Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Inverted formin-2

Gene

INF2

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

Functioni

Severs actin filaments and accelerates their polymerization and depolymerization.By similarity

Enzyme regulationi

Phosphate inhibits both the depolymerization and severing activities.

GO - Biological processi

  • actin cytoskeleton organization Source: InterPro
  • regulation of mitochondrial fission Source: MGI
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:G66-32111-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Inverted formin-2
Alternative name(s):
HBEBP2-binding protein C
Gene namesi
Name:INF2
Synonyms:C14orf151, C14orf173
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:23791. INF2.

Subcellular locationi

GO - Cellular componenti

  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Focal segmental glomerulosclerosis 5 (FSGS5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
See also OMIM:613237
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06307513A → T in FSGS5. 1 PublicationCorresponds to variant rs201383094dbSNPEnsembl.1
Natural variantiVAR_06307642L → P in FSGS5. 1 PublicationCorresponds to variant rs267606880dbSNPEnsembl.1
Natural variantiVAR_07222976L → P in FSGS5. 1 Publication1
Natural variantiVAR_073991162L → R in FSGS5. 1 Publication1
Natural variantiVAR_073992168Missing in FSGS5. 1 Publication1
Natural variantiVAR_072230177R → H in FSGS5. 2 Publications1
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 3 Publications1
Natural variantiVAR_072232184E → Q in FSGS5. 1 Publication1
Natural variantiVAR_063078186S → P in FSGS5. 1 PublicationCorresponds to variant rs267606877dbSNPEnsembl.1
Natural variantiVAR_072233193Y → H in FSGS5. 1 Publication1
Natural variantiVAR_063079198L → R in FSGS5. 2 Publications1
Natural variantiVAR_072234202N → D in FSGS5. 1 Publication1
Natural variantiVAR_072235203A → D in FSGS5. 1 Publication1
Natural variantiVAR_072236214R → C in FSGS5. 3 Publications1
Natural variantiVAR_063080214R → H in FSGS5. 2 PublicationsCorresponds to variant rs267606879dbSNPEnsembl.1
Natural variantiVAR_063081218R → Q in FSGS5. 4 PublicationsCorresponds to variant rs267607183dbSNPEnsembl.1
Natural variantiVAR_063082218R → W in FSGS5. 2 PublicationsCorresponds to variant rs267606878dbSNPEnsembl.1
Natural variantiVAR_063083220E → K in FSGS5. 3 Publications1
Natural variantiVAR_068845245L → P in FSGS5. 1 Publication1
Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.
See also OMIM:614455
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07398457L → R in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398568F → S in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398669 – 72Missing in CMTDIE. 1 Publication4
Natural variantiVAR_07398777L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_067589104C → F in CMTDIE. 1 PublicationCorresponds to variant rs387907035dbSNPEnsembl.1
Natural variantiVAR_067590104C → R in CMTDIE. 1 PublicationCorresponds to variant rs387907034dbSNPEnsembl.1
Natural variantiVAR_067591104C → W in CMTDIE. 1 PublicationCorresponds to variant rs387907036dbSNPEnsembl.1
Natural variantiVAR_073988105V → G in CMTDIE. 1 Publication1
Natural variantiVAR_067592128L → P in CMTDIE. 1 PublicationCorresponds to variant rs387907037dbSNPEnsembl.1
Natural variantiVAR_073990132L → P in CMTDIE. 1 Publication1
Natural variantiVAR_067593132L → R in CMTDIE. 1 PublicationCorresponds to variant rs387907038dbSNPEnsembl.1
Natural variantiVAR_067594164 – 166Missing in CMTDIE. 1 Publication3
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 3 Publications1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi64423.
MalaCardsiINF2.
MIMi613237. phenotype.
614455. phenotype.
OpenTargetsiENSG00000203485.
Orphaneti93114. Autosomal dominant intermediate Charcot-Marie-Tooth disease type E.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA162392025.

Polymorphism and mutation databases

BioMutaiINF2.
DMDMi166215588.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003109632 – 1249Inverted formin-2Add BLAST1248

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei351PhosphoserineCombined sources1
Modified residuei1147PhosphoserineCombined sources1
Modified residuei1149PhosphoserineCombined sources1
Modified residuei1179PhosphothreonineCombined sources1
Modified residuei1192PhosphoserineCombined sources1
Modified residuei1194PhosphoserineCombined sources1
Modified residuei1199PhosphothreonineBy similarity1
Modified residuei1206PhosphothreonineCombined sources1
Isoform 2 (identifier: Q27J81-2)
Modified residuei1229PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ27J81.
MaxQBiQ27J81.
PaxDbiQ27J81.
PeptideAtlasiQ27J81.
PRIDEiQ27J81.

