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Aliases for ELMO3 Gene

Aliases for ELMO3 Gene

  • Engulfment And Cell Motility 3 2 3 5
  • Engulfment And Cell Motility 3 (Ced-12 Homolog, C. Elegans) 2
  • Engulfment And Cell Motility Protein 3 3
  • Ced-12 Homolog 3 3
  • CED-12 3
  • ELMO-3 3
  • CED12 3

External Ids for ELMO3 Gene

Previous GeneCards Identifiers for ELMO3 Gene

  • GC16P057927
  • GC16P067610
  • GC16P066968
  • GC16P067009
  • GC16P065790
  • GC16P053106

Summaries for ELMO3 Gene

Entrez Gene Summary for ELMO3 Gene

  • The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

GeneCards Summary for ELMO3 Gene

ELMO3 (Engulfment And Cell Motility 3) is a Protein Coding gene. Among its related pathways are Bacterial invasion of epithelial cells and Shigellosis. GO annotations related to this gene include binding and SH3 domain binding. An important paralog of this gene is ELMO1.

UniProtKB/Swiss-Prot for ELMO3 Gene

  • Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity).

Additional gene information for ELMO3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELMO3 Gene

Genomics for ELMO3 Gene

Regulatory Elements for ELMO3 Gene

Enhancers for ELMO3 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
GH16H067239 1.8 FANTOM5 ENCODE dbSUPER 12.3 +45.6 45624 10 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 ATP6V0D1 RN7SKP118 LOC100131303 FHOD1 ELMO3 C16orf86 NAE1 CENPT EDC4 LRRC36
GH16H066977 1.5 Ensembl ENCODE dbSUPER 14.5 -221.3 -221311 0 HDGF ARID4B SIN3A ZNF2 SLC30A9 GLIS2 ZNF143 RUNX3 DEK SP5 CES2 ELMO3 CBFB B3GNT9 FBXL8 TRADD HSF4 C16orf70 RRAD CDH16
GH16H067197 0.8 ENCODE 23.9 -0.4 -398 2 CTCF KLF1 MAX RAD21 ZFHX2 GLIS2 GATA3 POLR2A PATZ1 SMC3 ELMO3 ATP6V0D1 ENSG00000260465 DPEP2 E2F4
GH16H067177 1.4 Ensembl ENCODE dbSUPER 12 -20.7 -20705 1 ARID4B SIN3A DMAP1 ZNF2 ZNF121 SP3 SP5 YY2 ZHX2 MXD4 ELMO3 NOL3 KIAA0895L
GH16H067173 1.3 ENCODE dbSUPER 12.9 -24.8 -24848 2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SP3 SP5 ELMO3 ENSG00000260465 NOL3 KIAA0895L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELMO3 on UCSC Golden Path with GeneCards custom track

Promoters for ELMO3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087082 389 201 CTCF POLR2A MAX REST ZBTB33 MYC ZFX

Genomic Location for ELMO3 Gene

Chromosome:
16
Start:
67,199,111 bp from pter
End:
67,204,029 bp from pter
Size:
4,919 bases
Orientation:
Plus strand

Genomic View for ELMO3 Gene

Genes around ELMO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELMO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELMO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELMO3 Gene

Proteins for ELMO3 Gene

  • Protein details for ELMO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BJ8-ELMO3_HUMAN
    Recommended name:
    Engulfment and cell motility protein 3
    Protein Accession:
    Q96BJ8
    Secondary Accessions:
    • B4DV86
    • Q9H8A5

    Protein attributes for ELMO3 Gene

    Size:
    720 amino acids
    Molecular mass:
    81467 Da
    Quaternary structure:
    • Probably interacts directly with the SH3-domain of DOCK1 via its SH3-binding site. Part of a complex with DOCK1 and RAC1 (By similarity). Interacts with ADGRB3 (PubMed:24567399).

    Alternative splice isoforms for ELMO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELMO3 Gene

Post-translational modifications for ELMO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELMO3 Gene

No data available for DME Specific Peptides for ELMO3 Gene

Domains & Families for ELMO3 Gene

Gene Families for ELMO3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ELMO3 Gene

Suggested Antigen Peptide Sequences for ELMO3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ELMO3: view

No data available for UniProtKB/Swiss-Prot for ELMO3 Gene

Function for ELMO3 Gene

Molecular function for ELMO3 Gene

UniProtKB/Swiss-Prot Function:
Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity).

Phenotypes From GWAS Catalog for ELMO3 Gene

Gene Ontology (GO) - Molecular Function for ELMO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24567399
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ELMO3: view
genes like me logo Genes that share phenotypes with ELMO3: view

Animal Models for ELMO3 Gene

MGI Knock Outs for ELMO3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELMO3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ELMO3 Gene

Localization for ELMO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELMO3 Gene

Cytoplasm.

