O60879 (DIAP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein diaphanous homolog 2

Alternative name(s):
Diaphanous-related formin-2
Short name=DRF2

Gene names

Name:	DIAPH2
Synonyms:	DIA

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1101 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton. Ref.2
Subunit structure	Isoform 3 interacts with RHOD in the GTP-bound form. Ref.2
Subcellular location	Isoform 3: Cytoplasm › cytosol. Early endosome. Note: Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes. Ref.2
Tissue specificity	Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.
Developmental stage	Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian follicles.
Domain	DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction By similarity.
Involvement in disease	Defects in DIAPH2 are the cause of premature ovarian failure type 2A (POF2A) [MIM:300511]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. Ref.1
Sequence similarities	Belongs to the formin homology family. Diaphanous subfamily. Contains 1 DAD (diaphanous autoregulatory) domain. Contains 1 FH1 (formin homology 1) domain. Contains 1 FH2 (formin homology 2) domain. Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.

Ontologies

Keywords
Biological process	Differentiation Oogenesis
Cellular component	Cytoplasm Endosome
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Premature ovarian failure
Domain	Coiled coil Repeat
Molecular function	Developmental protein
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cytokinesis Traceable author statement. Source: ProtInc multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW oogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi apparatus Inferred from direct assay. Source: HPA cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell early endosome Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA
Molecular function	Rho GTPase binding Inferred from electronic annotation. Source: InterPro receptor binding Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O60879-1)

Also known as: DIA-156;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O60879-2)

Also known as: DIA-12C; DIA2B;

The sequence of this isoform differs from the canonical sequence as follows:
     1081-1101: DNRRVPLERSRSRHNGAISSK → VVNHPCATRANPRSAT

Isoform 3 (identifier: O60879-3)

Also known as: DIA2C;

The sequence of this isoform differs from the canonical sequence as follows:
     45-55: Missing.
     149-149: S → SIVGSKVT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1101	1101	Protein diaphanous homolog 2		PRO_0000194895
Regions
	Domain	98 – 464	367	GBD/FH3
	Domain	549 – 623	75	FH1
	Domain	628 – 1028	401	FH2
	Domain	1051 – 1081	31	DAD
	Coiled coil	366 – 418	53	Potential
	Coiled coil	487 – 547	61	Potential
	Coiled coil	903 – 1053	151	Potential
	Compositional bias	257 – 260	4	Poly-Leu
	Compositional bias	543 – 546	4	Poly-Ser
	Compositional bias	562 – 572	11	Poly-Pro
	Compositional bias	576 – 585	10	Poly-Pro
	Compositional bias	591 – 597	7	Poly-Pro
	Compositional bias	603 – 608	6	Poly-Pro
	Compositional bias	613 – 616	4	Poly-Pro
	Compositional bias	1038 – 1041	4	Poly-Lys
	Compositional bias	1072 – 1075	4	Arg/Lys-rich (basic)
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.6
	Modified residue	632	1	Phosphotyrosine Ref.5
Natural variations
	Alternative sequence	45 – 55	11	Missing in isoform 3.		VSP_012955
	Alternative sequence	149	1	S → SIVGSKVT in isoform 3.		VSP_012956
	Alternative sequence	1081 – 1101	21	DNRRV…AISSK → VVNHPCATRANPRSAT in isoform 2.		VSP_001573
	Natural variant	425	1	F → L. Corresponds to variant rs20361 [ dbSNP | Ensembl ].		VAR_049095
	Natural variant	426	1	L → V. Corresponds to variant rs20361 [ dbSNP | Ensembl ].		VAR_049096

