DIAPH2

DIAPH2

Identifiers

DIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A

External IDs

OMIM: 300108; MGI: 1858500; HomoloGene: 136807; GeneCards: DIAPH2; OMA:DIAPH2 - orthologs

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq21.33	Start	96,684,712 bp^[1]
Band	Xq21.33	End	97,604,997 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X E3	Start	128,650,491 bp^[2]
Band	X\|X E3	End	129,366,583 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

Top expressed in

olfactory tubercle

ascending aorta

iris

nucleus accumbens

aortic valve

left lung lobe

carotid body

epithelium of stomach

seminal vesicula

sciatic nerve

More reference expression data

BioGPS


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

Species

Human

Mouse

Entrez


1730


54004

Ensembl


ENSG00000147202


ENSMUSG00000034480

UniProt


O60879


O70566

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 Mb

Chr X: 128.65 – 129.37 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

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Transcription

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.^[6]

Interactions

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147202 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034480 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse 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.
^ ^a ^b "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. Bibcode:2007CBio...17..579E. doi:10.1016/j.cub.2007.03.024. PMID 17398099.

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This page was last edited on 28 March 2024, at 08:45

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Transcription

Function

Interactions

References

Further reading