• Gene id: 9855

Gene Summary

• Gene Symbol: FARP2   Gene   UCSC   Ensembl
• Aliases: FIR, FRG, PLEKHC3
• Gene name: FERM, ARH/RhoGEF and pleckstrin domain protein 2
• Alternate names: FERM, ARHGEF and pleckstrin domain-containing protein 2, FERM domain including RhoGEF, FERM, RhoGEF and pleckstrin domain protein 2, FERM, RhoGEF and pleckstrin domain-containing protein 2, FGD1-related Cdc42-GEF, PH domain-containing family C member 3, pleckst,
• Gene location: 2q37.3 (241356284: 241494840)     Exons: 35     NC_000002.12
• OMIM: 601368

SNPs

rs16968382

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.76586021A>C
NC_000015.9   g.76878362A>C|SEQ=[A/C]|GENE=SCAPER
MIR3713   100500855

Protein Summary

• Protein general information: O94887  
  • Name: FERM, ARHGEF and pleckstrin domain containing protein 2 (FERM domain including RhoGEF) (FIR) (FERM, RhoGEF and pleckstrin domain containing protein 2) (Pleckstrin homology domain containing family C member 3) (PH domain containing family C member 3)
  • Length: 1054  
  • Mass: 119888
• Sequence:

  MGEIEGTYRVLQTAGMRLGAQTPVGVSTLEPGQTLLPRMQEKHLHLRVKLLDNTMEIFDIEPKCDGQVLLTQVWK
  RLNLVECDYFGMEFQNTQSYWIWLEPMKPIIRQIRRPKNVVLRLAVKFFPPDPGQLQEEYTRYLFALQLKRDLLE
  ERLTCADTTAALLTSHLLQSEIGDYDETLDREHLKVNEYLPGQQHCLEKILEFHQKHVGQTPAESDFQVLEIARK
  LEMYGIRFHMASDREGTKIQLAVSHMGVLVFQGTTKINTFNWSKVRKLSFKRKRFLIKLHPEVHGPYQDTLEFLL
  GSRDECKNFWKICVEYHTFFRLLDQPKPKAKAVFFSRGSSFRYSGRTQKQLVDYFKDSGMKRIPYERRHSKTHTS
  VRALTADLPKQSISFPEGLRTPASPSSANAFYSLSPSTLVPSGLPEFKDSSSSLTDPQVSYVKSPAAERRSGAVA
  GGPDTPSAQPLGPPALQPGPGLSTKSPQPSPSSRKSPLSLSPAFQVPLGPAEQGSSPLLSPVLSDAGGAGMDCEE
  PRHKRVPADEAYFIVKEILATERTYLKDLEVITVWFRSAVVKEDAMPATLMTLLFSNIDPIYEFHRGFLREVEQR
  LALWEGPSKAHTKGSHQRIGDILLRNMRQLKEFTSYFQRHDEVLTELEKATKRCKKLEAVYKEFELQKVCYLPLN
  TFLLKPIQRLLHYRLLLRRLCGHYSPGHHDYADCHDALKAITEVTTTLQHILIRLENLQKLTELQRDLVGIENLI
  APGREFIREGCLHKLTKKGLQQRMFFLFSDMLLYTSKGVAGTSHFRIRGLLPLQGMLVEESDNEWSVPHCFTIYA
  AQKTIVVAASTRLEKEKWMLDLNSAIQAAKSGGDTAPALPGRTVCTRPPRSPNEVSLEQESEDDARGVRSSLEGH
  GQHRANTTMHVCWYRNTSVSRADHSAAVENQLSGYLLRKFKNSHGWQKLWVVFTNFCLFFYKTHQDDYPLASLPL
  LGYSVSIPREADGIHKDYVFKLQFKSHVYFFRAESKYTFERWMEVIQGASSSAGRAPSIVQDGPQPSSGLEGMVR
  GKEE

• Structural information:
  • Protein Domains: (44..32-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (535..72-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (755..85-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (92-)
  • Interpro: IPR019749  IPR035899  IPR000219  IPR000798  IPR041788   IPR014847  IPR014352  IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR001849  IPR029071  
  • Prosite: PS50010 PS00660 PS50057 PS50003
  • CDD: cd14473 cd13193 cd00160
  • STRING: ENSP00000264042
• Other Databases: GeneCards:  FARP2  Malacards:  FARP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0071800	podosome assembly	ISS	biological process
GO:0033623	regulation of integrin activation	ISS	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0071526	semaphorin-plexin signaling pathway	ISS	biological process
GO:0031532	actin cytoskeleton reorganization	ISS	biological process
GO:0030316	osteoclast differentiation	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016601	Rac protein signal transduction	IDA	biological process
GO:0016322	neuron remodeling	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0071800	podosome assembly	IEA	biological process
GO:0033623	regulation of integrin activation	IEA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0071526	semaphorin-plexin signaling pathway	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0022405	hair cycle process	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04520	Adherens junction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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			28 men with azoospermia	Male infertility	Microarray