PTM databases

iPTMnetiQ27J81.
PhosphoSitePlusiQ27J81.
SwissPalmiQ27J81.

Miscellaneous databases

PMAP-CutDBQ27J81.

Expressioni

Tissue specificityi

Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.1 Publication

Gene expression databases

BgeeiENSG00000203485.
CleanExiHS_INF2.
ExpressionAtlasiQ27J81. baseline and differential.
GenevisibleiQ27J81. HS.

Organism-specific databases

HPAiHPA000724.

Interactioni

Subunit structurei

Interacts with actin at the FH2 domain.By similarity

Protein-protein interaction databases

BioGridi122172. 48 interactors.
IntActiQ27J81. 47 interactors.
MINTiMINT-7034523.
STRINGi9606.ENSP00000376410.

Structurei

3D structure databases

ProteinModelPortaliQ27J81.
SMRiQ27J81.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 330GBD/FH3PROSITE-ProRule annotationAdd BLAST329
Domaini554 – 946FH2PROSITE-ProRule annotationAdd BLAST393
Domaini974 – 989WH2PROSITE-ProRule annotationAdd BLAST16

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili874 – 951Sequence analysisAdd BLAST78

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi389 – 393Poly-Ala5
Compositional biasi421 – 520Pro-richAdd BLAST100

Domaini

The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers.By similarity
Regulated by autoinhibition due to intramolecular GBD-DAD binding.By similarity
The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus.By similarity

Sequence similaritiesi

Belongs to the formin homology family.Curated
Contains 1 FH2 (formin homology 2) domain.PROSITE-ProRule annotation
Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.PROSITE-ProRule annotation
Contains 1 WH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1922. Eukaryota.
ENOG410XQR0. LUCA.
GeneTreeiENSGT00760000118986.
HOVERGENiHBG081794.
InParanoidiQ27J81.
OMAiQPVDHAQ.
OrthoDBiEOG091G04GZ.
PhylomeDBiQ27J81.
TreeFamiTF326300.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR015425. FH2_Formin.
IPR010472. FH3_dom.
IPR014768. GBD/FH3_dom.
IPR010473. GTPase-bd.
IPR027649. Inf2.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR23213:SF5. PTHR23213:SF5. 2 hits.
PfamiPF06367. Drf_FH3. 1 hit.
PF06371. Drf_GBD. 1 hit.
PF02181. FH2. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM01139. Drf_FH3. 1 hit.
SM01140. Drf_GBD. 1 hit.
SM00498. FH2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51444. FH2. 1 hit.
PS51232. GBD_FH3. 1 hit.
PS51082. WH2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q27J81-1) [UniParc]FASTAAdd to basket

