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Q27J81 (INF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inverted formin-2
Alternative name(s):
HBEBP2-binding protein C
Gene names
Name:INF2
Synonyms:C14orf151, C14orf173
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1249 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Enzyme regulation

Phosphate inhibits both the depolymerization and severing activities.

Subunit structure

Interacts with actin at the FH2 domain By similarity.

Subcellular location

Cytoplasmperinuclear region Ref.17.

Tissue specificity

Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells. Ref.17

Domain

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.

Involvement in disease

Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.19

Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18

Sequence similarities

Belongs to the formin homology family.

Contains 1 FH2 (formin homology 2) domain.

Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.

Contains 1 WH2 domain.

Sequence caution

The sequence AAH08756.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAH64828.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence ABD59343.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence ABD59344.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence ABD59345.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB15224.1 differs from that shown. Reason: Erroneous termination at positions 636 and 759. Translated as Lys, Gln.

The sequence EAW81872.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q27J81-1)

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: Q27J81-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1232-1249: EVPPDSDDNKTKKLCVIQ → GLRPRPKAK
Note: Contains a phosphoserine at position 1229.
Isoform 3 (identifier: Q27J81-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.16
Chain2 – 12491248Inverted formin-2
PRO_0000310963

Regions

Domain2 – 330329GBD/FH3
Domain554 – 946393FH2
Domain974 – 98916WH2
Coiled coil874 – 95178 Potential
Compositional bias389 – 3935Poly-Ala
Compositional bias421 – 520100Pro-rich

Amino acid modifications

Modified residue21N-acetylserine Ref.16
Modified residue11471Phosphoserine Ref.10
Modified residue11491Phosphoserine Ref.10
Modified residue11791Phosphothreonine Ref.11 Ref.13
Modified residue11921Phosphoserine Ref.15
Modified residue12061Phosphothreonine Ref.12

Natural variations

Alternative sequence235 – 12491015Missing in isoform 3.
VSP_029360
Alternative sequence1232 – 124918EVPPD…LCVIQ → GLRPRPKAK in isoform 2.
VSP_029361
Natural variant131A → T in FSGS5. Ref.17
VAR_063075
Natural variant421L → P in FSGS5. Ref.17
VAR_063076
Natural variant1041C → F in CMTDIE. Ref.18
VAR_067589
Natural variant1041C → R in CMTDIE. Ref.18
VAR_067590
Natural variant1041C → W in CMTDIE. Ref.18
VAR_067591
Natural variant1281L → P in CMTDIE. Ref.18
VAR_067592
Natural variant1321L → R in CMTDIE. Ref.18
VAR_067593
Natural variant164 – 1663Missing in CMTDIE.
VAR_067594
Natural variant1841E → K in FSGS5. Ref.17
VAR_063077
Natural variant1861S → P in FSGS5. Ref.17
VAR_063078
Natural variant1981L → R in FSGS5. Ref.17
VAR_063079
Natural variant2141R → H in FSGS5. Ref.17
VAR_063080
Natural variant2181R → Q in FSGS5. Ref.17
VAR_063081
Natural variant2181R → W in FSGS5. Ref.17
VAR_063082
Natural variant2201E → K in FSGS5. Ref.17
VAR_063083
Natural variant2451L → P in FSGS5. Ref.19
VAR_068845
Natural variant10961P → S.
Corresponds to variant rs34251364 [ dbSNP | Ensembl ].
VAR_037117
Natural variant11351T → M.
Corresponds to variant rs3803311 [ dbSNP | Ensembl ].
VAR_037118

Experimental info

Sequence conflict8321N → S in BAB15224. Ref.1
Sequence conflict8801D → V in BAB15224. Ref.1
Sequence conflict11291Q → K in CAH10628. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 120BE3E0D209BFC0

FASTA1,249135,624
        10         20         30         40         50         60 
MSVKEGAQRK WAALKEKLGP QDSDPTEANL ESADPELCIR LLQMPSVVNY SGLRKRLEGS 

        70         80         90        100        110        120 
DGGWMVQFLE QSGLDLLLEA LARLSGRGVA RISDALLQLT CVSCVRAVMN SRQGIEYILS 

       130        140        150        160        170        180 
NQGYVRQLSQ ALDTSNVMVK KQVFELLAAL CIYSPEGHVL TLDALDHYKT VCSQQYRFSI 