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (DIA-156) [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 399F1C292D79188B	FASTA	1,101	125,569
	10 20 30 40 50 60 MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLNIQIKT LADDVRDRIT 70 80 90 100 110 120 SFRKSTVKKE KPLIQHPIDS QVAMSEFPAA QPLYDERSLN LSEKEVLDLF EKMMEDMNLN 130 140 150 160 170 180 EEKKAPLRNK DFTTKREMVV QYISATAKSG GLKNSKHECT LSSQEYVHEL RSGISDEKLL 190 200 210 220 230 240 NCLESLRVSL TSNPVSWVNN FGHEGLGLLL DELEKLLDKK QQENIDKKNQ YKLIQCLKAF 250 260 270 280 290 300 MNNKFGLQRI LGDERSLLLL ARAIDPKQPN MMTEIVKILS AICIVGEENI LDKLLGAITT 310 320 330 340 350 360 AAERNNRERF SPIVEGLENQ EALQLQVACM QFINALVTSP YELDFRIHLR NEFLRSGLKT 370 380 390 400 410 420 MLPDLKEKEN DELDIQLKVF DENKEDDLTE LSHRLNDIRA EMDDMNEVYH LLYNMLKDTA 430 440 450 460 470 480 AENYFLSILQ HFLLIRNDYY IRPQYYKIIE ECVSQIVLHC SGMDPDFKYR QRLDIDLTHL 490 500 510 520 530 540 IDSCVNKAKV EESEQKAAEF SKKFDEEFTA RQEAQAELQK RDEKIKELEA EIQQLRTQAQ 550 560 570 580 590 600 VLSSSSGIPG PPAAPPLPGV GPPPPPPAPP LPGGAPLPPP PPPLPGMMGI PPPPPPPLLF 610 620 630 640 650 660 GGPPPPPPLG GVPPPPGISL NLPYGMKQKK MYKPEVSMKR INWSKIEPTE LSENCFWLRV 670 680 690 700 710 720 KEDKFENPDL FAKLALNFAT QIKVQKNAEA LEEKKTGPTK KKVKELRILD PKTAQNLSIF 730 740 750 760 770 780 LGSYRMPYED IRNVILEVNE DMLSEALIQN LVKHLPEQKI LNELAELKNE YDDLCEPEQF 790 800 810 820 830 840 GVVMSSVKML QPRLSSILFK LTFEEHINNI KPSIIAVTLA CEELKKSESF NRLLELVLLV 850 860 870 880 890 900 GNYMNSGSRN AQSLGFKINF LCKIRDTKSA DQKTTLLHFI ADICEEKYRD ILKFPEELEH 910 920 930 940 950 960 VESASKVSAQ ILKSNLASME QQIVHLERDI KKFPQAENQH DKFVEKMTSF TKTAREQYEK 970 980 990 1000 1010 1020 LSTMHNNMMK LYENLGEYFI FDSKTVSIEE FFGDLNNFRT LFLEAVRENN KRREMEEKTR 1030 1040 1050 1060 1070 1080 RAKLAKEKAE QEKLERQKKK KQLIDINKEG DETGVMDNLL EALQSGAAFR DRRKRIPRNP 1090 1100 DNRRVPLERS RSRHNGAISS K
	Isoform 2 (DIA-12C) (DIA2B) [UniParc]. Checksum: D43A61A84A4B937F	FASTA	1,096	124,827
	10 20 30 40 50 60 MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLNIQIKT LADDVRDRIT 70 80 90 100 110 120 SFRKSTVKKE KPLIQHPIDS QVAMSEFPAA QPLYDERSLN LSEKEVLDLF EKMMEDMNLN 130 140 150 160 170 180 EEKKAPLRNK DFTTKREMVV QYISATAKSG GLKNSKHECT LSSQEYVHEL RSGISDEKLL 190 200 210 220 230 240 NCLESLRVSL TSNPVSWVNN FGHEGLGLLL DELEKLLDKK QQENIDKKNQ YKLIQCLKAF 250 260 270 280 290 300 MNNKFGLQRI LGDERSLLLL ARAIDPKQPN MMTEIVKILS AICIVGEENI LDKLLGAITT 310 320 330 340 350 360 AAERNNRERF SPIVEGLENQ EALQLQVACM QFINALVTSP YELDFRIHLR NEFLRSGLKT 370 380 390 400 410 420 MLPDLKEKEN DELDIQLKVF DENKEDDLTE LSHRLNDIRA EMDDMNEVYH LLYNMLKDTA 430 440 450 460 470 480 AENYFLSILQ HFLLIRNDYY IRPQYYKIIE ECVSQIVLHC SGMDPDFKYR QRLDIDLTHL 490 500 510 520 530 540 IDSCVNKAKV EESEQKAAEF SKKFDEEFTA RQEAQAELQK RDEKIKELEA EIQQLRTQAQ 550 560 570 580 590 600 VLSSSSGIPG PPAAPPLPGV GPPPPPPAPP LPGGAPLPPP PPPLPGMMGI PPPPPPPLLF 610 620 630 640 650 660 GGPPPPPPLG GVPPPPGISL NLPYGMKQKK MYKPEVSMKR INWSKIEPTE LSENCFWLRV 670 680 690 700 710 720 KEDKFENPDL FAKLALNFAT QIKVQKNAEA LEEKKTGPTK KKVKELRILD PKTAQNLSIF 730 740 750 760 770 780 LGSYRMPYED IRNVILEVNE DMLSEALIQN LVKHLPEQKI LNELAELKNE YDDLCEPEQF 790 800 810 820 830 840 GVVMSSVKML QPRLSSILFK LTFEEHINNI KPSIIAVTLA CEELKKSESF NRLLELVLLV 850 860 870 880 890 900 GNYMNSGSRN AQSLGFKINF LCKIRDTKSA DQKTTLLHFI ADICEEKYRD ILKFPEELEH 910 920 930 940 950 960 VESASKVSAQ ILKSNLASME QQIVHLERDI KKFPQAENQH DKFVEKMTSF TKTAREQYEK 970 980 990 1000 1010 1020 LSTMHNNMMK LYENLGEYFI FDSKTVSIEE FFGDLNNFRT LFLEAVRENN KRREMEEKTR 1030 1040 1050 1060 1070 1080 RAKLAKEKAE QEKLERQKKK KQLIDINKEG DETGVMDNLL EALQSGAAFR DRRKRIPRNP 1090 VVNHPCATRA NPRSAT
