Property Summary

NCBI Gene PubMed Count 32
Grant Count 24
R01 Count 20
Funding $3,211,203.87
PubMed Score 178.07
PubTator Score 92.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
psoriasis 1.100 0.002
osteosarcoma 1.182 0.021
group 4 medulloblastoma -1.600 0.000
medulloblastoma, large-cell -1.300 0.001
diabetes mellitus 2.000 0.001
atypical teratoid/rhabdoid tumor -1.100 0.000
lung adenocarcinoma 1.400 0.000
COPD -1.100 0.050

Gene RIF (23)

PMID Text
26305500 The authors propose Spire1C isoform cooperates with INF2 to regulate actin assembly at endoplasmic reticulum-mitochondrial contacts.
26124273 Assembly and turnover of short actin filaments by the formin INF2 and profilin.
26039629 Report novel mutations in the inverted formin 2 gene of Chinese families contributing to focal segmental glomerulosclerosis.
25165188 INF2 mutations are associated with focal segmental glomerulosclerosis.
24174593 this study identifed three novel mutations of INF likely efect hereditary neuropathy with glomerulopathy.
23921379 actin monomer binding to the DAD of INF2 competes with the DID/DAD interaction, thereby activating actin polymerization
23847988 INF2 mutation was detected both father and his son
23620398 In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling.
23521651 This study showed that INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.
23349293 study found actin polymerization through ER-localized INF2 was required for efficient mitochondrial fission; INF2-induced actin filaments may drive initial mitochondrial constriction, which allows Drp1-driven secondary constriction
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AA Sequence

MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGSDGGWMVQFLE      1 - 70
QSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILSNQGYVRQLSQALDTSNVMVK     71 - 140
KQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSIVMNELSGSDNVPYVVTLLSVINAVILGPED    141 - 210
LRARTQLRNEFIGLQLLDVLARLRDLEDADLLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFH    211 - 280
KVSCSPVSAQLLSVLQGLLHLEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRP    281 - 350
SPLVKAHKSVQANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST    351 - 420
PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPLPGSCEFLPPP    421 - 490
PPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVAQVDHGLGSAWVPSHRRVNPP    491 - 560
TLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFSSIERLFSFPAAKPKEPTMVAPRARKEPKEI    561 - 630
TFLDAKKSLNLNIFLKQFKCSNEEVAAMIRAGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLAS    631 - 700
ADHFYLLLLAIPCYQLRIECMLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNY    701 - 770
GSHTGDADGFKISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA    771 - 840
SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCEDAQQLSLEDTF    841 - 910
STMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPVRKGPGKQEEVCVIDALLADI    911 - 980
RKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPAGDPVGSTRCPASEPGLDATTASESRGWDLV    981 - 1050
DAVTPGPQPTLEQLEEGGPRPLERRSSWYVDASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQ   1051 - 1120
PPAAGSSRQDAKDPTSLLGVLQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLD   1121 - 1190
KSFSEDAVTDSSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ              1191 - 1249
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Text Mined References (48)

PMID Year Title
26305500 2015 A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division.
26124273 2015 Assembly and turnover of short actin filaments by the formin INF2 and profilin.
26039629 2015 Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
25676889 2015 Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
25165188 2014 Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
24750328 2014 A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24174593 2013 De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.
23921379 2013 Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction.
23847988 2013 [Case report; A case of familial focal segmental glomerulosclerosis with a mutation in the formin INF2].
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