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Protein

Protein diaphanous homolog 2

Gene

DIAPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • actin binding Source: InterPro
  • Rho GTPase binding Source: InterPro
  • signaling receptor binding Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, 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

EuPathDBiHostDB:ENSG00000147202.17
HGNCiHGNC:2877 DIAPH2
MIMi300108 gene
neXtProtiNX_O60879

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 NON RARE IN EUROPE: 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
ProteomicsDBi49639
49640 [O60879-2]
49641 [O60879-3]

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 Expressed in 223 organ(s), highest expression level in placenta
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

Protein-protein interaction databases

BioGridi108074, 10 interactors
DIPiDIP-47261N
IntActiO60879, 9 interactors
MINTiO60879
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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1924 Eukaryota
ENOG410Y29H LUCA
GeneTreeiENSGT00760000118986
HOGENOMiHOG000293231
HOVERGENiHBG051357
InParanoidiO60879
KOiK05741
PhylomeDBiO60879
TreeFamiTF315383

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR027644 DIAPH2
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
PANTHERiPTHR23213:SF174 PTHR23213:SF174, 1 hit
PfamiView protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NML8A6NML8_HUMAN
Diaphanous homolog 2 (Drosophila), ...
DIAPH2 hCG_1811114
1,096Annotation score:
C9J6U3C9J6U3_HUMAN
Protein diaphanous homolog 2
DIAPH2
1,103Annotation score:
K4DI95K4DI95_HUMAN
Diaphanous homolog 2 (Drosophila), ...
DIAPH2 hCG_1811114
1,101Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049095425F → L. Corresponds to variant dbSNP:rs20361Ensembl.1
Natural variantiVAR_049096426L → V. Corresponds to variant dbSNP:rs20361Ensembl.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
AL031053 Genomic DNA No translation available.
AL139809 Genomic DNA No translation available.
AL161624 Genomic DNA No translation available.
AL391821 Genomic DNA No translation available.
AL592157 Genomic DNA No translation available.
AL606530 Genomic DNA No translation available.
AL669876 Genomic DNA No translation available.
Z86061 Genomic DNA No translation available.
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15909 mRNA Translation: CAA75870.1
Y15908 mRNA Translation: CAA75869.1
AL031053 Genomic DNA No translation available.
AL139809 Genomic DNA No translation available.
AL161624 Genomic DNA No translation available.
AL391821 Genomic DNA No translation available.
AL592157 Genomic DNA No translation available.
AL606530 Genomic DNA No translation available.
AL669876 Genomic DNA No translation available.
Z86061 Genomic DNA No translation available.
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
MINTiO60879
STRINGi9606.ENSP00000321348

PTM databases

iPTMnetiO60879
PhosphoSitePlusiO60879

Polymorphism and mutation databases

BioMutaiDIAPH2

Proteomic databases

EPDiO60879
MaxQBiO60879
PaxDbiO60879
PeptideAtlasiO60879
PRIDEiO60879
ProteomicsDBi49639
49640 [O60879-2]
49641 [O60879-3]

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
EuPathDBiHostDB:ENSG00000147202.17
GeneCardsiDIAPH2
HGNCiHGNC:2877 DIAPH2
HPAiCAB015461
CAB068183
CAB068184
HPA005647
MalaCardsiDIAPH2
MIMi300108 gene
300511 phenotype
neXtProtiNX_O60879
OpenTargetsiENSG00000147202
Orphaneti619 NON RARE IN EUROPE: 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
PROiPR:O60879
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147202 Expressed in 223 organ(s), highest expression level in placenta
CleanExiHS_DIAPH2
ExpressionAtlasiO60879 baseline and differential
GenevisibleiO60879 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR027644 DIAPH2
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
PANTHERiPTHR23213:SF174 PTHR23213:SF174, 1 hit
PfamiView protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDIAP2_HUMAN
AccessioniPrimary (citable) accession number: O60879
Secondary accession number(s): A6NG19
, O60878, Q8WX06, Q8WX48, Q9UJL2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 179 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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