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

Gene ID: 63916, updated on 13-Mar-2020

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
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

Genomic context

See ELMO2 in Genome Data Viewer
Location:
20q13.12
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (46366045..46407051, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44994689..45035690, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cadherin 22 Neighboring gene solute carrier family 35 member C2 Neighboring gene uncharacterized LOC105372633 Neighboring gene zinc finger protein 663, pseudogene Neighboring gene makorin ring finger protein 7, pseudogene Neighboring gene zinc finger protein 334

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

Homology

Clone Names

  • FLJ11656, KIAA1834

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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)

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_001318253.2NP_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/Swiss-Prot
    Q96JJ3
    Related
    ENSP00000361249.1, ENST00000372176.5
    Conserved Domains (3) summary
    cd13359
    Location:451580
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:208381
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:27183
    DUF3361; Domain of unknown function (DUF3361)
  2. NM_133171.5NP_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
    Q96JJ3
    Related
    ENSP00000290246.6, ENST00000290246.11
    Conserved Domains (3) summary
    cd13359
    Location:539668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:296469
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115271
    DUF3361; Domain of unknown function (DUF3361)
  3. NM_182764.2NP_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, CA444293, DA224400
    Consensus CDS
    CCDS13398.1
    UniProtKB/Swiss-Prot
    Q96JJ3
    Related
    ENSP00000379673.1, ENST00000396391.5
    Conserved Domains (3) summary
    cd13359
    Location:539668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:296469
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115271
    DUF3361; Domain of unknown function (DUF3361)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    46366045..46407051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260499.3XP_005260556.1  engulfment and cell motility protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005260556.1

    UniProtKB/Swiss-Prot
    Q96JJ3
    Conserved Domains (3) summary
    cd13359
    Location:451580
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:208381
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:27183
    DUF3361; Domain of unknown function (DUF3361)
  2. XM_017028009.1XP_016883498.1  engulfment and cell motility protein 2 isoform X3

    Conserved Domains (3) summary
    cd13359
    Location:356485
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:113286
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:388
    DUF3361; Domain of unknown function (DUF3361)
  3. XM_017028011.1XP_016883500.1  engulfment and cell motility protein 2 isoform X3

    Conserved Domains (3) summary
    cd13359
    Location:356485
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:113286
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:388
    DUF3361; Domain of unknown function (DUF3361)
  4. XM_005260498.3XP_005260555.1  engulfment and cell motility protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005260555.1

    UniProtKB/Swiss-Prot
    Q96JJ3
    Conserved Domains (3) summary
    cd13359
    Location:451580
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:208381
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:27183
    DUF3361; Domain of unknown function (DUF3361)
  5. XM_005260496.3XP_005260553.1  engulfment and cell motility protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005260553.1

    UniProtKB/Swiss-Prot
    Q96JJ3
    Conserved Domains (3) summary
    cd13359
    Location:539668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:296469
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115271
    DUF3361; Domain of unknown function (DUF3361)
  6. XM_005260500.3XP_005260557.1  engulfment and cell motility protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005260557.1

    UniProtKB/Swiss-Prot
    Q96JJ3
    Conserved Domains (3) summary
    cd13359
    Location:451580
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:208381
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:27183
    DUF3361; Domain of unknown function (DUF3361)
  7. XM_006723854.3XP_006723917.1  engulfment and cell motility protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006723917.1

    UniProtKB/Swiss-Prot
    Q96JJ3
    Related
    ENSP00000326172.4, ENST00000352077.6
    Conserved Domains (3) summary
    cd13359
    Location:539668
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:296469
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:115271
    DUF3361; Domain of unknown function (DUF3361)
  8. XM_017028010.1XP_016883499.1  engulfment and cell motility protein 2 isoform X3

    Conserved Domains (3) summary
    cd13359
    Location:356485
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:113286
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:388
    DUF3361; Domain of unknown function (DUF3361)
  9. XM_005260501.5XP_005260558.1  engulfment and cell motility protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005260558.1

    Conserved Domains (3) summary
    cd13359
    Location:356485
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:113286
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:388
    DUF3361; Domain of unknown function (DUF3361)
  10. XM_024451961.1XP_024307729.1  engulfment and cell motility protein 2 isoform X3

    Conserved Domains (3) summary
    cd13359
    Location:356485
    PH_ELMO1_CED-12; Engulfment and cell motility protein 1 pleckstrin homology (PH) domain
    pfam04727
    Location:113286
    ELMO_CED12; ELMO/CED-12 family
    pfam11841
    Location:388
    DUF3361; Domain of unknown function (DUF3361)

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.
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