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
MSVKEGAQRK WAALKEKLGP QDSDPTEANL ESADPELCIR LLQMPSVVNY
60 70 80 90 100
SGLRKRLEGS DGGWMVQFLE QSGLDLLLEA LARLSGRGVA RISDALLQLT
110 120 130 140 150
CVSCVRAVMN SRQGIEYILS NQGYVRQLSQ ALDTSNVMVK KQVFELLAAL
160 170 180 190 200
CIYSPEGHVL TLDALDHYKT VCSQQYRFSI VMNELSGSDN VPYVVTLLSV
210 220 230 240 250
INAVILGPED LRARTQLRNE FIGLQLLDVL ARLRDLEDAD LLIQLEAFEE
260 270 280 290 300
AKAEDEEELL RVSGGVDMSS HQEVFASLFH KVSCSPVSAQ LLSVLQGLLH
310 320 330 340 350
LEPTLRSSQL LWEALESLVN RAVLLASDAQ ECTLEEVVER LLSVKGRPRP
360 370 380 390 400
SPLVKAHKSV QANLDQSQRG SSPQNTTTPK PSVEGQQPAA AAACEPVDHA
410 420 430 440 450
QSESILKVSQ PRALEQQAST PPPPPPPPLL PGSSAEPPPP PPPPPLPSVG
460 470 480 490 500
AKALPTAPPP PPLPGLGAMA PPAPPLPPPL PGSCEFLPPP PPPLPGLGCP
510 520 530 540 550
PPPPPLLPGM GWGPPPPPPP LLPCTCSPPV AGGMEEVIVA QVDHGLGSAW
560 570 580 590 600
VPSHRRVNPP TLRMKKLNWQ KLPSNVAREH NSMWASLSSP DAEAVEPDFS
610 620 630 640 650
SIERLFSFPA AKPKEPTMVA PRARKEPKEI TFLDAKKSLN LNIFLKQFKC
660 670 680 690 700
SNEEVAAMIR AGDTTKFDVE VLKQLLKLLP EKHEIENLRA FTEERAKLAS
710 720 730 740 750
ADHFYLLLLA IPCYQLRIEC MLLCEGAAAV LDMVRPKAQL VLAACESLLT
760 770 780 790 800
SRQLPIFCQL ILRIGNFLNY GSHTGDADGF KISTLLKLTE TKSQQNRVTL
810 820 830 840 850
LHHVLEEAEK SHPDLLQLPR DLEQPSQAAG INLEIIRSEA SSNLKKLLET
860 870 880 890 900
ERKVSASVAE VQEQYTERLQ ASISAFRALD ELFEAIEQKQ RELADYLCED
910 920 930 940 950
AQQLSLEDTF STMKAFRDLF LRALKENKDR KEQAAKAERR KQQLAEEEAR
960 970 980 990 1000
RPRGEDGKPV RKGPGKQEEV CVIDALLADI RKGFQLRKTA RGRGDTDGGS
1010 1020 1030 1040 1050
KAASMDPPRA TEPVATSNPA GDPVGSTRCP ASEPGLDATT ASESRGWDLV
1060 1070 1080 1090 1100
DAVTPGPQPT LEQLEEGGPR PLERRSSWYV DASDVLTTED PQCPQPLEGA
1110 1120 1130 1140 1150
WPVTLGDAQA LKPLKFSSNQ PPAAGSSRQD AKDPTSLLGV LQAEADSTSE
1160 1170 1180 1190 1200
GLEDAVHSRG ARPPAAGPGG DEDEDEEDTA PESALDTSLD KSFSEDAVTD
1210 1220 1230 1240
SSGSGTLPRA RGRASKGTGK RRKKRPSRSQ EEVPPDSDDN KTKKLCVIQ
Length:1,249
Mass (Da):135,624
Last modified:January 15, 2008 - v2
Checksum:i120BE3E0D209BFC0
GO
Isoform 2 (identifier: Q27J81-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1232-1249: EVPPDSDDNKTKKLCVIQ → GLRPRPKAK

Show »
Length:1,240
Mass (Da):134,617
Checksum:i3D8D4B942072E19E
GO
Isoform 3 (identifier: Q27J81-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     235-1249: Missing.

