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The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] See more...
Aliases for ELMO2 Gene
Aliases for ELMO2 Gene
External Ids for ELMO2 Gene
- HGNC: 17233
- Entrez Gene: 63916
- Ensembl: ENSG00000062598
- OMIM: 606421
- UniProtKB: Q96JJ3
Previous GeneCards Identifiers for ELMO2 Gene
- GC20M044723
- GC20M045633
- GC20M045680
- GC20M044428
- GC20M044994
- GC20M041735
Summaries for ELMO2 Gene
-
The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for ELMO2 Gene
ELMO2 (Engulfment And Cell Motility 2) is a Protein Coding gene. Diseases associated with ELMO2 include Vascular Malformation, Primary Intraosseous and Ramon Syndrome. Among its related pathways are Signaling by GPCR and Shigellosis. Gene Ontology (GO) annotations related to this gene include binding and receptor tyrosine kinase binding. An important paralog of this gene is ELMO1.
UniProtKB/Swiss-Prot Summary for ELMO2 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.
Additional gene information for ELMO2 Gene
- HGNC(17233)
- Entrez Gene(63916)
- Ensembl(ENSG00000062598)
- OMIM(606421)
- UniProtKB(Q96JJ3)
- Open Targets Platform(ENSG00000062598)
- Monarch Initiative
- Search for ELMO2 at DataMed
- Search for ELMO2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELMO2 Gene
Genomics for ELMO2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ELMO2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ELMO2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELMO2
- Top Transcription factor binding sites by QIAGEN in the ELMO2 gene promoter:
-
- AP-4
- Cart-1
- Egr-3
- FOXI1
- HFH-3
- HOXA5
- Pax-3
- STAT3
Genomic Locations for ELMO2 Gene
Genomic Locations for ELMO2 Gene
- chr20:46,366,045-46,432,985
- (GRCh38/hg38)
- Size:
- 66,941 bases
- Orientation:
- Minus strand
- chr20:44,994,688-45,061,704
- (GRCh37/hg19)
- Size:
- 67,017 bases
- Orientation:
- Minus strand
Genomic View for ELMO2 Gene
Genes around ELMO2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by HGNC
- 20q13.12 by Entrez Gene
- 20q13.12 by Ensembl
ELMO2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ELMO2 Gene
Proteins for ELMO2 Gene
-
Protein details for ELMO2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96JJ3-ELMO2_HUMAN
- Recommended name:
- Engulfment and cell motility protein 2
- Protein Accession:
- Q96JJ3
- E1P5T3
- Q5JVZ6
- Q7Z5G9
- Q96CJ2
- Q96ME5
- Q96PA9
- Q9H938
- Q9H9L5
- Q9HAH0
- Q9NQQ6
Protein attributes for ELMO2 Gene
- Size:
- 720 amino acids
- Molecular mass:
- 82615 Da
- Quaternary structure:
-
- Interacts with the SH3-domain of DOCK1 via its SH3-binding site. Probably part of a complex with DOCK1 and RAC1. Probably part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with ARHGEF16, DOCK4 and EPHA2; mediates activation of RAC1 by EPHA2 (PubMed:20679435). Interacts with ADGRB3 (PubMed:24567399). Interacts with AUTS2; the interaction is direct (By similarity).
- SequenceCaution:
-
- Sequence=BAB13879.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14210.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14405.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB47463.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for ELMO2 Gene
Post-translational modifications for ELMO2 Gene
Other Protein References for ELMO2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ELMO2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ELMO2
- Novus Biologicals Antibodies for ELMO2
-
Abcam antibodies for ELMO2
- Invitrogen Antibodies for ELMO2 (AFLGC-ELMO2)
-
Boster Bio Antibodies for ELMO2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ELMO2
- Sino Biological Antibodies for ELMO2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ELMO2
- Origene Custom Protein Services for ELMO2
- antibodies-online: Show 8 available ELMO2 Proteins ranked by validation data
- Compare Top ELMO2 Proteins
-
Quality Products:
-
Abcam proteins for ELMO2
Assay Products
No data available for DME Specific Peptides for ELMO2 Gene
Domains & Families for ELMO2 Gene
Gene Families for ELMO2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ELMO2 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- ProtoNet:
Suggested Antigen Peptide Sequences for ELMO2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60834, highly similar to Engulfment and cell motility protein 2 (CED-12 homolog A) (B4DRL5_HUMAN)
- cDNA FLJ56422, highly similar to Engulfment and cell motility protein 2 (B4DZ20_HUMAN)
- Protein ced-12 homolog A (ELMO2_HUMAN)
- Engulfment and cell motility 2 (Q5JVZ8_HUMAN)
- Engulfment and cell motility 2 (Q5JW01_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ELMO2 Gene
Function for ELMO2 Gene
Molecular function for ELMO2 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.
