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Aliases for ELMOD2 Gene

Aliases for ELMOD2 Gene

  • ELMO Domain Containing 2 2 3 5
  • ELMO/CED-12 Domain Containing 2 2 3
  • ELMO Domain-Containing Protein 2 3
  • 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 Pulmonary Fibrosis and Patent Foramen Ovale. Among its related pathways are Lung fibrosis. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G140764 0.9 ENCODE 24.1 +240.8 240834 0.1 PKNOX1 ZNF493 ZEB1 ZNF121 ZNF138 ZNF354C KLF7 ZNF202 ZBTB11 NFYC MAML3 ELMOD2 ENSG00000248335 SCOC-AS1 TNRC18P1 ENSG00000273472 ENSG00000222613
GH04G140250 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -269.7 -269694 7.5 PKNOX1 SIN3A ZNF121 ZNF766 GLIS2 GATA2 ZNF143 FOS SMARCA4 GLIS1 MAML3 LOC101927516 ELMOD2 SCOC
GH04G139550 1.6 Ensembl ENCODE dbSUPER 10.2 -969.0 -968965 8.7 PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 YY1 ZNF263 SP3 REST MAML3 ELMOD2 NDUFC1 ENSG00000272717 FTH1P24
GH04G139890 0.8 Ensembl ENCODE 10.4 -633.1 -633062 1.0 CTCF JUN GLIS1 FOS ZNF548 ZIC2 RAD21 TNRC18P1 NAA15 ELMOD2 MAML3 LOC105377452 GC04M139789
GH04G140523 1.1 ENCODE 0.7 +0.1 128 1.7 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 CLGN ELMOD2 UCP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000173872 242 1601 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207

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

Post-translational modifications for ELMOD2 Gene

  • Ubiquitination at Lys61 and isoforms=150
  • Modification sites at PhosphoSitePlus

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for ELMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 17452337
genes like me logo Genes that share ontologies with ELMOD2: view
genes like me logo Genes that share phenotypes with ELMOD2: view

Animal Models for ELMOD2 Gene

MGI Knock Outs for ELMOD2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELMOD2 Gene

Localization for ELMOD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELMOD2 gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 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

SuperPathway Contained pathways
1 Lung fibrosis
genes like me logo Genes that share pathways with ELMOD2: view

Pathways by source for ELMOD2 Gene

1 BioSystems pathway for ELMOD2 Gene

Interacting Proteins for ELMOD2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000326342%0d%0a9606.ENSP00000339467%0d%0a
Selected Interacting proteins: ENSP00000326342 Q8IZ81-ELMD2_HUMAN for ELMOD2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ELMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050688 regulation of defense response to virus IDA 17452337
GO:0051607 defense response to virus IEA --
genes like me logo Genes that share ontologies with ELMOD2: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ELMOD2 Gene



Protein tissue co-expression partners for ELMOD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELMOD2 Gene:

ELMOD2

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.

Evidence on tissue expression from TISSUES for ELMOD2 Gene

  • Pancreas(4.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ELMOD2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ELMOD2 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia ELMOD2 35
  • 94 (a)
OneToOne
LOC515278 34
  • 93.52 (n)
dog
(Canis familiaris)
Mammalia ELMOD2 34 35
  • 92.49 (n)
mouse
(Mus musculus)
Mammalia Elmod2 34 16 35
  • 83.73 (n)
rat
(Rattus norvegicus)
Mammalia Elmod2 34
  • 83.05 (n)
oppossum
(Monodelphis domestica)
Mammalia ELMOD2 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves ELMOD2 34 35
  • 72.97 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia elmod2 34
  • 67.81 (n)
Str.19300 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69076 34
zebrafish
(Danio rerio)
Actinopterygii elmod2 34 35
  • 65.75 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001450 34
  • 51.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10068 34 35
  • 49.82 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67400 34
  • 44.15 (n)
rice
(Oryza sativa)
Liliopsida Os11g0483900 34
  • 45.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.796 34
Species where no ortholog for ELMOD2 was found in the sources mined by GeneCards:
  • 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
rs796052155 Likely benign 140,543,524(+) TTTGA(A/G)GTTTC nc-transcript-variant, reference, missense
rs142450830 Benign 140,540,196(+) GAAGA(A/C)GTTAA nc-transcript-variant, reference, missense
rs75824346 Benign 140,550,384(+) ATCCA(C/T)TGTAT nc-transcript-variant, utr-variant-3-prime
rs1000210654 -- 140,528,291(+) CCAAT(A/G)ATTCA intron-variant
rs1000256134 -- 140,550,242(+) TGTCT(A/T)TGAAT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv830088 CNV gain 17160897

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)

Relevant External Links for ELMOD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMOD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMOD2 Gene

Disorders for ELMOD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ELMOD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis
  • fibrosis of lung
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 64
  2. ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses. (PMID: 19966137) Pulkkinen V. … Kere J. (FASEB J. 2010) 3 4 64
  3. ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. (PMID: 17452337) Bowzard J.B. … Kahn R.A. (J. Biol. Chem. 2007) 3 4 64
  4. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin E.J. … Vasan R.S. (BMC Med. Genet. 2007) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ELMOD2 Gene

Sources for ELMOD2 Gene

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