DIAPH2

Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[3][4]

DIAPH2
Identifiers
AliasesDIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A
External IDsOMIM: 300108 HomoloGene: 136807 GeneCards: DIAPH2
Orthologs
SpeciesHumanMouse
Entrez

1730

n/a

Ensembl

ENSG00000147202

n/a

UniProt

O60879

n/a

RefSeq (mRNA)

NM_007309
NM_006729

n/a

RefSeq (protein)

NP_006720
NP_009293

n/a

Location (UCSC)Chr X: 96.68 – 97.6 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Function

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.[4]

Interactions

DIAPH2 has been shown to interact with RhoD.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000147202 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 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.
  4. "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".
  5. 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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