Show »
Length:234
Mass (Da):25,954
Checksum:i76C59D96787B51E7
GO

Sequence cautioni

The sequence AAH08756 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH64828 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence ABD59343 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence ABD59344 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence ABD59345 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15224 differs from that shown. Reason: Erroneous termination at positions 636 and 759. Translated as Lys, Gln.Curated
The sequence EAW81872 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti832N → S in BAB15224 (PubMed:14702039).Curated1
Sequence conflicti880D → V in BAB15224 (PubMed:14702039).Curated1
Sequence conflicti1129Q → K in CAH10628 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06307513A → T in FSGS5. 1 PublicationCorresponds to variant rs201383094dbSNPEnsembl.1
Natural variantiVAR_06307642L → P in FSGS5. 1 PublicationCorresponds to variant rs267606880dbSNPEnsembl.1
Natural variantiVAR_07398457L → R in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398568F → S in CMTDIE; unknown pathological significance. 1 Publication1
Natural variantiVAR_07398669 – 72Missing in CMTDIE. 1 Publication4
Natural variantiVAR_07222976L → P in FSGS5. 1 Publication1
Natural variantiVAR_07398777L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 Publications1
Natural variantiVAR_067589104C → F in CMTDIE. 1 PublicationCorresponds to variant rs387907035dbSNPEnsembl.1
Natural variantiVAR_067590104C → R in CMTDIE. 1 PublicationCorresponds to variant rs387907034dbSNPEnsembl.1
Natural variantiVAR_067591104C → W in CMTDIE. 1 PublicationCorresponds to variant rs387907036dbSNPEnsembl.1
Natural variantiVAR_073988105V → G in CMTDIE. 1 Publication1
Natural variantiVAR_073989114G → D.1 Publication1
Natural variantiVAR_067592128L → P in CMTDIE. 1 PublicationCorresponds to variant rs387907037dbSNPEnsembl.1
Natural variantiVAR_073990132L → P in CMTDIE. 1 Publication1
Natural variantiVAR_067593132L → R in CMTDIE. 1 PublicationCorresponds to variant rs387907038dbSNPEnsembl.1
Natural variantiVAR_073991162L → R in FSGS5. 1 Publication1
Natural variantiVAR_067594164 – 166Missing in CMTDIE. 1 Publication3
Natural variantiVAR_073992168Missing in FSGS5. 1 Publication1
Natural variantiVAR_072230177R → H in FSGS5. 2 Publications1
Natural variantiVAR_072231183N → K.1 Publication1
Natural variantiVAR_063077184E → K in CMTDIE and FSGS5. 3 Publications1
Natural variantiVAR_072232184E → Q in FSGS5. 1 Publication1
Natural variantiVAR_063078186S → P in FSGS5. 1 PublicationCorresponds to variant rs267606877dbSNPEnsembl.1
Natural variantiVAR_072233193Y → H in FSGS5. 1 Publication1
Natural variantiVAR_063079198L → R in FSGS5. 2 Publications1
Natural variantiVAR_072234202N → D in FSGS5. 1 Publication1
Natural variantiVAR_072235203A → D in FSGS5. 1 Publication1
Natural variantiVAR_072236214R → C in FSGS5. 3 Publications1
Natural variantiVAR_063080214R → H in FSGS5. 2 PublicationsCorresponds to variant rs267606879dbSNPEnsembl.1
Natural variantiVAR_063081218R → Q in FSGS5. 4 PublicationsCorresponds to variant rs267607183dbSNPEnsembl.1
Natural variantiVAR_063082218R → W in FSGS5. 2 PublicationsCorresponds to variant rs267606878dbSNPEnsembl.1
Natural variantiVAR_063083220E → K in FSGS5. 3 Publications1
Natural variantiVAR_068845245L → P in FSGS5. 1 Publication1
Natural variantiVAR_072237547G → D.1 PublicationCorresponds to variant rs376451593dbSNPEnsembl.1
Natural variantiVAR_0371171096P → S.1 PublicationCorresponds to variant rs34251364dbSNPEnsembl.1
Natural variantiVAR_0371181135T → M.Corresponds to variant rs3803311dbSNPEnsembl.1
Natural variantiVAR_0722381160G → S.1 PublicationCorresponds to variant rs9672065dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029360235 – 1249Missing in isoform 3. 2 PublicationsAdd BLAST1015
Alternative sequenceiVSP_0293611232 – 1249EVPPD…LCVIQ → GLRPRPKAK in isoform 2. 3 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025709 mRNA. Translation: BAB15224.1. Sequence problems.
AK290083 mRNA. Translation: BAF82772.1.
AL583722 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81872.1. Sequence problems.
BC006173 mRNA. Translation: AAH06173.1.
BC008756 mRNA. Translation: AAH08756.2. Different initiation.
BC064828 mRNA. Translation: AAH64828.1. Different initiation.
BX248757 mRNA. Translation: CAD66564.1.
DQ395338 mRNA. Translation: ABD59343.1. Different initiation.
DQ395339 mRNA. Translation: ABD59344.1. Different initiation.
DQ395340 mRNA. Translation: ABD59345.1. Different initiation.
AL832905 mRNA. Translation: CAH10628.1.
CCDSiCCDS41999.1. [Q27J81-3]
CCDS45173.1. [Q27J81-2]
CCDS9989.2. [Q27J81-1]
RefSeqiNP_001026884.3. NM_001031714.3. [Q27J81-2]
NP_071934.3. NM_022489.3. [Q27J81-1]
NP_116103.1. NM_032714.2. [Q27J81-3]
UniGeneiHs.24956.