       190        200        210        220        230        240 
VMNELSGSDN VPYVVTLLSV INAVILGPED LRARTQLRNE FIGLQLLDVL ARLRDLEDAD 

       250        260        270        280        290        300 
LLIQLEAFEE AKAEDEEELL RVSGGVDMSS HQEVFASLFH KVSCSPVSAQ LLSVLQGLLH 

       310        320        330        340        350        360 
LEPTLRSSQL LWEALESLVN RAVLLASDAQ ECTLEEVVER LLSVKGRPRP SPLVKAHKSV 

       370        380        390        400        410        420 
QANLDQSQRG SSPQNTTTPK PSVEGQQPAA AAACEPVDHA QSESILKVSQ PRALEQQAST 

       430        440        450        460        470        480 
PPPPPPPPLL PGSSAEPPPP PPPPPLPSVG AKALPTAPPP PPLPGLGAMA PPAPPLPPPL 

       490        500        510        520        530        540 
PGSCEFLPPP PPPLPGLGCP PPPPPLLPGM GWGPPPPPPP LLPCTCSPPV AGGMEEVIVA 

       550        560        570        580        590        600 
QVDHGLGSAW VPSHRRVNPP TLRMKKLNWQ KLPSNVAREH NSMWASLSSP DAEAVEPDFS 

       610        620        630        640        650        660 
SIERLFSFPA AKPKEPTMVA PRARKEPKEI TFLDAKKSLN LNIFLKQFKC SNEEVAAMIR 

       670        680        690        700        710        720 
AGDTTKFDVE VLKQLLKLLP EKHEIENLRA FTEERAKLAS ADHFYLLLLA IPCYQLRIEC 

       730        740        750        760        770        780 
MLLCEGAAAV LDMVRPKAQL VLAACESLLT SRQLPIFCQL ILRIGNFLNY GSHTGDADGF 

       790        800        810        820        830        840 
KISTLLKLTE TKSQQNRVTL LHHVLEEAEK SHPDLLQLPR DLEQPSQAAG INLEIIRSEA 

       850        860        870        880        890        900 
SSNLKKLLET ERKVSASVAE VQEQYTERLQ ASISAFRALD ELFEAIEQKQ RELADYLCED 

       910        920        930        940        950        960 
AQQLSLEDTF STMKAFRDLF LRALKENKDR KEQAAKAERR KQQLAEEEAR RPRGEDGKPV 

       970        980        990       1000       1010       1020 
RKGPGKQEEV CVIDALLADI RKGFQLRKTA RGRGDTDGGS KAASMDPPRA TEPVATSNPA 

      1030       1040       1050       1060       1070       1080 
GDPVGSTRCP ASEPGLDATT ASESRGWDLV DAVTPGPQPT LEQLEEGGPR PLERRSSWYV 

      1090       1100       1110       1120       1130       1140 
DASDVLTTED PQCPQPLEGA WPVTLGDAQA LKPLKFSSNQ PPAAGSSRQD AKDPTSLLGV 

      1150       1160       1170       1180       1190       1200 
LQAEADSTSE GLEDAVHSRG ARPPAAGPGG DEDEDEEDTA PESALDTSLD KSFSEDAVTD 

      1210       1220       1230       1240 
SSGSGTLPRA RGRASKGTGK RRKKRPSRSQ EEVPPDSDDN KTKKLCVIQ 

« Hide

Isoform 2 [UniParc].

Checksum: 3D8D4B942072E19E
Show »

FASTA1,240134,617
Isoform 3 [UniParc].

Checksum: 76C59D96787B51E7
Show »

