MAB21L4
Identifiers
AliasesMAB21L4, chromosome 2 open reading frame 54, mab-21 like 4, C2orf54
External IDsMGI: 1919124 HomoloGene: 11761 GeneCards: MAB21L4
Orthologs
SpeciesHumanMouse
Entrez

79919

71874

Ensembl

ENSG00000172478

ENSMUSG00000034159

UniProt

Q08AI8

Q8CEZ4

RefSeq (mRNA)

NM_001085437
NM_001282921
NM_024861

NM_001159940
NM_172411

RefSeq (protein)

NP_001078906
NP_001269850
NP_079137

NP_001153412
NP_765999

Location (UCSC)Chr 2: 240.89 – 240.9 MbChr 1: 93.08 – 93.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 2 open reading frame 54, otherwise known as Mab21L4, is a protein that in humans is encoded by the C2orf54 gene.[5] The orthologue in mice is 2310007B03Rik.[5]

Model organisms

Model organisms have been used in the study of C2orf54 function. A conditional knockout mouse line, called 2310007B03Riktm1a(KOMP)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172478 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034159 - 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. 1 2 "Chromosome 2 open reading frame 54". Retrieved 2011-12-11.
  6. ↑ "Salmonella infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.
  7. ↑ "Citrobacter infection data for 2310007B03Rik". Wellcome Trust Sanger Institute.
  8. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  9. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ↑ "International Knockout Mouse Consortium".
  11. ↑ "Mouse Genome Informatics".
  12. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  15. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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