INF2

Protein namesⁱ	Recommended name: Inverted formin-2 Alternative name(s): HBEBP2-binding protein C
Gene namesⁱ	Name:INF2 Synonyms:C14orf151, C14orf173
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23791, INF2
MIMⁱ	610982, gene
neXtProtⁱ	NX_Q27J81
VEuPathDBⁱ	HostDB:ENSG00000203485

Keywords - Cellular componentⁱ

Cytoplasm

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Focal segmental glomerulosclerosis 5 (FSGS5)6 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_063075	13	A → T in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs201383094EnsemblClinVar.	1
Natural variantⁱVAR_063076	42	L → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606880EnsemblClinVar.	1
Natural variantⁱVAR_079801	73	G → S in FSGS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566777560EnsemblClinVar.	1
Natural variantⁱVAR_072229	76	L → P in FSGS5. 1 Publication	1
Natural variantⁱVAR_079802	81	L → P in FSGS5. 1 Publication	1
Natural variantⁱVAR_079803	81	Missing in FSGS5; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_079804	151	C → R in FSGS5. 1 Publication	1
Natural variantⁱVAR_079805	158	H → D in FSGS5. 1 Publication	1
Natural variantⁱVAR_073991	162	L → R in FSGS5. 1 Publication	1
Natural variantⁱVAR_073992	168	Missing in FSGS5. 1 Publication	1
Natural variantⁱVAR_079806	177	R → C in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs1595166085EnsemblClinVar.	1
Natural variantⁱVAR_072230	177	R → H in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs1566778651EnsemblClinVar.	1
Natural variantⁱVAR_079807	181	V → G in FSGS5; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_063077	184	E → K in CMTDIE and FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs1566778676EnsemblClinVar.	1
Natural variantⁱVAR_072232	184	E → Q in FSGS5. 1 Publication	1
Natural variantⁱVAR_063078	186	S → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606877EnsemblClinVar.	1
Natural variantⁱVAR_072233	193	Y → H in FSGS5. 1 Publication	1
Natural variantⁱVAR_063079	198	L → R in FSGS5. 3 Publications	1
Natural variantⁱVAR_072234	202	N → D in FSGS5. 1 Publication	1
Natural variantⁱVAR_072235	203	A → D in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs1595166203EnsemblClinVar.	1
Natural variantⁱVAR_072236	214	R → C in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs912928648EnsemblClinVar.	1
Natural variantⁱVAR_063080	214	R → H in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606879EnsemblClinVar.	1
Natural variantⁱVAR_063081	218	R → Q in FSGS5. 5 PublicationsCorresponds to variant dbSNP:rs267607183EnsemblClinVar.	1
Natural variantⁱVAR_063082	218	R → W in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606878EnsemblClinVar.	1
Natural variantⁱVAR_063083	220	E → K in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs530391015EnsemblClinVar.	1
Natural variantⁱVAR_068845	245	L → P in FSGS5. 1 Publication	1

Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)5 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_073984	57	L → R in CMTDIE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1595163736EnsemblClinVar.	1
Natural variantⁱVAR_073985	68	F → S in CMTDIE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1595163801EnsemblClinVar.	1
Natural variantⁱVAR_073986	69 – 72	Missing in CMTDIE. 1 Publication	4
Natural variantⁱVAR_073987	77	L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1595163851EnsemblClinVar.	1
Natural variantⁱVAR_067589	104	C → F in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907035EnsemblClinVar.	1
Natural variantⁱVAR_067590	104	C → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907034EnsemblClinVar.	1
Natural variantⁱVAR_067591	104	C → W in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907036EnsemblClinVar.	1
Natural variantⁱVAR_073988	105	V → G in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs1555373363EnsemblClinVar.	1
Natural variantⁱVAR_067592	128	L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907037EnsemblClinVar.	1
Natural variantⁱVAR_073990	132	L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.	1
Natural variantⁱVAR_067593	132	L → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.	1
Natural variantⁱVAR_067594	164 – 166	Missing in CMTDIE. 1 Publication	3
Natural variantⁱVAR_063077	184	E → K in CMTDIE and FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs1566778676EnsemblClinVar.	1

Keywords - Diseaseⁱ

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

Organism-specific databases

DisGeNET More...DisGeNETⁱ	64423
GeneReviewsⁱ	INF2
MalaCards human disease database More...MalaCardsⁱ	INF2
MIMⁱ	613237, phenotype 614455, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000203485
Orphanetⁱ	93114, Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 656, Genetic steroid-resistant nephrotic syndrome
PharmGKBⁱ	PA162392025

Miscellaneous databases

Pharosⁱ	Q27J81, Tbio

Pharosⁱ

Q27J81, Tbio

Genetic variation databases

BioMutaⁱ	INF2
DMDMⁱ	166215588

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources
ChainⁱPRO_0000310963	2 – 1249	Inverted formin-2Add BLAST		1248

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	2	N-acetylserineCombined sources	1
Modified residueⁱ	351	PhosphoserineCombined sources	1
Modified residueⁱ	1147	PhosphoserineCombined sources	1
Modified residueⁱ	1149	PhosphoserineCombined sources	1
Modified residueⁱ	1179	PhosphothreonineCombined sources	1
Modified residueⁱ	1192	PhosphoserineCombined sources	1
Modified residueⁱ	1194	PhosphoserineCombined sources	1
Modified residueⁱ	1199	PhosphothreonineBy similarity	1
Modified residueⁱ	1206	PhosphothreonineCombined sources	1
Isoform 2 (identifier: Q27J81-2)
Modified residueⁱ	1229	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q27J81
jPOSTⁱ	Q27J81
MassIVEⁱ	Q27J81
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q27J81
PaxDbⁱ	Q27J81
PeptideAtlas More...PeptideAtlasⁱ	Q27J81
PRIDEⁱ	Q27J81
ProteomicsDBⁱ	61269 [Q27J81-1] 61270 [Q27J81-2] 61271 [Q27J81-3]

PTM databases

GlyGenⁱ	Q27J81, 1 site, 1 O-linked glycan (1 site)
iPTMnetⁱ	Q27J81
MetOSiteⁱ	Q27J81
PhosphoSitePlusⁱ	Q27J81
SwissPalmⁱ	Q27J81

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000203485, Expressed in tibial nerve and 221 other tissues
ExpressionAtlasⁱ	Q27J81, baseline and differential
Genevisibleⁱ	Q27J81, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000203485, Low tissue specificity

HPAⁱ

ENSG00000203485, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Interacts with actin at the FH2 domain.

Interacts with DAAM2 (PubMed:33232676).

By similarity1 Publication

GO - Molecular functionⁱ

actin binding Source: UniProtKB-KW
small GTPase binding Source: InterPro

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	122172, 254 interactors
IntActⁱ	Q27J81, 60 interactors
Molecular INTeraction database More...MINTⁱ	Q27J81
STRINGⁱ	9606.ENSP00000376410

Miscellaneous databases

RNActⁱ	Q27J81, protein

RNActⁱ

Q27J81, protein

Structureⁱ

3D structure databases

SMRⁱ	Q27J81
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	2 – 330	GBD/FH3PROSITE-ProRule annotationAdd BLAST	329
Domainⁱ	554 – 946	FH2PROSITE-ProRule annotationAdd BLAST	393
Domainⁱ	974 – 989	WH2PROSITE-ProRule annotationAdd BLAST	16

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 29	DisorderedSequence analysisAdd BLAST	29
Regionⁱ	347 – 489	DisorderedSequence analysisAdd BLAST	143
Regionⁱ	928 – 966	DisorderedSequence analysisAdd BLAST	39
Regionⁱ	988 – 1076	DisorderedSequence analysisAdd BLAST	89
Regionⁱ	1112 – 1249	DisorderedSequence analysisAdd BLAST	138

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	874 – 951	Sequence analysisAdd BLAST		78

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	1 – 22	Basic and acidic residuesSequence analysisAdd BLAST	22
Compositional biasⁱ	360 – 384	Polar residuesSequence analysisAdd BLAST	25
Compositional biasⁱ	417 – 489	Pro residuesSequence analysisAdd BLAST	73
Compositional biasⁱ	1113 – 1133	Polar residuesSequence analysisAdd BLAST	21
Compositional biasⁱ	1185 – 1208	Polar residuesSequence analysisAdd BLAST	24
Compositional biasⁱ	1225 – 1243	Basic and acidic residuesSequence analysisAdd BLAST	19

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

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	KOG1922, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000155691
HOGENOMⁱ	CLU_999410_0_0_1
InParanoidⁱ	Q27J81
OMAⁱ	DHYKMVC
Database of Orthologous Groups More...OrthoDBⁱ	1204639at2759
PhylomeDBⁱ	Q27J81
TreeFamⁱ	TF326300

Family and domain databases

Gene3Dⁱ	1.20.58.2220, 1 hit 1.25.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR015425, FH2_Formin IPR042201, FH2_Formin_sf IPR010472, FH3_dom IPR014768, GBD/FH3_dom IPR010473, GTPase-bd IPR027649, Inf2 IPR003124, WH2_dom
PANTHERⁱ	PTHR46345, PTHR46345, 2 hits
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF06367, Drf_FH3, 1 hit PF06371, Drf_GBD, 1 hit PF02181, FH2, 1 hit PF02205, WH2, 1 hit
SMARTⁱ	View protein in SMART SM01139, Drf_FH3, 1 hit SM01140, Drf_GBD, 1 hit SM00498, FH2, 1 hit
SUPFAMⁱ	SSF48371, SSF48371, 1 hit
PROSITEⁱ	View protein in PROSITE PS51444, FH2, 1 hit PS51232, GBD_FH3, 1 hit PS51082, WH2, 1 hit

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. Align Add to basket

This entry has 3 described isoforms and 28 potential isoforms that are computationally mapped.Show all Align All

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

This isoform has been chosen as the canonicalⁱ 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]FASTA Add to basket

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

« 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 EGLRPRPKAK

Show »

Length:1,240

Mass (Da):134,617

Checksum:ⁱ3D8D4B942072E19E

GO

Isoform 3 (identifier: Q27J81-3) [UniParc]FASTA Add to basket

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

« 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 
INAVILGPED LRARTQLRNE FIGLQLLDVL ARLR

Show »

Length:234

Mass (Da):25,954

Checksum:ⁱ76C59D96787B51E7

GO

Computationally mapped potential isoform sequencesⁱ

There are 28 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name	Protein names	Gene names	Length	Annotation

	A0A087X118	A0A087X118_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,048	Annotation score:
	A0A6Q8PHA2	A0A6Q8PHA2_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,281	Annotation score:
	A0A6Q8PF29	A0A6Q8PF29_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,133	Annotation score:
	A0A6Q8PF44	A0A6Q8PF44_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,222	Annotation score:
	A0A6Q8PFW4	A0A6Q8PFW4_HUMAN	Inverted formin-2 Inverted formin-2	INF2	981	Annotation score:
	A0A6Q8PGC7	A0A6Q8PGC7_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,051	Annotation score:
	A0A6Q8PGN3	A0A6Q8PGN3_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,241	Annotation score:
	A0A6Q8PH25	A0A6Q8PH25_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,160	Annotation score:
	A0A6Q8PH71	A0A6Q8PH71_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,255	Annotation score:
	A0A6Q8PHG2	A0A6Q8PHG2_HUMAN	Inverted formin-2 Inverted formin-2	INF2	1,250	Annotation score:
There are more potential isoformsShow all

Sequence cautionⁱ

The sequence AAH08756 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

The sequence AAH64828 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

The sequence ABD59343 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

The sequence ABD59344 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

The sequence ABD59345 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

The sequence BAB15224 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated

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

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	832	N → S in BAB15224 (PubMed:14702039).Curated	1
Sequence conflictⁱ	880	D → V in BAB15224 (PubMed:14702039).Curated	1
Sequence conflictⁱ	1129	Q → K in CAH10628 (PubMed:17974005).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_063075	13	A → T in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs201383094EnsemblClinVar.	1
Natural variantⁱVAR_063076	42	L → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606880EnsemblClinVar.	1
Natural variantⁱVAR_073984	57	L → R in CMTDIE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1595163736EnsemblClinVar.	1
Natural variantⁱVAR_073985	68	F → S in CMTDIE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1595163801EnsemblClinVar.	1
Natural variantⁱVAR_073986	69 – 72	Missing in CMTDIE. 1 Publication	4
Natural variantⁱVAR_079801	73	G → S in FSGS5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566777560EnsemblClinVar.	1
Natural variantⁱVAR_072229	76	L → P in FSGS5. 1 Publication	1
Natural variantⁱVAR_073987	77	L → R in CMTDIE; de novo mutation; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1595163851EnsemblClinVar.	1
Natural variantⁱVAR_079802	81	L → P in FSGS5. 1 Publication	1
Natural variantⁱVAR_079803	81	Missing in FSGS5; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_067589	104	C → F in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907035EnsemblClinVar.	1
Natural variantⁱVAR_067590	104	C → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907034EnsemblClinVar.	1
Natural variantⁱVAR_067591	104	C → W in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907036EnsemblClinVar.	1
Natural variantⁱVAR_073988	105	V → G in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs1555373363EnsemblClinVar.	1
Natural variantⁱVAR_073989	114	G → D1 PublicationCorresponds to variant dbSNP:rs1595164091EnsemblClinVar.	1
Natural variantⁱVAR_067592	128	L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907037EnsemblClinVar.	1
Natural variantⁱVAR_073990	132	L → P in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.	1
Natural variantⁱVAR_067593	132	L → R in CMTDIE. 1 PublicationCorresponds to variant dbSNP:rs387907038EnsemblClinVar.	1
Natural variantⁱVAR_079804	151	C → R in FSGS5. 1 Publication	1
Natural variantⁱVAR_079805	158	H → D in FSGS5. 1 Publication	1
Natural variantⁱVAR_073991	162	L → R in FSGS5. 1 Publication	1
Natural variantⁱVAR_067594	164 – 166	Missing in CMTDIE. 1 Publication	3
Natural variantⁱVAR_073992	168	Missing in FSGS5. 1 Publication	1
Natural variantⁱVAR_079806	177	R → C in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs1595166085EnsemblClinVar.	1
Natural variantⁱVAR_072230	177	R → H in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs1566778651EnsemblClinVar.	1
Natural variantⁱVAR_079807	181	V → G in FSGS5; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_072231	183	N → K1 Publication	1
Natural variantⁱVAR_063077	184	E → K in CMTDIE and FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs1566778676EnsemblClinVar.	1
Natural variantⁱVAR_072232	184	E → Q in FSGS5. 1 Publication	1
Natural variantⁱVAR_063078	186	S → P in FSGS5. 2 PublicationsCorresponds to variant dbSNP:rs267606877EnsemblClinVar.	1
Natural variantⁱVAR_072233	193	Y → H in FSGS5. 1 Publication	1
Natural variantⁱVAR_063079	198	L → R in FSGS5. 3 Publications	1
Natural variantⁱVAR_072234	202	N → D in FSGS5. 1 Publication	1
Natural variantⁱVAR_072235	203	A → D in FSGS5. 1 PublicationCorresponds to variant dbSNP:rs1595166203EnsemblClinVar.	1
Natural variantⁱVAR_072236	214	R → C in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs912928648EnsemblClinVar.	1
Natural variantⁱVAR_063080	214	R → H in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606879EnsemblClinVar.	1
Natural variantⁱVAR_063081	218	R → Q in FSGS5. 5 PublicationsCorresponds to variant dbSNP:rs267607183EnsemblClinVar.	1
Natural variantⁱVAR_063082	218	R → W in FSGS5. 3 PublicationsCorresponds to variant dbSNP:rs267606878EnsemblClinVar.	1
Natural variantⁱVAR_063083	220	E → K in FSGS5. 4 PublicationsCorresponds to variant dbSNP:rs530391015EnsemblClinVar.	1
Natural variantⁱVAR_068845	245	L → P in FSGS5. 1 Publication	1
Natural variantⁱVAR_072237	547	G → D1 PublicationCorresponds to variant dbSNP:rs376451593EnsemblClinVar.	1
Natural variantⁱVAR_037117	1096	P → S1 PublicationCorresponds to variant dbSNP:rs34251364EnsemblClinVar.	1
Natural variantⁱVAR_037118	1135	T → M. Corresponds to variant dbSNP:rs3803311EnsemblClinVar.	1
Natural variantⁱVAR_072238	1160	G → S1 PublicationCorresponds to variant dbSNP:rs9672065EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_029360	235 – 1249	Missing in isoform 3. 2 PublicationsAdd BLAST		1015
Alternative sequenceⁱVSP_029361	1232 – 1249	EVPPD…LCVIQ → GLRPRPKAK in isoform 2. 3 PublicationsAdd BLAST		18

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS41999.1 [Q27J81-3] CCDS45173.1 [Q27J81-2] CCDS9989.2 [Q27J81-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001026884.3, NM_001031714.3 [Q27J81-2] NP_071934.3, NM_022489.3 [Q27J81-1] NP_116103.1, NM_032714.2 [Q27J81-3]

Genome annotation databases

Ensemblⁱ	ENST00000330634; ENSP00000376406; ENSG00000203485 [Q27J81-2] ENST00000392634; ENSP00000376410; ENSG00000203485 ENST00000398337; ENSP00000381380; ENSG00000203485 [Q27J81-3]
GeneIDⁱ	64423
KEGGⁱ	hsa:64423
MANE-Selectⁱ	ENST00000392634.9; ENSP00000376410.4; NM_022489.4; NP_071934.3
UCSC genome browser More...UCSCⁱ	uc001yoy.5, human [Q27J81-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q27J81	Inverted formin-2		HUMAN		1281	UniRef100_Q27J81
Uncharacterized protein DKFZp468G086		PONAB		529
Inverted formin-2 (Fragment)		HUMAN		130
Isoform 3 of Inverted formin-2		HUMAN		234
Inverted formin-2 (Fragment)		HUMAN		717

Protein	Similar proteins		Species	Score	Length	Source
Q27J81	Inverted formin-2		HUMAN		1281	UniRef90_Q27J81
Uncharacterized protein DKFZp468G086		PONAB		529
Inverted formin 2		MACMU		1229
Inverted formin, FH2 and WH2 domain containing		RHIRO		1222
Inverted formin 2		MACNE		1212
+28

Protein	Similar proteins		Species	Score	Length	Source
Q27J81	Inverted formin-2		MOUSE		1273	UniRef50_Q27J81
Inverted formin-2		HUMAN		1281
Uncharacterized protein DKFZp468G086		PONAB		529
Inverted formin 2		MACMU		1229
Inverted formin, FH2 and WH2 domain containing		RHIRO		1222
+374

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
CCDSⁱ	CCDS41999.1 [Q27J81-3] CCDS45173.1 [Q27J81-2] CCDS9989.2 [Q27J81-1]
RefSeqⁱ	NP_001026884.3, NM_001031714.3 [Q27J81-2] NP_071934.3, NM_022489.3 [Q27J81-1] NP_116103.1, NM_032714.2 [Q27J81-3]

3D structure databases

SMRⁱ	Q27J81
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	122172, 254 interactors
IntActⁱ	Q27J81, 60 interactors
MINTⁱ	Q27J81
STRINGⁱ	9606.ENSP00000376410

PTM databases

GlyGenⁱ	Q27J81, 1 site, 1 O-linked glycan (1 site)
iPTMnetⁱ	Q27J81
MetOSiteⁱ	Q27J81
PhosphoSitePlusⁱ	Q27J81
SwissPalmⁱ	Q27J81

Genetic variation databases

BioMutaⁱ	INF2
DMDMⁱ	166215588

Proteomic databases

EPDⁱ	Q27J81
jPOSTⁱ	Q27J81
MassIVEⁱ	Q27J81
MaxQBⁱ	Q27J81
PaxDbⁱ	Q27J81
PeptideAtlasⁱ	Q27J81
PRIDEⁱ	Q27J81
ProteomicsDBⁱ	61269 [Q27J81-1] 61270 [Q27J81-2] 61271 [Q27J81-3]

Protocols and materials databases

Antibodypediaⁱ	14838, 182 antibodies from 28 providers
The DNASU plasmid repository More...DNASUⁱ	64423

Genome annotation databases

Ensemblⁱ	ENST00000330634; ENSP00000376406; ENSG00000203485 [Q27J81-2] ENST00000392634; ENSP00000376410; ENSG00000203485 ENST00000398337; ENSP00000381380; ENSG00000203485 [Q27J81-3]
GeneIDⁱ	64423
KEGGⁱ	hsa:64423
MANE-Selectⁱ	ENST00000392634.9; ENSP00000376410.4; NM_022489.4; NP_071934.3
UCSCⁱ	uc001yoy.5, human [Q27J81-1]

Organism-specific databases

CTDⁱ	64423
DisGeNETⁱ	64423
GeneCardsⁱ	INF2
GeneReviewsⁱ	INF2
HGNCⁱ	HGNC:23791, INF2
HPAⁱ	ENSG00000203485, Low tissue specificity
MalaCardsⁱ	INF2
MIMⁱ	610982, gene 613237, phenotype 614455, phenotype
neXtProtⁱ	NX_Q27J81
OpenTargetsⁱ	ENSG00000203485
Orphanetⁱ	93114, Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 656, Genetic steroid-resistant nephrotic syndrome
PharmGKBⁱ	PA162392025
VEuPathDBⁱ	HostDB:ENSG00000203485
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1922, Eukaryota
GeneTreeⁱ	ENSGT00940000155691
HOGENOMⁱ	CLU_999410_0_0_1
InParanoidⁱ	Q27J81
OMAⁱ	DHYKMVC
OrthoDBⁱ	1204639at2759
PhylomeDBⁱ	Q27J81
TreeFamⁱ	TF326300

Enzyme and pathway databases

PathwayCommonsⁱ	Q27J81
SignaLinkⁱ	Q27J81

Miscellaneous databases

BioGRID-ORCSⁱ	64423, 5 hits in 1047 CRISPR screens
ChiTaRSⁱ	INF2, human
GeneWikiⁱ	INF2
GenomeRNAiⁱ	64423
Pharosⁱ	Q27J81, Tbio
Protein Ontology More...PROⁱ	PR:Q27J81
RNActⁱ	Q27J81, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000203485, Expressed in tibial nerve and 221 other tissues
ExpressionAtlasⁱ	Q27J81, baseline and differential
Genevisibleⁱ	Q27J81, HS

Family and domain databases

Gene3Dⁱ	1.20.58.2220, 1 hit 1.25.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR015425, FH2_Formin IPR042201, FH2_Formin_sf IPR010472, FH3_dom IPR014768, GBD/FH3_dom IPR010473, GTPase-bd IPR027649, Inf2 IPR003124, WH2_dom
PANTHERⁱ	PTHR46345, PTHR46345, 2 hits
Pfamⁱ	View protein in Pfam PF06367, Drf_FH3, 1 hit PF06371, Drf_GBD, 1 hit PF02181, FH2, 1 hit PF02205, WH2, 1 hit
SMARTⁱ	View protein in SMART SM01139, Drf_FH3, 1 hit SM01140, Drf_GBD, 1 hit SM00498, FH2, 1 hit
SUPFAMⁱ	SSF48371, SSF48371, 1 hit
PROSITEⁱ	View protein in PROSITE PS51444, FH2, 1 hit PS51232, GBD_FH3, 1 hit PS51082, WH2, 1 hit
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	INF2_HUMAN
Accessionⁱ	Q27J81Primary (citable) accession number: Q27J81 Secondary accession number(s): Q27J83 Q9H6N1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
	Last sequence update:	January 15, 2008
	Last modified:	February 23, 2022
	This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Direct protein sequencing, Reference proteome

Documents

Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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UniProtKB - Q27J81 (INF2_HUMAN)

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Inverted formin-2

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Keywords - PTMi

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