Phenotypes From GWAS Catalog for ELMO2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20679435 |
| GO:0017124 | SH3 domain binding | IEA | -- |
| GO:0030971 | receptor tyrosine kinase binding | IPI | 20679435 |
| GO:0048365 | Rac GTPase binding | IBA | 21873635 |
Phenotypes for ELMO2 Gene
- GenomeRNAi human phenotypes for ELMO2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Elongated cells with protrusions
- Decreased viability in esophageal squamous lineage
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELMO2 - Select products 50% OFF >
- * ELMO2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELMO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELMO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELMO2
miRNA for ELMO2 Gene
- miRTarBase miRNAs that target ELMO2
-
- hsa-miR-193b-3p (MIRT016514)
- hsa-miR-429 (MIRT016635)
- hsa-miR-200a-3p (MIRT020346)
- hsa-miR-200c-3p (MIRT021068)
- hsa-miR-141-3p (MIRT021653)
- hsa-miR-200b-3p (MIRT024122)
- hsa-miR-17-5p (MIRT050992)
- mmu-miR-706 (MIRT606452)
- mmu-miR-10a-5p (MIRT606454)
- mmu-miR-10b-5p (MIRT606455)
- mmu-miR-339-5p (MIRT606456)
- hsa-miR-193a-3p (MIRT727777)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELMO2
- Browse OriGene Inhibitory RNA Products For ELMO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELMO2
Clone Products
- Applied Biological Materials (abm): Clones for ELMO2 - Select products 50% OFF >
- * ELMO2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210342
- MG220040
- MG220048
- MR210342
- MR210342L3
- MR210342L4
- MR220040
- MR220040L3
- MR220040L4
- MR220048
- MR220048L3
- MR220048L4
- MR230970
- MR230976
- RC216889
- RC216889L1
- RC216889L2
- RC216889L3
- RC216889L4
- RC222021
- RC222021L3
- RC222021L4
- RG216889
- RG222021
- RR207686
- RR207686L3
- RR207686L4
- MR210342L3V
- MR210342L4V
- MR220040L3V
- MR220040L4V
- MR220048L3V
- MR220048L4V
- RC216889L1V
- RC216889L2V
- RC216889L3V
- RC216889L4V
- RC222021L3V
- RC222021L4V
- RR207686L3V
- RR207686L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ELMO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELMO2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ELMO2 Gene
Localization for ELMO2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ELMO2 Gene
- Cytoplasm. Cytoplasm, cytosol. Membrane.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA,IDA | 20679435 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ELMO2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of actin dynamics for phagocytic cup formation | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Signaling by PTK6 | ||
| 4 | RET signaling | ||
| 5 | Bacterial invasion of epithelial cells | ||
Pathways by source for ELMO2 Gene
2 KEGG pathways for ELMO2 Gene
Interacting Proteins for ELMO2 Gene
Selected Interacting proteins:
Q96JJ3-ELMO2_HUMAN
ENSP00000290246
for ELMO2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ELMO2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006909 | phagocytosis | IEA | -- |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0007015 | actin filament organization | IBA | 21873635 |
| GO:0016477 | cell migration | IEA | -- |
No data available for SIGNOR curated interactions for ELMO2 Gene
Transcripts for ELMO2 Gene
mRNA/cDNA for ELMO2 Gene
- 4 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000290246 3666 nts (view in UCSC)
- ENST00000467800 4121 nts (view in UCSC)
- ENST00000372176 3678 nts (view in UCSC)
- ENST00000452857 2158 nts (view in UCSC)
- ENST00000352077 2157 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELMO2 - Select products 50% OFF >
- * ELMO2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELMO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELMO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELMO2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELMO2
- Browse OriGene Inhibitory RNA Products For ELMO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELMO2
Clone Products
- Applied Biological Materials (abm): Clones for ELMO2 - Select products 50% OFF >
- * ELMO2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210342
- MG220040
- MG220048
- MR210342
- MR210342L3
- MR210342L4
- MR220040
- MR220040L3
- MR220040L4
- MR220048
- MR220048L3
- MR220048L4
- MR230970
- MR230976
- RC216889
- RC216889L1
- RC216889L2
- RC216889L3
- RC216889L4
- RC222021
- RC222021L3
- RC222021L4
- RG216889
- RG222021
- RR207686
- RR207686L3
- RR207686L4
- MR210342L3V
- MR210342L4V
- MR220040L3V
- MR220040L4V
- MR220048L3V
- MR220048L4V
- RC216889L1V
- RC216889L2V
- RC216889L3V
- RC216889L4V
- RC222021L3V
- RC222021L4V
- RR207686L3V
- RR207686L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ELMO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELMO2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||
| SP20: | |||||||||||||||||||||||||||||||
| SP21: | |||||||||||||||||||||||||||||||
| SP22: |
Relevant External Links for ELMO2 Gene
- GeneLoc Exon Structure for
- ELMO2
Expression for ELMO2 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (13.3), Breast (11.2), and Monocytes (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ELMO2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELMO2
SOURCE GeneReport for Unigene cluster for ELMO2 Gene:
Hs.210469mRNA Expression by UniProt/SwissProt for ELMO2 Gene:
Q96JJ3-ELMO2_HUMAN
Tissue specificity:
Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.
