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

    Gene ID: 63916, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      Q5JVZ5
    4. XM_047440362.1 → XP_047296318.1  engulfment and cell motility protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z1S8

    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
      UniProtKB/TrEMBL
      Q5JVZ5
    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
      UniProtKB/TrEMBL
      Q5JVZ5
    3. XM_054323813.1 → XP_054179788.1  engulfment and cell motility protein 2 isoform X2

      UniProtKB/TrEMBL
      Q5JVZ5
    4. XM_054323814.1 → XP_054179789.1  engulfment and cell motility protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z1S8

    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.