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DIAPH2

From Wikipedia, the free encyclopedia

DIAPH2
Identifiers
AliasesDIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A
External IDsOMIM: 300108; MGI: 1858500; HomoloGene: 136807; GeneCards: DIAPH2; OMA:DIAPH2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007309
NM_006729

NM_017398
NM_172493

RefSeq (protein)

NP_006720
NP_009293

NP_766081

Location (UCSC)Chr X: 96.68 – 97.6 MbChr X: 128.65 – 129.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[5][6]

Function

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This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms.[6]

Interactions

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DIAPH2 has been shown to interact with RhoD.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147202Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034480Ensembl, 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. ^ Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. Bibcode:1997Sci...278.1315L. doi:10.1126/science.278.5341.1315. PMID 9360932.
  6. ^ a b "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".
  7. ^ Gasman S, Kalaidzidis Y, Zerial M (Mar 2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204. doi:10.1038/ncb935. PMID 12577064. S2CID 17891748.

Further reading

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