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

Gene ID: 255520, updated on 24-Nov-2020

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

Genomic context

See ELMOD2 in Genome Data Viewer
Location:
4q31.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (140524146..140553770)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (141445312..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
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
membrane HDA PubMed 

General protein information

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

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_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 109.20201120

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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