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

    Gene ID: 255520, updated on 23-Nov-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See ELMOD2 in Genome Data Viewer
    Location:
    4q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (140524146..140553770)
    105.20201022 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 MGAT4 family member D Neighboring gene uncoupling protein 1 Neighboring gene RNA, 7SL, cytoplasmic 152, 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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association with select biomarker traits in the Framingham Heart Study.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 positive regulation of GTPase activity 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

    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_153702.4NP_714913.1  ELMO domain-containing protein 2

      See identical proteins and their annotated locations for NP_714913.1

      Status: REVIEWED

      Source sequence(s)
      AC093671, AK312800, BX648349, BX648843
      Consensus CDS
      CCDS3752.1
      UniProtKB/Swiss-Prot
      Q8IZ81
      Related
      ENSP00000326342.3, ENST00000323570.8
      Conserved Domains (1) summary
      pfam04727
      Location:112265
      ELMO_CED12; ELMO/CED-12 family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      140524146..140553770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262885.3XP_005262942.1  ELMO domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      pfam04727
      Location:124277
      ELMO_CED12; ELMO/CED-12 family
    2. XM_011531819.2XP_011530121.1  ELMO domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011530121.1

      UniProtKB/Swiss-Prot
      Q8IZ81
      Conserved Domains (1) summary
      pfam04727
      Location:112265
      ELMO_CED12; ELMO/CED-12 family
    3. XM_005262886.2XP_005262943.1  ELMO domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_005262943.1

      UniProtKB/Swiss-Prot
      Q8IZ81
      Conserved Domains (1) summary
      pfam04727
      Location:112265
      ELMO_CED12; ELMO/CED-12 family
    4. XM_011531818.2XP_011530120.1  ELMO domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam04727
      Location:124257
      ELMO_CED12; ELMO/CED-12 family

    RNA

    1. XR_001741193.1 RNA Sequence

    2. XR_938716.2 RNA Sequence

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