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EGLN2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
EGLN2
Identifiers
AliasesEGLN2, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1, egl-9 family hypoxia inducible factor 2, EIT-6
External IDsOMIM:606424;MGI:1932287;HomoloGene:14204;GeneCards:EGLN2;OMA:EGLN2 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for EGLN2
Genomic location for EGLN2
Band19q13.2Start40,798,996bp[1]
End40,808,434bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for EGLN2
Genomic location for EGLN2
Band7 A3|7 15.83 cMStart26,858,083bp[2]
End26,866,227bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left testis

  • right testis

  • blood

  • spleen

  • right lung

  • apex of heart

  • upper lobe of left lung

  • mucosa of transverse colon

  • primary visual cortex

  • putamen
Top expressed in
  • seminiferous tubule

  • entorhinal cortex

  • Ileal epithelium

  • perirhinal cortex

  • choroid plexus of fourth ventricle

  • CA3 field

  • spermatid

  • muscle of thigh

  • Paneth cell

  • crypt of lieberkuhn of small intestine
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

112398

112406

Ensembl

ENSG00000269858

ENSMUSG00000058709

UniProt

Q96KS0

Q91YE2

RefSeq (mRNA)

NM_080732
NM_017555
NM_053046

NM_053208
NM_001357767

RefSeq (protein)

NP_444274
NP_542770

NP_444438
NP_001344696

Location (UCSC)Chr 19: 40.8 – 40.81 MbChr 7: 26.86 – 26.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Egl nine homolog 2 is aprotein that in humans is encoded by theEGLN2gene.[5] ELGN2 is analpha-ketoglutarate-dependent hydroxylase, a superfamily of non-haem iron-containing proteins.

Thehypoxia inducible factor (HIF) is a transcriptional complex which is involved inoxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degradation byprolyl hydroxylation. This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000269858Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000058709Ensembl, 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. ^ab"Entrez Gene: EGLN2 egl nine homolog 2 (C. elegans)".

Further reading

[edit]
1.14.11:2-oxoglutarate
1.14.13:NADH orNADPH
1.14.14: reducedflavin orflavoprotein
1.14.15: reducediron–sulfur protein
1.14.16: reducedpteridine (BH4 dependent)
1.14.17: reducedascorbate
1.14.18-19: other
1.14.99 - miscellaneous
Activity
Regulation
Classification
Kinetics
Types
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