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Protein

Protein diaphanous homolog 2

Gene

DIAPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • receptor binding Source: ProtInc

GO - Biological processi

  • actin filament organization Source: InterPro
  • cytokinesis Source: ProtInc
  • female gamete generation Source: ProtInc
  • multicellular organism development Source: UniProtKB-KW
  • oogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Oogenesis

Enzyme and pathway databases

ReactomeiR-HSA-5663220. RHO GTPases Activate Formins.
SIGNORiO60879.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein diaphanous homolog 2
Alternative name(s):
Diaphanous-related formin-2
Short name:
DRF2
Gene namesi
Name:DIAPH2
Synonyms:DIA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2877. DIAPH2.

Subcellular locationi

Isoform 3 :

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 2A (POF2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:300511

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

DisGeNETi1730.
MalaCardsiDIAPH2.
MIMi300511. phenotype.
OpenTargetsiENSG00000147202.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA27334.

Polymorphism and mutation databases

BioMutaiDIAPH2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001948951 – 1101Protein diaphanous homolog 2Add BLAST1101

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO60879.
MaxQBiO60879.
PaxDbiO60879.
PeptideAtlasiO60879.
PRIDEiO60879.

PTM databases

iPTMnetiO60879.
PhosphoSitePlusiO60879.

Expressioni

Tissue specificityi

Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.

Developmental stagei

Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian follicles.

Gene expression databases

BgeeiENSG00000147202.
CleanExiHS_DIAPH2.
ExpressionAtlasiO60879. baseline and differential.
GenevisibleiO60879. HS.

Organism-specific databases

HPAiCAB015461.
CAB068183.
CAB068184.
HPA005647.

Interactioni

Subunit structurei

Isoform 3 interacts with RHOD in the GTP-bound form.1 Publication

GO - Molecular functioni

  • receptor binding Source: ProtInc

Protein-protein interaction databases

BioGridi108074. 10 interactors.
DIPiDIP-47261N.
IntActiO60879. 9 interactors.
STRINGi9606.ENSP00000321348.

Structurei

3D structure databases

ProteinModelPortaliO60879.
SMRiO60879.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini98 – 464GBD/FH3PROSITE-ProRule annotationAdd BLAST367
Domaini549 – 623FH1Add BLAST75
Domaini628 – 1028FH2PROSITE-ProRule annotationAdd BLAST401
Domaini1051 – 1081DADPROSITE-ProRule annotationAdd BLAST31

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili366 – 418Sequence analysisAdd BLAST53
Coiled coili487 – 547Sequence analysisAdd BLAST61
Coiled coili903 – 1053Sequence analysisAdd BLAST151

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi257 – 260Poly-Leu4
Compositional biasi543 – 546Poly-Ser4
Compositional biasi562 – 572Poly-ProAdd BLAST11
Compositional biasi576 – 585Poly-Pro10
Compositional biasi591 – 597Poly-Pro7
Compositional biasi603 – 608Poly-Pro6
Compositional biasi613 – 616Poly-Pro4
Compositional biasi1038 – 1041Poly-Lys4
Compositional biasi1072 – 1075Arg/Lys-rich (basic)4

