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    ELMOD2 ELMO domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 255520, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ELMOD2provided by HGNC
    Official Full Name
    ELMO domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28111
    See related
    Ensembl:ENSG00000179387 MIM:610196; AllianceGenome:HGNC:28111
    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
    9830169G11Rik
    Summary
    This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.2), adrenal (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELMOD2 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (140524168..140553770)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (143843841..143873475)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141445322..141474924)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene calmegin Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:141334799-141335364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21935 Neighboring gene MGAT4 family member D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141418967-141419468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:141419469-141419968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15711 Neighboring gene uncoupling protein 1 Neighboring gene RNA, 7SL, cytoplasmic 152, 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. ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Hodgson U, et al. Am J Hum Genet, 2006 Jul. PMID 16773575, Free PMC Article
    2. ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses. Pulkkinen V, et al. FASEB J, 2010 Apr. PMID 19966137
    3. ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2. Schiavon CR, et al. Mol Biol Cell, 2019 May 1. PMID 30865555, Free PMC Article
    4. Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. Ivanova AA, et al. J Biol Chem, 2014 Apr 18. PMID 24616099, Free PMC Article
    5. ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs. Bowzard JB, et al. J Biol Chem, 2007 Jun 15. PMID 17452337

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results suggest that ELMOD2 is functioning as an effector downstream of ARL2 and upstream of the mitofusins to promote mitochondrial fusion. Data provide insights into the pathway by which mitochondrial fusion is regulated in the cell.
      Title: ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2.
    2. The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity.
      Title: Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.
    3. TLR3 pathway is dependent on ELMOD2
      Title: ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses.
    4. Results describe the purification from bovine testis of an Arl2 GAP and its identity as ELMOD2, a protein with no previously described function.
      Title: ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs.
    5. results suggest ELMOD2 as a novel candidate gene for susceptibility in familial idiopathic pulmonary fibrosis
      Title: ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    EBI GWAS Catalog

    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

    • FLJ35768, FLJ38038, MGC10084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    ELMO domain-containing protein 2
    Names
    ELMO/CED-12 domain containing 2

    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_027825.1 RefSeqGene

      Range
      5011..34613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153702.4 → NP_714913.1  ELMO domain-containing protein 2

      Status: REVIEWED

      Source sequence(s)
      AC093671, AK312800, BX648349, BX648843
      Consensus CDS
      CCDS3752.1
      UniProtKB/Swiss-Prot
      B2R712, D3DNZ0, Q8IZ81
      Related
      ENSP00000326342.3, ENST00000323570.8
      Conserved Domains (1) summary
      pfam04727
      Location:112 → 265
      ELMO_CED12; ELMO/CED-12 family

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      140524168..140553770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262885.4 → XP_005262942.1  ELMO domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      pfam04727
      Location:124 → 277
      ELMO_CED12; ELMO/CED-12 family

    2. XM_011531819.3 → XP_011530121.1  ELMO domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R712, D3DNZ0, Q8IZ81
      Conserved Domains (1) summary
      pfam04727
      Location:112 → 265
      ELMO_CED12; ELMO/CED-12 family

    3. XM_011531818.3 → XP_011530120.1  ELMO domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam04727
      Location:124 → 257
      ELMO_CED12; ELMO/CED-12 family

    4. XM_047449980.1 → XP_047305936.1  ELMO domain-containing protein 2 isoform X4

    5. XM_047449981.1 → XP_047305937.1  ELMO domain-containing protein 2 isoform X5

    RNA

    1. XR_001741193.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      143843841..143873475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349542.1 → XP_054205517.1  ELMO domain-containing protein 2 isoform X3

      UniProtKB/Swiss-Prot
      B2R712, D3DNZ0, Q8IZ81

    2. XM_054349541.1 → XP_054205516.1  ELMO domain-containing protein 2 isoform X2

    3. XM_054349543.1 → XP_054205518.1  ELMO domain-containing protein 2 isoform X4

    4. XM_054349540.1 → XP_054205515.1  ELMO domain-containing protein 2 isoform X1

    5. XM_054349544.1 → XP_054205519.1  ELMO domain-containing protein 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ81.1 GenPept UniProtKB/Swiss-Prot:Q8IZ81

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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