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 ELMO3 gene
Compartment Confidence
plasma membrane 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELMO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ELMO3: view

Pathways & Interactions for ELMO3 Gene

genes like me logo Genes that share pathways with ELMO3: view

Pathways by source for ELMO3 Gene

2 KEGG pathways for ELMO3 Gene

Gene Ontology (GO) - Biological Process for ELMO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006915 apoptotic process IEA --
GO:0016477 cell migration IEA --
genes like me logo Genes that share ontologies with ELMO3: view

No data available for SIGNOR curated interactions for ELMO3 Gene

Drugs & Compounds for ELMO3 Gene

(3) Drugs for ELMO3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ELMO3: view

Transcripts for ELMO3 Gene

Unigene Clusters for ELMO3 Gene

Engulfment and cell motility 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ELMO3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ELMO3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^
SP1: - - -
SP2: -
SP3: -
SP4: - - - -
SP5: - -
SP6: - -
SP7: - - - -
SP8:
SP9:
SP10:

ExUns: 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for ELMO3 Gene

GeneLoc Exon Structure for
ELMO3
ECgene alternative splicing isoforms for
ELMO3

Expression for ELMO3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELMO3 Gene

mRNA differential expression in normal tissues according to GTEx for ELMO3 Gene

This gene is overexpressed in Pancreas (x4.7) and Colon - Transverse (x4.4).

Protein differential expression in normal tissues from HIPED for ELMO3 Gene

This gene is overexpressed in Stomach (17.4), Salivary gland (17.4), Esophagus (7.3), and Monocytes (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELMO3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ELMO3 Gene:

ELMO3

SOURCE GeneReport for Unigene cluster for ELMO3 Gene:

Hs.377416

Evidence on tissue expression from TISSUES for ELMO3 Gene

  • Thyroid gland(4.2)
  • Intestine(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ELMO3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELMO3 Gene

Orthologs for ELMO3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELMO3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELMO3 33 34
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia ELMO3 33 34
  • 89.76 (n)
dog
(Canis familiaris)
Mammalia ELMO3 33 34
  • 86.39 (n)
mouse
(Mus musculus)
Mammalia Elmo3 33 16 34
  • 86.16 (n)
rat
(Rattus norvegicus)
Mammalia Elmo3 33
  • 85.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ELMO3 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELMO3 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELMO3 33 34
  • 72.11 (n)
lizard
(Anolis carolinensis)
Reptilia ELMO3 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elmo3 33
  • 61.29 (n)
zebrafish
(Danio rerio)
Actinopterygii im:7143453 33
  • 67.31 (n)
ELMO3 34
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ced-12 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-12 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
Species where no ortholog for ELMO3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELMO3 Gene

ENSEMBL:
Gene Tree for ELMO3 (if available)
TreeFam:
Gene Tree for ELMO3 (if available)

Paralogs for ELMO3 Gene

Paralogs for ELMO3 Gene

(2) SIMAP similar genes for ELMO3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ELMO3: view

Variants for ELMO3 Gene

Sequence variations from dbSNP and Humsavar for ELMO3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000042920 -- 67,198,827(+) GATTC(C/T)TATAT upstream-variant-2KB, utr-variant-3-prime
rs1000119091 -- 67,201,380(+) ACCCC(C/T)TCAGC intron-variant
rs1000155738 -- 67,198,591(+) TCCTC(C/T)TGGCC upstream-variant-2KB, utr-variant-3-prime
rs1000495378 -- 67,197,142(+) TCTGG(G/T)TGCAT intron-variant, upstream-variant-2KB
rs1000558856 -- 67,202,807(+) GGGAT(A/G)GATCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ELMO3 Gene

Variant ID Type Subtype PubMed ID
nsv1160429 CNV deletion 26073780
nsv457513 CNV loss 19166990
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv524492 CNV loss 19592680
nsv572905 CNV loss 21841781
nsv827707 CNV loss 20364138
nsv952044 CNV deletion 24416366

Variation tolerance for ELMO3 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.85; 83.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELMO3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELMO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMO3 Gene

Disorders for ELMO3 Gene

Relevant External Links for ELMO3

Genetic Association Database (GAD)
ELMO3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELMO3

No disorders were found for ELMO3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELMO3 Gene

Publications for ELMO3 Gene

  1. G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates. (PMID: 24567399) Hamoud N … Côté JF (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is required for phagocytosis and cell migration. (PMID: 11595183) Gumienny TL … Ravichandran KS (Cell 2001) 2 3 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ELMO3 Gene

Sources for ELMO3 Gene

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