ELMOD2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMOD2 Gene

Genomics for ELMOD2 Gene

Regulatory Elements for ELMOD2 Gene

Enhancers for ELMOD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ELMOD2 on UCSC Golden Path with GeneCards custom track

Promoters for ELMOD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELMOD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELMOD2 Gene

Chromosome:
4
Start:
140,524,158 bp from pter
End:
140,553,770 bp from pter
Size:
29,613 bases
Orientation:
Plus strand

Genomic View for ELMOD2 Gene

Genes around ELMOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMOD2 Gene

Proteins for ELMOD2 Gene

  • Protein details for ELMOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ81-ELMD2_HUMAN
    Recommended name:
    ELMO domain-containing protein 2
    Protein Accession:
    Q8IZ81
    Secondary Accessions:
    • B2R712
    • D3DNZ0

    Protein attributes for ELMOD2 Gene

    Size:
    293 amino acids
    Molecular mass:
    34961 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ELMOD2 Gene

Proteomics data for ELMOD2 Gene at MOPED

Post-translational modifications for ELMOD2 Gene

  • Ubiquitination at Lys 61 and Lys 150
  • Modification sites at PhosphoSitePlus

Other Protein References for ELMOD2 Gene

No data available for DME Specific Peptides for ELMOD2 Gene

Domains & Families for ELMOD2 Gene

Protein Domains for ELMOD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELMOD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZ81

UniProtKB/Swiss-Prot:

ELMD2_HUMAN :
  • Contains 1 ELMO domain.
Domain:
  • Contains 1 ELMO domain.
genes like me logo Genes that share domains with ELMOD2: view

No data available for Gene Families for ELMOD2 Gene

Function for ELMOD2 Gene

Molecular function for ELMOD2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for ELMOD2 Gene

genes like me logo Genes that share phenotypes with ELMOD2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELMOD2 Gene

Localization for ELMOD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELMOD2 Gene COMPARTMENTS Subcellular localization image for ELMOD2 gene
Compartment Confidence
cytosol 3
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ELMOD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ELMOD2 Gene

Pathways & Interactions for ELMOD2 Gene

SuperPathways for ELMOD2 Gene

No Data Available

Interacting Proteins for ELMOD2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326342%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000339467%0d%0a9606.ENSP00000305973%0d%0a
Selected Interacting proteins: ENSP00000326342 Q8IZ81-ELMD2_HUMAN for ELMOD2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ELMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050688 regulation of defense response to virus IDA 17452337
genes like me logo Genes that share ontologies with ELMOD2: view

No data available for Pathways by source and SIGNOR curated interactions for ELMOD2 Gene

Drugs & Compounds for ELMOD2 Gene

No Compound Related Data Available

Transcripts for ELMOD2 Gene

Unigene Clusters for ELMOD2 Gene

ELMO/CED-12 domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELMOD2 Gene

No ASD Table

Relevant External Links for ELMOD2 Gene

GeneLoc Exon Structure for
ELMOD2
ECgene alternative splicing isoforms for
ELMOD2

Expression for ELMOD2 Gene

mRNA expression in normal human tissues for ELMOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELMOD2 Gene

This gene is overexpressed in Nasal epithelium (44.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ELMOD2 Gene



SOURCE GeneReport for Unigene cluster for ELMOD2 Gene Hs.450105

mRNA Expression by UniProt/SwissProt for ELMOD2 Gene

Q8IZ81-ELMD2_HUMAN
Tissue specificity: Alveolar cells (morphologically type II cells) and alveolar macrophages (at protein level). Expressed in brain, colon, heart, kidney, liver, lung, muscle, placenta, small intestine, spleen, stomach and testis. In lung it is expressed in alveolar macrophages and alveolar walls.
genes like me logo Genes that share expression patterns with ELMOD2: view

Protein tissue co-expression partners for ELMOD2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for ELMOD2 Gene

Orthologs for ELMOD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELMOD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC515278 35
  • 93.52 (n)
  • 94.2 (a)
ELMOD2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELMOD2 35
  • 92.49 (n)
  • 93.86 (a)
ELMOD2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elmod2 35
  • 83.73 (n)
  • 87.03 (a)
Elmod2 16
Elmod2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELMOD2 35
  • 99.54 (n)
  • 99.66 (a)
ELMOD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elmod2 35
  • 83.05 (n)
  • 86.01 (a)
oppossum
(Monodelphis domestica)
Mammalia ELMOD2 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves ELMOD2 35
  • 72.97 (n)
  • 71.13 (a)
ELMOD2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod2 35
  • 67.81 (n)
  • 67.35 (a)
Str.19300 35
African clawed frog
(Xenopus laevis)
Amphibia MGC69076 35
zebrafish
(Danio rerio)
Actinopterygii elmod2 35
  • 65.75 (n)
  • 61.51 (a)
elmod2 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001450 35
  • 51.71 (n)
  • 45.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10068 35
  • 49.82 (n)
  • 46.59 (a)
CG10068 36
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67400 35
  • 44.15 (n)
  • 30.89 (a)
rice
(Oryza sativa)
Liliopsida Os11g0483900 35
  • 45.36 (n)
  • 28.87 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.796 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
Species with no ortholog for ELMOD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELMOD2 Gene

ENSEMBL:
Gene Tree for ELMOD2 (if available)
TreeFam:
Gene Tree for ELMOD2 (if available)

Paralogs for ELMOD2 Gene

Paralogs for ELMOD2 Gene

(1) SIMAP similar genes for ELMOD2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ELMOD2: view

Variants for ELMOD2 Gene

Sequence variations from dbSNP and Humsavar for ELMOD2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs882930 -- 140,537,331(-) TGTCT(A/C)TTTAG intron-variant
rs959116 -- 140,538,089(-) TACTT(C/T)AGAAA intron-variant
rs1272466 -- 140,549,944(+) agtct(C/T)tgaaa intron-variant, downstream-variant-500B
rs1494807 -- 140,549,743(-) gtacc(A/C)ctgca intron-variant, downstream-variant-500B
rs2172790 -- 140,549,714(-) CCTAT(C/T)TCCaa intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ELMOD2 Gene

Variant ID Type Subtype PubMed ID
nsv880165 CNV Loss 21882294
nsv830088 CNV Gain 17160897
nsv880166 CNV Loss 21882294

Variation tolerance for ELMOD2 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.87% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ELMOD2 Gene

Disorders for ELMOD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ELMOD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
patent foramen ovale
  • atrial septal defect within oval fossa
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ELMOD2

Genetic Association Database (GAD)
ELMOD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELMOD2
genes like me logo Genes that share disorders with ELMOD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELMOD2 Gene

Publications for ELMOD2 Gene

  1. ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. (PMID: 16773575) Hodgson U. … Laitinen T. (Am. J. Hum. Genet. 2006) 2 3 4 67
  2. Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. (PMID: 24616099) Ivanova A.A. … Kahn R.A. (J. Biol. Chem. 2014) 3
  3. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3
  4. Defining the membrane proteome of NK cells. (PMID: 19946888) Ghosh D. … Wilkins J.A. (J Mass Spectrom 2010) 3
  5. ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses. (PMID: 19966137) Pulkkinen V. … Kere J. (FASEB J. 2010) 3

Products for ELMOD2 Gene

Sources for ELMOD2 Gene

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