FARP2 Gene (Protein Coding)

FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2

GC02P241357
GIFtS:
41
See more...

Aliases for FARP2 Gene

Aliases for FARP2 Gene

  • FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2 2 3 5
  • PLEKHC3 2 3 4
  • FIR 2 3 4
  • FERM, ARHGEF And Pleckstrin Domain-Containing Protein 2 3 4
  • FERM, RhoGEF And Pleckstrin Domain-Containing Protein 2 3 4
  • Pleckstrin Homology Domain-Containing Family C Member 3 3 4
  • FERM, RhoGEF And Pleckstrin Domain Protein 2 2 3
  • PH Domain-Containing Family C Member 3 3 4
  • KIAA0793 2 4
  • FRG 2 3
  • FERM Domain Including RhoGEF 3
  • FERM Domain-Including RhoGEF 4
  • FGD1-Related Cdc42-GEF 3
  • FARP2 5

External Ids for FARP2 Gene

Previous GeneCards Identifiers for FARP2 Gene

  • GC02M239859
  • GC02P242315
  • GC02P242616
  • GC02P242015
  • GC02P234051

Summaries for FARP2 Gene

GeneCards Summary for FARP2 Gene

FARP2 (FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2) is a Protein Coding gene. Diseases associated with FARP2 include Aarskog-Scott Syndrome and Chromosome 2Q37 Deletion Syndrome. Among its related pathways are Ras signaling pathway and Adherens junction. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is FARP1.

UniProtKB/Swiss-Prot Summary for FARP2 Gene

  • Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity).

Gene Wiki entry for FARP2 Gene

Additional gene information for FARP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FARP2 Gene

Genomics for FARP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FARP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FARP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FARP2

Top Transcription factor binding sites by QIAGEN in the FARP2 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • HOXA3
  • Lmo2

Genomic Locations for FARP2 Gene

Latest Assembly
chr2:241,356,285-241,494,841
(GRCh38/hg38)
Size:
138,557 bases
Orientation:
Plus strand

Previous Assembly
chr2:242,295,700-242,434,256
(GRCh37/hg19 by Entrez Gene)
Size:
138,557 bases
Orientation:
Plus strand

chr2:242,295,658-242,434,256
(GRCh37/hg19 by Ensembl)
Size:
138,599 bases
Orientation:
Plus strand

Genomic View for FARP2 Gene

Genes around FARP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FARP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FARP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FARP2 Gene

Proteins for FARP2 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for FARP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94887-FARP2_HUMAN
    Recommended name:
    FERM, ARHGEF and pleckstrin domain-containing protein 2
    Protein Accession:
    O94887
    Secondary Accessions:
    • B7Z6J8
    • F5GZ84
    • Q53QM5
    • Q8WU27
    • Q9UFE7

    Protein attributes for FARP2 Gene

    Size:
    1054 amino acids
    Molecular mass:
    119888 Da
    Quaternary structure:
    • Interacts with PLXNA1. Interaction with PLXNA1 or PIP5K1C lowers its guanine nucleotide exchange activity. Dissociates from PLXNA1 when SEMA3A binds to the receptor. Interacts with PIP5K1C via its FERM domain. The interaction with PIP5K1C is enhanced by SEMA3A binding. Interacts with RAC1 (By similarity).
    SequenceCaution:
    • Sequence=BAA34513.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FARP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FARP2 Gene

Protein Expression for FARP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FARP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FARP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FARP2
  • Boster Bio Antibodies for FARP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for FARP2

No data available for DME Specific Peptides for FARP2 Gene

Domains & Families for FARP2 Gene

Gene Families for FARP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FARP2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
  • Band 4.1 domain
ProtoNet:

Suggested Antigen Peptide Sequences for FARP2 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family C member 3 (FARP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94887

UniProtKB/Swiss-Prot:

FARP2_HUMAN :
  • Intramolecular interaction between the DH domain and the PH domains can stabilize the protein in an autoinhibited conformation.
Domain:
  • Intramolecular interaction between the DH domain and the PH domains can stabilize the protein in an autoinhibited conformation.
genes like me logo Genes that share domains with FARP2: view

Function for FARP2 Gene

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  6. Cell Lines for research

Molecular function for FARP2 Gene

UniProtKB/Swiss-Prot Function:
Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity).

Phenotypes From GWAS Catalog for FARP2 Gene

Gene Ontology (GO) - Molecular Function for FARP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,ISS --
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with FARP2: view
genes like me logo Genes that share phenotypes with FARP2: view

Animal Models for FARP2 Gene

MGI Knock Outs for FARP2:
  • Farp2 Farp2<tm1a(KOMP)Wtsi>
  • Farp2 Farp2<tm1Akum>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FARP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FARP2 Gene

Localization for FARP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FARP2 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FARP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12351724
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FARP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FARP2 Gene

