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

    Gene ID: 63916, updated on 3-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
    mouse all
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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 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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    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
    		Compare labs

    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

    Gene LinkOut

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