Evidence on tissue expression from TISSUES for ELMO2 Gene
- Nervous system(5)
- Skin(2.3)
- Kidney(2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for ELMO2
-
OriGene qPCR primer pairs and template standards for ELMO2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELMO2 Gene
Orthologs for ELMO2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ELMO2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ELMO2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ELMO2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ELMO2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Elmo2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Elmo2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ELMO2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ELMO2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ELMO2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | elmo1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68475 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ELMO2 31 |
|
OneToOne | |
| LOC100006857 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ced-12 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ced-12 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU03264 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3186 30 |
|
- Species where no ortholog for ELMO2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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 ELMO2 Gene
- ENSEMBL:
- Gene Tree for ELMO2 (if available)
- TreeFam:
- Gene Tree for ELMO2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ELMO2: view image
Paralogs for ELMO2 Gene
(2) SIMAP similar genes for ELMO2 Gene using alignment to 10 proteins:
- ELMO2_HUMAN
- B4DRL5_HUMAN
- B4DZ20_HUMAN
- F5GZP8_HUMAN
- H0YCM7_HUMAN
- Q5JVZ4_HUMAN
- Q5JVZ5_HUMAN
- Q5JVZ8_HUMAN
- Q5JW01_HUMAN
- Q7Z5G9_HUMAN
Pseudogenes.org Pseudogenes for ELMO2 Gene
Variants for ELMO2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELMO2 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 742204 | Likely Benign: not provided | 46,389,125(-) | G/A | SYNONYMOUS_VARIANT | |
| 747850 | Likely Benign: not provided | 46,394,081(-) | G/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 748468 | Likely Benign: not provided | 46,394,429(-) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 749007 | Likely Benign: not provided | 46,375,704(-) | T/C | SYNONYMOUS_VARIANT | |
| 773369 | Benign: not provided | 46,374,572(-) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3645953 | CNV | loss | 21293372 |
| nsv1057686 | CNV | loss | 25217958 |
| nsv586155 | CNV | loss | 21841781 |
| nsv820217 | CNV | loss | 19587683 |
| nsv979434 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.49;
43.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ELMO2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELMO2 Gene
Disorders for ELMO2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vascular malformation, primary intraosseous |
|
|
| ramon syndrome |
|
|
| adenoid hypertrophy |
|
|
Search ELMO2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ELMO2_HUMAN- Vascular malformation, primary intraosseous (VMOS) [MIM:606893]: A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive. {ECO:0000269 PubMed:27476657}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ELMO2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ELMO2 Gene
Publications for ELMO2 Gene
- 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 4
- Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. (PMID: 27476657) Cetinkaya A … Akarsu NA (American journal of human genetics 2016) 3 4
- 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
- Ephexin4 and EphA2 mediate cell migration through a RhoG-dependent mechanism. (PMID: 20679435) Hiramoto-Yamaki N … Katoh H (The Journal of cell biology 2010) 3 4
- Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento JL … Mychaleckyj JC (Genomics 2008) 3 41
ExternalLinks
Products for ELMO2 Gene
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- Boster Bio Antibodies for ELMO2
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Sources for ELMO2 Gene
- (1) GeneCards
- (2) HGNC
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- (4) UniProtKB/Swiss-Prot
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