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ELMO2 engulfment and cell motility 2 [ Homo sapiens (human) ]

Gene ID: 63916, updated on 27-Nov-2024

Summary

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Official Symbol
ELMO2provided by HGNC
Official Full Name
engulfment and cell motility 2provided by HGNC
Primary source
HGNC:HGNC:17233
See related
Ensembl:ENSG00000062598 MIM:606421; AllianceGenome:HGNC:17233
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
VMPI; CED12; CED-12; ELMO-2; Ced-12A
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 20.6), testis (RPKM 16.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ELMO2 in Genome Data Viewer
Location:
20q13.12
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46366050..46406615, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48102079..48142641, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44994689..45035254, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904916 Neighboring gene cadherin 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17968 Neighboring gene Sharpr-MPRA regulatory region 13247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44844486-44845022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44845561-44846096 Neighboring gene MPRA-validated peak4226 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44886736-44887236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44928578-44929078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44929079-44929579 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44932028-44932246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44941853-44942801 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44952422-44952611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44966161-44966662 Neighboring gene Sharpr-MPRA regulatory region 3506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44979919-44980510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44980511-44981101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44985189-44985688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12974 Neighboring gene uncharacterized LOC124904917 Neighboring gene solute carrier family 35 member C2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17971 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:45022873-45023372 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:45034435-45035064 and GRCh37_chr20:45035065-45035694 Neighboring gene uncharacterized LOC105372633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17973 Neighboring gene NANOG hESC enhancer GRCh37_chr20:45052681-45053240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17974 Neighboring gene zinc finger protein 663, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis. Liu W, et al. J Cell Mol Med, 2020 Apr. PMID 32164040, Free PMC Article
  2. Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up. Vargel I, et al. Ann Plast Surg, 2019 Sep. PMID 30882408
  3. Axl phosphorylates Elmo scaffold proteins to promote Rac activation and cell invasion. Abu-Thuraia A, et al. Mol Cell Biol, 2015 Jan. PMID 25332238, Free PMC Article
  4. Emerging role of ILK and ELMO2 in the integration of adhesion and migration pathways. Ho E, et al. Cell Adh Migr, 2012 May-Jun. PMID 22568984, Free PMC Article
  5. ELMO recruits actin cross-linking family 7 (ACF7) at the cell membrane for microtubule capture and stabilization of cellular protrusions. Margaron Y, et al. J Biol Chem, 2013 Jan 11. PMID 23184944, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis.
    Title: Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis.
  2. Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up.
    Title: Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up.
  3. Study demonstrated that an evolutionarily conserved fragment in the C-terminal cytoplasmic tail of BAI-aGPCRs is specifically recognized by the RBD-ARR-ELMO (RAE) supramodule of the ELMO family scaffolds. The crystal structures of ELMO2-RAE and its complex with BAI1 uncover the molecular basis of BAI/ELMO interactions.
    Title: Structure of BAI1/ELMO2 complex reveals an action mechanism of adhesion GPCRs via ELMO family scaffolds.
  4. These data suggest a novel link between Tiam1 and RhoG/ILK /ELMO2 pathway as upstream effectors of the Rac1-mediated phagocytic process in trabecular meshwork cells.
    Title: Involvement of Tiam1, RhoG and ELMO2/ILK in Rac1-mediated phagocytosis in human trabecular meshwork cells.
  5. studies demonstrate that Elmo2 is a new regulator of insulin-dependent Glut4 membrane translocation through modulating Rac1 activity and Akt membrane compartmentalization.
    Title: Elmo2 Is a Regulator of Insulin-dependent Glut4 Membrane Translocation.
  6. findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones; loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling
    Title: Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
  7. Axl has a role in phosphorylating the Elmo scaffold proteins to promote Rac activation and cell invasion
    Title: Axl phosphorylates Elmo scaffold proteins to promote Rac activation and cell invasion.
  8. uncovered a role for ELMO in the recruitment of ACF7 to the membrane to promote microtubule capture and stability
    Title: ELMO recruits actin cross-linking family 7 (ACF7) at the cell membrane for microtubule capture and stabilization of cellular protrusions.
  9. Through its association with ELMO2, ILK plays key roles in the regulation of Rho GTPases and cross-talk pathways between adhesion and growth factor receptors.
    Title: Emerging role of ILK and ELMO2 in the integration of adhesion and migration pathways.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.
Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Primary intraosseous venous malformation
MedGen: C1847197 OMIM: 606893 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11656, KIAA1834