Domaini

The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).By similarity

Sequence similaritiesi

Contains 1 DAD (diaphanous autoregulatory) domain.PROSITE-ProRule annotation
Contains 1 FH2 (formin homology 2) domain.PROSITE-ProRule annotation
Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1924. Eukaryota.
ENOG410Y29H. LUCA.
GeneTreeiENSGT00760000118986.
HOGENOMiHOG000293231.
HOVERGENiHBG051357.
InParanoidiO60879.
KOiK05741.
PhylomeDBiO60879.
TreeFamiTF315383.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR014767. DAD_dom.
IPR027644. DIAPH2.
IPR010465. Drf_DAD.
IPR015425. FH2_Formin.
IPR010472. FH3_dom.
IPR014768. GBD/FH3_dom.
IPR010473. GTPase-bd.
[Graphical view]
PANTHERiPTHR23213:SF174. PTHR23213:SF174. 2 hits.
PfamiPF06345. Drf_DAD. 1 hit.
PF06367. Drf_FH3. 1 hit.
PF06371. Drf_GBD. 1 hit.
PF02181. FH2. 1 hit.
[Graphical view]
SMARTiSM01139. Drf_FH3. 1 hit.
SM01140. Drf_GBD. 1 hit.
SM00498. FH2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51231. DAD. 1 hit.
PS51444. FH2. 1 hit.
PS51232. GBD_FH3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60879-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MEQPGAAASG AGGGSEEPGG GRSNKRSAGN RAANEEETKN KPKLNIQIKT
60 70 80 90 100
LADDVRDRIT SFRKSTVKKE KPLIQHPIDS QVAMSEFPAA QPLYDERSLN
110 120 130 140 150
LSEKEVLDLF EKMMEDMNLN EEKKAPLRNK DFTTKREMVV QYISATAKSG
160 170 180 190 200
GLKNSKHECT LSSQEYVHEL RSGISDEKLL NCLESLRVSL TSNPVSWVNN
210 220 230 240 250
FGHEGLGLLL DELEKLLDKK QQENIDKKNQ YKLIQCLKAF MNNKFGLQRI
260 270 280 290 300
LGDERSLLLL ARAIDPKQPN MMTEIVKILS AICIVGEENI LDKLLGAITT
310 320 330 340 350
AAERNNRERF SPIVEGLENQ EALQLQVACM QFINALVTSP YELDFRIHLR
360 370 380 390 400
NEFLRSGLKT MLPDLKEKEN DELDIQLKVF DENKEDDLTE LSHRLNDIRA
410 420 430 440 450
EMDDMNEVYH LLYNMLKDTA AENYFLSILQ HFLLIRNDYY IRPQYYKIIE
460 470 480 490 500
ECVSQIVLHC SGMDPDFKYR QRLDIDLTHL IDSCVNKAKV EESEQKAAEF
510 520 530 540 550
SKKFDEEFTA RQEAQAELQK RDEKIKELEA EIQQLRTQAQ VLSSSSGIPG
560 570 580 590 600
PPAAPPLPGV GPPPPPPAPP LPGGAPLPPP PPPLPGMMGI PPPPPPPLLF
610 620 630 640 650
GGPPPPPPLG GVPPPPGISL NLPYGMKQKK MYKPEVSMKR INWSKIEPTE
660 670 680 690 700
LSENCFWLRV KEDKFENPDL FAKLALNFAT QIKVQKNAEA LEEKKTGPTK
710 720 730 740 750
KKVKELRILD PKTAQNLSIF LGSYRMPYED IRNVILEVNE DMLSEALIQN
760 770 780 790 800
LVKHLPEQKI LNELAELKNE YDDLCEPEQF GVVMSSVKML QPRLSSILFK
810 820 830 840 850
LTFEEHINNI KPSIIAVTLA CEELKKSESF NRLLELVLLV GNYMNSGSRN
860 870 880 890 900
AQSLGFKINF LCKIRDTKSA DQKTTLLHFI ADICEEKYRD ILKFPEELEH
910 920 930 940 950
VESASKVSAQ ILKSNLASME QQIVHLERDI KKFPQAENQH DKFVEKMTSF
960 970 980 990 1000
TKTAREQYEK LSTMHNNMMK LYENLGEYFI FDSKTVSIEE FFGDLNNFRT
1010 1020 1030 1040 1050
LFLEAVRENN KRREMEEKTR RAKLAKEKAE QEKLERQKKK KQLIDINKEG
1060 1070 1080 1090 1100
DETGVMDNLL EALQSGAAFR DRRKRIPRNP DNRRVPLERS RSRHNGAISS

K
Length:1,101
Mass (Da):125,569
Last modified:August 1, 1998 - v1
Checksum:i399F1C292D79188B
GO
Isoform 2 (identifier: O60879-2) [UniParc]FASTAAdd to basket
Also known as: DIA-12C, DIA2B

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

Show »
Length:1,096
Mass (Da):124,827
Checksum:iD43A61A84A4B937F
GO
Isoform 3 (identifier: O60879-3) [UniParc]FASTAAdd to basket
Also known as: DIA2C