	Isoform 3 (DIA2C) [UniParc]. Checksum: EE15E9AC8C949229	FASTA	1,097	125,043
	10 20 30 40 50 60 MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLRDRITS FRKSTVKKEK 70 80 90 100 110 120 PLIQHPIDSQ VAMSEFPAAQ PLYDERSLNL SEKEVLDLFE KMMEDMNLNE EKKAPLRNKD 130 140 150 160 170 180 FTTKREMVVQ YISATAKSIV GSKVTGGLKN SKHECTLSSQ EYVHELRSGI SDEKLLNCLE 190 200 210 220 230 240 SLRVSLTSNP VSWVNNFGHE GLGLLLDELE KLLDKKQQEN IDKKNQYKLI QCLKAFMNNK 250 260 270 280 290 300 FGLQRILGDE RSLLLLARAI DPKQPNMMTE IVKILSAICI VGEENILDKL LGAITTAAER 310 320 330 340 350 360 NNRERFSPIV EGLENQEALQ LQVACMQFIN ALVTSPYELD FRIHLRNEFL RSGLKTMLPD 370 380 390 400 410 420 LKEKENDELD IQLKVFDENK EDDLTELSHR LNDIRAEMDD MNEVYHLLYN MLKDTAAENY 430 440 450 460 470 480 FLSILQHFLL IRNDYYIRPQ YYKIIEECVS QIVLHCSGMD PDFKYRQRLD IDLTHLIDSC 490 500 510 520 530 540 VNKAKVEESE QKAAEFSKKF DEEFTARQEA QAELQKRDEK IKELEAEIQQ LRTQAQVLSS 550 560 570 580 590 600 SSGIPGPPAA PPLPGVGPPP PPPAPPLPGG APLPPPPPPL PGMMGIPPPP PPPLLFGGPP 610 620 630 640 650 660 PPPPLGGVPP PPGISLNLPY GMKQKKMYKP EVSMKRINWS KIEPTELSEN CFWLRVKEDK 670 680 690 700 710 720 FENPDLFAKL ALNFATQIKV QKNAEALEEK KTGPTKKKVK ELRILDPKTA QNLSIFLGSY 730 740 750 760 770 780 RMPYEDIRNV ILEVNEDMLS EALIQNLVKH LPEQKILNEL AELKNEYDDL CEPEQFGVVM 790 800 810 820 830 840 SSVKMLQPRL SSILFKLTFE EHINNIKPSI IAVTLACEEL KKSESFNRLL ELVLLVGNYM 850 860 870 880 890 900 NSGSRNAQSL GFKINFLCKI RDTKSADQKT TLLHFIADIC EEKYRDILKF PEELEHVESA 910 920 930 940 950 960 SKVSAQILKS NLASMEQQIV HLERDIKKFP QAENQHDKFV EKMTSFTKTA REQYEKLSTM 970 980 990 1000 1010 1020 HNNMMKLYEN LGEYFIFDSK TVSIEEFFGD LNNFRTLFLE AVRENNKRRE MEEKTRRAKL 1030 1040 1050 1060 1070 1080 AKEKAEQEKL ERQKKKKQLI DINKEGDETG VMDNLLEALQ SGAAFRDRRK RIPRNPDNRR 1090 VPLERSRSRH NGAISSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Bione S., Sala C., Manzini C., Arrigo G., Zuffardi O., Banfi S., Borsani G., Jonveaux P., Philippe C., Zuccotti M., Ballabio A., Toniolo D. Am. J. Hum. Genet. 62:533-541(1998) [PubMed: 9497258] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, INVOLVEMENT IN POF2A.
[2]	"RhoD regulates endosome dynamics through diaphanous-related formin and Src tyrosine kinase." Gasman S., Kalaidzidis Y., Zerial M. Nat. Cell Biol. 5:195-204(2003) [PubMed: 12577064] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 3), INTERACTION WITH RHOD, SUBCELLULAR LOCATION, FUNCTION.
[3]	Erratum Gasman S., Kalaidzidis Y., Zerial M. Nat. Cell Biol. 5:680-680(2003)
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-632, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y15909 mRNA. Translation: CAA75870.1. Y15908 mRNA. Translation: CAA75869.1. AL139809 , AL031053, AL161624, AL391821, AL592157, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI39928.1. AL161624 , AL031053, AL139809, AL391821, AL592157, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI40915.1. AL592157 , AL031053, AL139809, AL161624, AL391821, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI40544.1. AL606530 , AL031053, AL139809, AL161624, AL391821, AL592157, AL669876, Z86061 Genomic DNA. Translation: CAI39841.1. Z86061 , AL031053, AL139809, AL161624, AL391821, AL592157, AL606530, AL669876 Genomic DNA. Translation: CAI42257.1. AL031053 , AL139809, AL161624, AL391821, AL592157, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI42515.1. AL669876 , AL031053, AL139809, AL161624, AL391821, AL592157, AL606530, Z86061 Genomic DNA. Translation: CAH71113.1. AL669876 , AL031053, AL139809, AL161624, AL592157, AL606530, Z86061 Genomic DNA. Translation: CAH71114.1. AL391821 , AL031053, AL139809, AL161624, AL592157, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAH71361.1. AL592157 , AL031053, AL139809, AL161624, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI40545.1. AL606530 , AL031053, AL139809, AL161624, AL592157, AL669876, Z86061 Genomic DNA. Translation: CAI39842.1. Z86061 , AL031053, AL139809, AL161624, AL592157, AL606530, AL669876 Genomic DNA. Translation: CAI42258.1. AL161624 , AL031053, AL139809, AL592157, AL606530, AL669876, Z86061 Genomic DNA. Translation: CAI40916.1. AL031053 Genomic DNA. Translation: CAB39108.2. AL139809 Genomic DNA. Translation: CAD13477.2.
IPI	IPI00514075. IPI00844086. IPI01015143.
RefSeq	NP_006720.1. NM_006729.4. NP_009293.1. NM_007309.3.
UniGene	Hs.226483.
3D structure databases
ProteinModelPortal	O60879.
SMR	O60879. Positions 106-467, 630-1070.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-47261N.
IntAct	O60879. 2 interactions.
STRING	O60879.
PTM databases
PhosphoSite	O60879.
Proteomic databases
PRIDE	O60879.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324765; ENSP00000321348; ENSG00000147202.
GeneID	1730.
KEGG	hsa:1730.
UCSC	uc004eft.2. human. uc004efu.2. human.
Organism-specific databases
CTD	1730.
GeneCards	GC0XP095939.
H-InvDB	HIX0016912.
HGNC	HGNC:2877. DIAPH2.
HPA	CAB015461. HPA005647.
MIM	300108. gene. 300511. phenotype.
neXtProt	NX_O60879.
Orphanet	619. Primary ovarian failure.
PharmGKB	PA27334.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09831.
GeneTree	ENSGT00570000078740.
HOVERGEN	HBG051357.
PhylomeDB	O60879.
Gene expression databases
ArrayExpress	O60879.
Bgee	O60879.
CleanEx	HS_DIAPH2.
Genevestigator	O60879.
GermOnline	ENSG00000147202. Homo sapiens.
Family and domain databases
InterPro	IPR003104. Actin-bd_FH2/DRF_autoreg. IPR016024. ARM-type_fold. IPR014767. Diaphanous_autoregulatory. IPR010465. Drf_DAD. IPR010472. Drf_FH3. IPR010473. Drf_GTPase-bd. IPR015425. FH2_actin-bd. IPR014768. GTPase-bd/formin_homology_3. [Graphical view]
KO	K05741.
Pfam	PF06345. Drf_DAD. 1 hit. PF06367. Drf_FH3. 1 hit. PF06371. Drf_GBD. 1 hit. PF02181. FH2. 1 hit. [Graphical view]
SMART	SM00498. FH2. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit. SSF101447. FH2_actin_bd. 1 hit.
PROSITE	PS51231. DAD. 1 hit. PS51444. FH2. 1 hit. PS51232. GBD_FH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	7003.
SOURCE	Search...

Entry information

Entry name

DIAP2_HUMAN

Accession

Primary (citable) accession number: O60879
Secondary accession number(s): A6NG19 , O60878, Q8WX06, Q8WX48, Q9UJL2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	August 1, 1998
Last modified:	January 25, 2012
This is version 118 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.