DIAPH2

DIAPH2
Identifiers
Aliases	DIAPH2 , DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A
External IDs	OMIM: 300108 HomoloGene: 136807 GeneCards: DIAPH2
Gene location (Human)
Chr.	X chromosome (human)
End	97,604,997 bp
RNA expression pattern
	Top expressed in
	parietal pleura; ; bronchial epithelial cell; ; lower lobe of lung; ; visceral pleura; ; hair follicle; ; Achilles tendon; ; placenta; ; sperm; ; parotid gland; ; vastus lateralis muscle;
	n/a
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	actin binding ; signaling receptor binding ;
Cellular component	cytoplasm ; cytosol ; endosome ; early endosome ; nucleolus ; intracellular membrane-bounded organelle ; endoplasmic reticulum ;
Biological process	multicellular organism development ; cell differentiation ; female gamete generation ; actin cytoskeleton organization ; actin filament organization ; oogenesis ; cellular component organization ;
	Sources:Amigo / QuickGO
Orthologs
	1730
	n/a
	ENSG00000147202
	n/a
	O60879
	n/a
	NM_007309 ; NM_006729
	n/a
	NP_006720 ; NP_009293
	n/a
	Wikidata
View/Edit Human

Last updated August 01, 2023

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

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]

Related Research Articles

Formins (formin homology proteins) are a group of proteins that are involved in the polymerization of actin and associate with the fast-growing end (barbed end) of actin filaments. Most formins are Rho-GTPase effector proteins. Formins regulate the actin and microtubule cytoskeleton and are involved in various cellular functions such as cell polarity, cytokinesis, cell migration and SRF transcriptional activity. Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins, although some formins have been assigned functions within the nucleus.

RhoC is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOC.

Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.

FH1/FH2 domain-containing protein 1 is a protein that in humans is encoded by the FHOD1 gene.

Large tumor suppressor kinase 1 (LATS1) is an enzyme that in humans is encoded by the LATS1 gene.

Segment polarity protein dishevelled homolog DVL-2 is a protein that in humans is encoded by the DVL2 gene.

Kinesin-associated protein 3 (KAP3) is a protein that in humans is encoded by the KIFAP3 gene. It is a non-motor, accessory subunit which co-oligomerizes with the motor subunits KIF3A and KIF3B or KIF3C, to form heterotrimeric kinesin-2 motor proteins. Kinesin-2 KAP subunits were initially characterized in echinoderms and mice.

Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene.

VPS29 is a human gene coding for the vacuolar protein sorting protein Vps29, a component of the retromer complex.

RhoD is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOD.

Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.

Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.

Partitioning defective 6 homolog beta is a protein that in humans is encoded by the PARD6B gene.

Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene. Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined.

Formin-like protein 2 is a protein that in humans is encoded by the FMNL2 gene.

Rabenosyn-5 is a protein that in humans is encoded by the ZFYVE20 gene.

mDia1 is a member of the protein family called the formins and is a Rho effector. It is the mouse version of the diaphanous homolog 1 of Drosophila. mDia1 localizes to cells' mitotic spindle and midbody, plays a role in stress fiber and filopodia formation, phagocytosis, activation of serum response factor, formation of adherens junctions, and it can act as a transcription factor. mDia1 accelerates actin nucleation and elongation by interacting with barbed ends of actin filaments. The gene encoding mDia1 is located on Chromosome 18 of Mus musculus and named Diap1.

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.

Dachshund homolog 2 is a protein that in humans is encoded by the DACH2 gene.

References

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

Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (1993). "Physical mapping of DNA markers in the q13-q22 region of the human X chromosome". Genomics. 17 (1): 147–52. doi:10.1006/geno.1993.1296. PMID 8406446.
Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D (1997). "Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21". Genomics. 40 (1): 123–31. doi:10.1006/geno.1996.4542. PMID 9070928.
Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D (1998). "A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility". Am. J. Hum. Genet. 62 (3): 533–41. doi:10.1086/301761. PMC 1376955 . PMID 9497258.
Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L (2000). "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure". Hum. Genet. 107 (4): 304–11. doi:10.1007/s004390000364. PMID 11129329. S2CID 11101985.
Satoh S, Tominaga T (2001). "mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation". J. Biol. Chem. 276 (42): 39290–4. doi: 10.1074/jbc.M107026200 . PMID 11509578.
Sabatino L, Chopra IJ, Tanavoli S, Iacconi P, Iervasi G (2001). "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues". Thyroid. 11 (8): 733–9. doi:10.1089/10507250152484565. PMID 11525265.
Gasman S, Kalaidzidis Y, Zerial M (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.
"Retraction. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis". Nat. Cell Biol. 5 (7): 680. 2003. doi: 10.1038/ncb0703-680a . PMID 12833069.
Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S (2004). "Cdc42 and mDia3 regulate microtubule attachment to kinetochores". Nature. 428 (6984): 767–71. Bibcode:2004Natur.428..767Y. doi:10.1038/nature02452. PMID 15085137. S2CID 4401953.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID 17081983.
Wallar BJ, Deward AD, Resau JH, Alberts AS (2007). "RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking". Exp. Cell Res. 313 (3): 560–71. doi:10.1016/j.yexcr.2006.10.033. PMID 17198702.
Eisenmann KM, Harris ES, Kitchen SM, Holman HA, Higgs HN, Alberts AS (2007). "Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex". Curr. Biol. 17 (7): 579–91. doi: 10.1016/j.cub.2007.03.024 . PMID 17398099.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000147202 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9360932-3] 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.

[entrez-4] 1 2 "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".

[pmid12577064-5] 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.

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DIAPH2

Contents

Function

Interactions

Related Research Articles

References

Further reading