Elmo domain containing 2

Protein-coding gene in the species Homo sapiens
ELMOD2
Identifiers
AliasesELMOD2, 9830169G11Rik, ELMO domain containing 2
External IDsOMIM: 610196; MGI: 2445165; HomoloGene: 16662; GeneCards: ELMOD2; OMA:ELMOD2 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for ELMOD2
Genomic location for ELMOD2
Band4q31.1Start140,524,168 bp[1]
End140,553,770 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for ELMOD2
Genomic location for ELMOD2
Band8|8 C2Start84,039,261 bp[2]
End84,059,115 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • mucosa of ileum

  • renal medulla

  • lateral nuclear group of thalamus

  • spinal ganglia

  • cardia

  • trigeminal ganglion

  • mucosa of paranasal sinus

  • jejunal mucosa

  • nasal epithelium
Top expressed in
  • primary oocyte

  • otic vesicle

  • secondary oocyte

  • zygote

  • otolith organ

  • utricle

  • Epithelium of choroid plexus

  • hand

  • retinal pigment epithelium

  • medullary collecting duct
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • GTPase activator activity
Cellular component
  • membrane
Biological process
  • defense response to virus
  • regulation of defense response to virus
  • positive regulation of GTPase activity
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

255520

244548

Ensembl

ENSG00000179387

ENSMUSG00000035151

UniProt

Q8IZ81

Q8BGF6

RefSeq (mRNA)

NM_153702

NM_001170691
NM_178736

RefSeq (protein)

NP_714913

NP_001164162
NP_848851

Location (UCSC)Chr 4: 140.52 – 140.55 MbChr 8: 84.04 – 84.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ELMO domain containing 2 is a protein that in humans is encoded by the ELMOD2 gene. [5]

Function

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179387 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035151 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: ELMO domain containing 2". Retrieved 2016-08-29.

Further reading

  • Hodgson U, Pulkkinen V, Dixon M, Peyrard-Janvid M, Rehn M, Lahermo P, Ollikainen V, Salmenkivi K, Kinnula V, Kere J, Tukiainen P, Laitinen T (2006). "ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis". Am. J. Hum. Genet. 79 (1): 149–54. doi:10.1086/504639. PMC 1474126. PMID 16773575.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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