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

Show »
Length:1,097
Mass (Da):125,043
Checksum:iEE15E9AC8C949229
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049095425F → L.Corresponds to variant rs20361dbSNPEnsembl.1
Natural variantiVAR_049096426L → V.Corresponds to variant rs20361dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01295545 – 55Missing in isoform 3. CuratedAdd BLAST11
Alternative sequenceiVSP_012956149S → SIVGSKVT in isoform 3. Curated1
Alternative sequenceiVSP_0015731081 – 1101DNRRV…AISSK → VVNHPCATRANPRSAT in isoform 2. CuratedAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14467.1. [O60879-1]
CCDS14468.1. [O60879-2]
RefSeqiNP_006720.1. NM_006729.4. [O60879-1]
NP_009293.1. NM_007309.3. [O60879-2]
UniGeneiHs.226483.

Genome annotation databases

EnsembliENST00000324765; ENSP00000321348; ENSG00000147202. [O60879-1]
ENST00000373049; ENSP00000362140; ENSG00000147202. [O60879-2]
GeneIDi1730.
KEGGihsa:1730.
UCSCiuc004eft.5. human. [O60879-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14467.1. [O60879-1]
CCDS14468.1. [O60879-2]
RefSeqiNP_006720.1. NM_006729.4. [O60879-1]
NP_009293.1. NM_007309.3. [O60879-2]
UniGeneiHs.226483.

3D structure databases

ProteinModelPortaliO60879.
SMRiO60879.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108074. 10 interactors.
DIPiDIP-47261N.
IntActiO60879. 9 interactors.
STRINGi9606.ENSP00000321348.

PTM databases

iPTMnetiO60879.
PhosphoSitePlusiO60879.

Polymorphism and mutation databases

BioMutaiDIAPH2.

Proteomic databases

EPDiO60879.
MaxQBiO60879.
PaxDbiO60879.
PeptideAtlasiO60879.
PRIDEiO60879.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324765; ENSP00000321348; ENSG00000147202. [O60879-1]
ENST00000373049; ENSP00000362140; ENSG00000147202. [O60879-2]
GeneIDi1730.
KEGGihsa:1730.
UCSCiuc004eft.5. human. [O60879-1]

Organism-specific databases

CTDi1730.
DisGeNETi1730.
GeneCardsiDIAPH2.
HGNCiHGNC:2877. DIAPH2.
HPAiCAB015461.
CAB068183.
CAB068184.
HPA005647.
MalaCardsiDIAPH2.
MIMi300108. gene.
300511. phenotype.
neXtProtiNX_O60879.
OpenTargetsiENSG00000147202.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA27334.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1924. Eukaryota.
ENOG410Y29H. LUCA.
GeneTreeiENSGT00760000118986.
HOGENOMiHOG000293231.
HOVERGENiHBG051357.
InParanoidiO60879.
KOiK05741.
PhylomeDBiO60879.
TreeFamiTF315383.

Enzyme and pathway databases

ReactomeiR-HSA-5663220. RHO GTPases Activate Formins.
SIGNORiO60879.

Miscellaneous databases

ChiTaRSiDIAPH2. human.
GeneWikiiDIAPH2.
GenomeRNAii1730.
PROiO60879.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147202.
CleanExiHS_DIAPH2.
ExpressionAtlasiO60879. baseline and differential.
GenevisibleiO60879. HS.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR014767. DAD_dom.
IPR027644. DIAPH2.
IPR010465. Drf_DAD.
IPR015425. FH2_Formin.
IPR010472. FH3_dom.
IPR014768. GBD/FH3_dom.
IPR010473. GTPase-bd.
[Graphical view]
PANTHERiPTHR23213:SF174. PTHR23213:SF174. 2 hits.
PfamiPF06345. Drf_DAD. 1 hit.
PF06367. Drf_FH3. 1 hit.
PF06371. Drf_GBD. 1 hit.
PF02181. FH2. 1 hit.
[Graphical view]
SMARTiSM01139. Drf_FH3. 1 hit.
SM01140. Drf_GBD. 1 hit.
SM00498. FH2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51231. DAD. 1 hit.
PS51444. FH2. 1 hit.
PS51232. GBD_FH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDIAP2_HUMAN
AccessioniPrimary (citable) accession number: O60879
Secondary accession number(s): A6NG19
, O60878, Q8WX06, Q8WX48, Q9UJL2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: November 2, 2016
This is version 164 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.