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phagocytosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
engulfment and cell motility protein 2
Names
PH domain protein CED12A
ced-12 homolog 2
protein ced-12 homolog A

NCBI Reference Sequences (RefSeq)

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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_053169.1 RefSeqGene

    Range
    5437..46002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318253.2 → NP_001305182.1  engulfment and cell motility protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AL133227, BC000143, CA444293, DA224400
    Consensus CDS
    CCDS82623.1
    UniProtKB/TrEMBL
    Q5JVZ5
    Related
    ENSP00000361249.1, ENST00000372176.5
    Conserved Domains (3) summary
    cd13359
    Location:451 → 580
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:208 → 381
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:27 → 183
    DUF3361; Domain of unknown function (DUF3361)

  2. NM_133171.5 → NP_573403.1  engulfment and cell motility protein 2 isoform a

    See identical proteins and their annotated locations for NP_573403.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB058737, AL133227, CA444293, DA224400
    Consensus CDS
    CCDS13398.1
    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
    UniProtKB/TrEMBL
    Q5JVZ5
    Related
    ENSP00000290246.6, ENST00000290246.11
    Conserved Domains (3) summary
    cd13359
    Location:539 → 668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:295 → 474
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:116 → 271
    DUF3361; Domain of unknown function (DUF3361)

  3. NM_182764.3 → NP_877496.1  engulfment and cell motility protein 2 isoform a

    See identical proteins and their annotated locations for NP_877496.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AL133227, BX648819
    Consensus CDS
    CCDS13398.1
    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
    UniProtKB/TrEMBL
    Q5JVZ5
    Related
    ENSP00000379673.1, ENST00000396391.5
    Conserved Domains (3) summary
    cd13359
    Location:539 → 668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:295 → 474
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:116 → 271
    DUF3361; Domain of unknown function (DUF3361)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46366050..46406615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723854.4 → XP_006723917.1  engulfment and cell motility protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006723917.1

    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
    UniProtKB/TrEMBL
    Q5JVZ5
    Conserved Domains (3) summary
    cd13359
    Location:539 → 668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:295 → 474
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:116 → 271
    DUF3361; Domain of unknown function (DUF3361)

  2. XM_005260496.4 → XP_005260553.1  engulfment and cell motility protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005260553.1

    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6
    UniProtKB/TrEMBL
    Q5JVZ5
    Conserved Domains (3) summary
    cd13359
    Location:539 → 668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:295 → 474
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:116 → 271
    DUF3361; Domain of unknown function (DUF3361)

  3. XM_047440361.1 → XP_047296317.1  engulfment and cell motility protein 2 isoform X2

  4. XM_047440362.1 → XP_047296318.1  engulfment and cell motility protein 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    48102079..48142641 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323811.1 → XP_054179786.1  engulfment and cell motility protein 2 isoform X1

    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6

  2. XM_054323812.1 → XP_054179787.1  engulfment and cell motility protein 2 isoform X1

    UniProtKB/Swiss-Prot
    E1P5T3, Q5JVZ6, Q7Z5G9, Q96CJ2, Q96JJ3, Q96ME5, Q96PA9, Q9H938, Q9H9L5, Q9HAH0, Q9NQQ6

  3. XM_054323813.1 → XP_054179788.1  engulfment and cell motility protein 2 isoform X2

  4. XM_054323814.1 → XP_054179789.1  engulfment and cell motility protein 2 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022086.6: Suppressed sequence

    Description
    NM_022086.6: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JJ3.2 GenPept UniProtKB/Swiss-Prot:Q96JJ3

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