FASTA23425,954

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 633-1249 (ISOFORM 1).
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 650-1249 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 851-1249 (ISOFORM 1).
Tissue: Eye, PNS and Uterus.
[5]"Full-length cDNA libraries and normalization."
Li W.B., Gruber C., Jessee J., Polayes D.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-279.
Tissue: Fetal brain.
[6]"Cloning of human chromosome 14 open reading frame 173 (C14orf173)."
Wang P., Deng W., Shi T., Ma D.
Submitted (FEB-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 533-1249 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 533-1249 (ISOFORM 2).
[7]Bienvenut W.V., Matallanas D., Cooper W.N., Kolch W.
Submitted (JUL-2007) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 661-673; 764-781 AND 869-889, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Mammary carcinoma.
[8]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1128-1249 (ISOFORM 2).
Tissue: Melanoma.
[9]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1229 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1147 AND SER-1149, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1179, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Liver.
[12]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1206, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1179, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1192, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[17]"Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis."
Brown E.J., Schlondorff J.S., Becker D.J., Tsukaguchi H., Tonna S.J., Uscinski A.L., Higgs H.N., Henderson J.M., Pollak M.R.
Nat. Genet. 42:72-76(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FSGS5 THR-13; PRO-42; LYS-184; PRO-186; ARG-198; HIS-214; TRP-218; GLN-218 AND LYS-220, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[18]"INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy."
Boyer O., Nevo F., Plaisier E., Funalot B., Gribouval O., Benoit G., Cong E.H., Arrondel C., Tete M.J., Montjean R., Richard L., Karras A., Pouteil-Noble C., Balafrej L., Bonnardeaux A., Canaud G., Charasse C., Dantal J. expand/collapse author list , Deschenes G., Deteix P., Dubourg O., Petiot P., Pouthier D., Leguern E., Guiochon-Mantel A., Broutin I., Gubler M.C., Saunier S., Ronco P., Vallat J.M., Alonso M.A., Antignac C., Mollet G.
N. Engl. J. Med. 365:2377-2388(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMTDIE ARG-104; PHE-104; TRP-104; PRO-128; ARG-132 AND 164-ALA--ASP-166 DEL.
[19]"A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis."
Sanchez-Ares M., Garcia-Vidal M., Antucho E.E., Julio P., Eduardo V.M., Lens X.M., Garcia-Gonzalez M.A.
Kidney Int. 83:153-159(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FSGS5 PRO-245.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001026884.3. NM_001031714.3.
NP_071934.3. NM_022489.3.
NP_116103.1. NM_032714.2.
UniGeneHs.24956.

3D structure databases

ProteinModelPortalQ27J81.
SMRQ27J81. Positions 6-325, 555-988.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122172. 7 interactions.
IntActQ27J81. 6 interactions.
MINTMINT-7034523.
STRING9606.ENSP00000376410.

PTM databases

PhosphoSiteQ27J81.

Polymorphism databases

DMDM166215588.

Proteomic databases

PaxDbQ27J81.
PRIDEQ27J81.

Protocols and materials databases

DNASU64423.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000330634; ENSP00000376406; ENSG00000203485. [Q27J81-2]
ENST00000392634; ENSP00000376410; ENSG00000203485. [Q27J81-1]
ENST00000398337; ENSP00000381380; ENSG00000203485. [Q27J81-3]
GeneID64423.
KEGGhsa:64423.
UCSCuc001yoy.4. human. [Q27J81-3]
uc001ypb.2. human. [Q27J81-1]
uc001ypc.2. human. [Q27J81-2]

Organism-specific databases

CTD64423.
GeneCardsGC14P105155.
HGNCHGNC:23791. INF2.
HPAHPA000724.
MIM610982. gene.
613237. phenotype.
614455. phenotype.
neXtProtNX_Q27J81.
Orphanet93114. Autosomal dominant intermediate Charcot-Marie-Tooth disease type E.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBPA162392025.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149898.
HOVERGENHBG081794.
InParanoidQ27J81.
OMAQPVDHAQ.
OrthoDBEOG7T4MN4.
PhylomeDBQ27J81.
TreeFamTF326300.

Gene expression databases

BgeeQ27J81.
CleanExHS_INF2.
GenevestigatorQ27J81.

Family and domain databases

InterProIPR016024. ARM-type_fold.
IPR015425. FH2_Formin.
IPR010472. FH3_dom.
IPR010473. GTPase-bd.
IPR014768. GTPase-bd/formin_homology_3.
IPR027649. Inf2.
IPR003124. WH2_dom.
[Graphical view]
PANTHERPTHR23213:SF5. PTHR23213:SF5. 1 hit.
PfamPF06367. Drf_FH3. 1 hit.
PF06371. Drf_GBD. 1 hit.
PF02181. FH2. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTSM00498. FH2. 1 hit.
SM00246. WH2. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
PROSITEPS51444. FH2. 1 hit.
PS51232. GBD_FH3. 1 hit.
PS51082. WH2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSINF2. human.
GeneWikiINF2.
GenomeRNAi64423.
NextBio66417.
PMAP-CutDBQ27J81.
PROQ27J81.
SOURCESearch...

Entry information

Entry nameINF2_HUMAN
AccessionPrimary (citable) accession number: Q27J81
Secondary accession number(s): Q27J83 expand/collapse secondary AC list , Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: April 16, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM