• Gene id: 64423

Gene Summary

• Gene Symbol: INF2   Gene   UCSC   Ensembl
• Aliases: C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
• Gene name: inverted formin 2
• Alternate names: inverted formin-2, HBEAG-binding protein 2 binding protein C, HBEBP2-binding protein C, inverted formin, FH2 and WH2 domain containing,
• Gene location: 14q32.33 (104689605: 104722534)     Exons: 23     NC_000014.9
• Gene summary(Entrez): This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that t
• OMIM: 610982

Protein Summary

• Protein general information: Q27J81  
  • Name: Inverted formin 2 (HBEBP2 binding protein C)
  • Length: 1249  
  • Mass: 135624
  • Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells. {ECO
• Sequence:

  MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGSDGGWMVQFLEQSGLD
  LLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILSNQGYVRQLSQALDTSNVMVKKQVFELLAAL
  CIYSPEGHVLTLDALDHYKTVCSQQYRFSIVMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQ
  LLDVLARLRDLEDADLLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
  LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSVQANLDQSQRGSSPQN
  TTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQASTPPPPPPPPLLPGSSAEPPPPPPPPPLPSVG
  AKALPTAPPPPPLPGLGAMAPPAPPLPPPLPGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCT
  CSPPVAGGMEEVIVAQVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
  SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIRAGDTTKFDVEVLKQL
  LKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIECMLLCEGAAAVLDMVRPKAQLVLAACESLLT
  SRQLPIFCQLILRIGNFLNYGSHTGDADGFKISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQP
  SQAAGINLEIIRSEASSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
  AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPVRKGPGKQEEVCVIDA
  LLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPAGDPVGSTRCPASEPGLDATTASESRGWDLV
  DAVTPGPQPTLEQLEEGGPRPLERRSSWYVDASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAG
  SSRQDAKDPTSLLGVLQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
  SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ

• Structural information:
  • Protein Domains: (2..33-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (554..94-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (974..98-)
    (/note="WH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00406"-)
  • Interpro: IPR011989  IPR016024  IPR015425  IPR042201  IPR010472   IPR014768  IPR010473  IPR027649  IPR003124  
  • Prosite: PS51444 PS51232 PS51082
  • STRING: ENSP00000376410
• Other Databases: GeneCards:  INF2  Malacards:  INF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0090140	regulation of mitochondrial fission	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Focal segmental glomerulosclerosis	KEGG:H00626
Charcot-Marie-Tooth disease	KEGG:H00264
Focal segmental glomerulosclerosis	KEGG:H00626
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R