Genome annotation databases

EnsembliENST00000330634; ENSP00000376406; ENSG00000203485. [Q27J81-2]
ENST00000392634; ENSP00000376410; ENSG00000203485. [Q27J81-1]
ENST00000398337; ENSP00000381380; ENSG00000203485. [Q27J81-3]
GeneIDi64423.
KEGGihsa:64423.
UCSCiuc001yoy.5. human. [Q27J81-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025709 mRNA. Translation: BAB15224.1. Sequence problems.
AK290083 mRNA. Translation: BAF82772.1.
AL583722 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81872.1. Sequence problems.
BC006173 mRNA. Translation: AAH06173.1.
BC008756 mRNA. Translation: AAH08756.2. Different initiation.
BC064828 mRNA. Translation: AAH64828.1. Different initiation.
BX248757 mRNA. Translation: CAD66564.1.
DQ395338 mRNA. Translation: ABD59343.1. Different initiation.
DQ395339 mRNA. Translation: ABD59344.1. Different initiation.
DQ395340 mRNA. Translation: ABD59345.1. Different initiation.
AL832905 mRNA. Translation: CAH10628.1.
CCDSiCCDS41999.1. [Q27J81-3]
CCDS45173.1. [Q27J81-2]
CCDS9989.2. [Q27J81-1]
RefSeqiNP_001026884.3. NM_001031714.3. [Q27J81-2]
NP_071934.3. NM_022489.3. [Q27J81-1]
NP_116103.1. NM_032714.2. [Q27J81-3]
UniGeneiHs.24956.

3D structure databases

ProteinModelPortaliQ27J81.
SMRiQ27J81.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122172. 48 interactors.
IntActiQ27J81. 47 interactors.
MINTiMINT-7034523.
STRINGi9606.ENSP00000376410.

PTM databases

iPTMnetiQ27J81.
PhosphoSitePlusiQ27J81.
SwissPalmiQ27J81.

Polymorphism and mutation databases

BioMutaiINF2.
DMDMi166215588.

Proteomic databases

EPDiQ27J81.
MaxQBiQ27J81.
PaxDbiQ27J81.
PeptideAtlasiQ27J81.
PRIDEiQ27J81.

Protocols and materials databases

DNASUi64423.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330634; ENSP00000376406; ENSG00000203485. [Q27J81-2]
ENST00000392634; ENSP00000376410; ENSG00000203485. [Q27J81-1]
ENST00000398337; ENSP00000381380; ENSG00000203485. [Q27J81-3]
GeneIDi64423.
KEGGihsa:64423.
UCSCiuc001yoy.5. human. [Q27J81-1]

Organism-specific databases

CTDi64423.
DisGeNETi64423.
GeneCardsiINF2.
HGNCiHGNC:23791. INF2.
HPAiHPA000724.
MalaCardsiINF2.
MIMi610982. gene.
613237. phenotype.
614455. phenotype.
neXtProtiNX_Q27J81.
OpenTargetsiENSG00000203485.
Orphaneti93114. Autosomal dominant intermediate Charcot-Marie-Tooth disease type E.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA162392025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1922. Eukaryota.
ENOG410XQR0. LUCA.
GeneTreeiENSGT00760000118986.
HOVERGENiHBG081794.
InParanoidiQ27J81.
OMAiQPVDHAQ.
OrthoDBiEOG091G04GZ.
PhylomeDBiQ27J81.
TreeFamiTF326300.

Enzyme and pathway databases

BioCyciZFISH:G66-32111-MONOMER.

Miscellaneous databases

ChiTaRSiINF2. human.
GeneWikiiINF2.
GenomeRNAii64423.
PMAP-CutDBQ27J81.
PROiQ27J81.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203485.
CleanExiHS_INF2.
ExpressionAtlasiQ27J81. baseline and differential.
GenevisibleiQ27J81. HS.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR015425. FH2_Formin.
IPR010472. FH3_dom.
IPR014768. GBD/FH3_dom.
IPR010473. GTPase-bd.
IPR027649. Inf2.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR23213:SF5. PTHR23213:SF5. 2 hits.
PfamiPF06367. Drf_FH3. 1 hit.
PF06371. Drf_GBD. 1 hit.
PF02181. FH2. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM01139. Drf_FH3. 1 hit.
SM01140. Drf_GBD. 1 hit.
SM00498. FH2. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS51444. FH2. 1 hit.
PS51232. GBD_FH3. 1 hit.
PS51082. WH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiINF2_HUMAN
AccessioniPrimary (citable) accession number: Q27J81
Secondary accession number(s): Q27J83
, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 2, 2016
This is version 108 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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.