Pathways & Interactions for FARP2 Gene

PathCards logo

SuperPathways for FARP2 Gene

genes like me logo Genes that share pathways with FARP2: view

Pathways by source for FARP2 Gene

2 KEGG pathways for FARP2 Gene
2 GeneGo (Thomson Reuters) pathways for FARP2 Gene
  • Cytoskeleton remodeling FAK signaling
  • Development Endothelin-1/EDNRA signaling
1 Qiagen pathway for FARP2 Gene
  • Epithelial Adherens Junctions

SIGNOR curated interactions for FARP2 Gene

Activates:

Gene Ontology (GO) - Biological Process for FARP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion ISS --
GO:0016322 neuron remodeling IDA 12351724
GO:0016601 Rac protein signal transduction IDA 12351724
GO:0022405 hair cycle process IEA --
GO:0030316 osteoclast differentiation ISS --
genes like me logo Genes that share ontologies with FARP2: view

Drugs & Compounds for FARP2 Gene

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(4) Drugs for FARP2 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 441
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with FARP2: view

Transcripts for FARP2 Gene

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mRNA/cDNA for FARP2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FARP2

Alternative Splicing Database (ASD) splice patterns (SP) for FARP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a ·
SP1: - - - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: - -

ExUns: 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for FARP2 Gene

GeneLoc Exon Structure for
FARP2

Expression for FARP2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FARP2 Gene

mRNA expression in normal human tissues for FARP2 Gene
mRNA expression by BioGPS for FARP2 GenemRNA expression by GTEx for FARP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FARP2 Gene

This gene is overexpressed in Synovial fluid (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FARP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FARP2

SOURCE GeneReport for Unigene cluster for FARP2 Gene:

Hs.726316

Evidence on tissue expression from TISSUES for FARP2 Gene

  • Nervous system(4.8)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with FARP2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FARP2 Gene

Orthologs for FARP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FARP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FARP2 30 31
  • 96.71 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Farp2 30 17 31
  • 83.32 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FARP2 30 31
  • 82.83 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Farp2 30
  • 82.55 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia FARP2 31
  • 74 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FARP2 31
  • 72 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FARP2 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FARP2 30 31
  • 73.18 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FARP2 31
  • 71 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii farp2 30 31
  • 67.77 (n)
 OneToOne
wufc23d05 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Cdep 30 31
  • 52.77 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001287 30
  • 52.61 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8849 31
  • 44 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3850 30
Species where no ortholog for FARP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FARP2 Gene

ENSEMBL:
Gene Tree for FARP2 (if available)
TreeFam:
Gene Tree for FARP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FARP2: view image

Paralogs for FARP2 Gene

Paralogs for FARP2 Gene

(15) SIMAP similar genes for FARP2 Gene using alignment to 8 proteins:

  • FARP2_HUMAN
  • C9JVQ5_HUMAN
  • C9JWM9_HUMAN
  • F5GZ84_HUMAN
  • H7C210_HUMAN
  • H7C3E4_HUMAN
  • H7C3M7_HUMAN
  • H7C447_HUMAN
genes like me logo Genes that share paralogs with FARP2: view

Variants for FARP2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FARP2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs114094334 Benign: not provided 241,441,561(+) C/T
NM_014808.4(FARP2):c.1411+5C>T 		INTRON
rs137904208 Likely Benign: not provided 241,493,424(+) G/A
NM_014808.4(FARP2):c.3027G>A (p.Glu1009=) 		SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs138549813 Likely Benign: not provided 241,413,332(+) G/A
NM_014808.4(FARP2):c.534G>A (p.Thr178=) 		SYNONYMOUS
rs138817932 Benign: not provided 241,491,173(+) C/T
NM_014808.4(FARP2):c.2617C>T (p.Pro873Ser) 		MISSENSE
rs138838419 Likely Benign: not provided 241,463,442(+) C/T
NM_014808.4(FARP2):c.1785C>T (p.Arg595=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FARP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FARP2 Gene

Variant ID Type Subtype PubMed ID
esv25720 CNV loss 19812545
esv2662745 CNV deletion 23128226
esv2721996 CNV deletion 23290073
esv2721997 CNV deletion 23290073
esv2721998 CNV deletion 23290073
esv2721999 CNV deletion 23290073
esv2722000 CNV deletion 23290073
esv2722001 CNV deletion 23290073
esv2722002 CNV deletion 23290073
esv2722003 CNV deletion 23290073
esv2722004 CNV deletion 23290073
esv2759120 CNV loss 17122850
esv3326782 CNV insertion 20981092
esv3561309 CNV deletion 23714750
esv3594828 CNV gain 21293372
esv3594830 CNV gain 21293372
esv3594832 CNV gain 21293372
esv3594833 CNV gain 21293372
nsv1112343 CNV deletion 24896259
nsv3244 CNV deletion 18451855

Variation tolerance for FARP2 Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.70; 86.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FARP2 Gene

Human Gene Mutation Database (HGMD)
FARP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FARP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FARP2 Gene

Disorders for FARP2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FARP2 Gene - From: COP

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • aas
chromosome 2q37 deletion syndrome
  • albright hereditary osteodystrophy-like syndrome
congenital nystagmus
  • nystagmus congenital
brachydactyly, type a3
  • bda3
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
- elite association - COSMIC cancer census association via MalaCards
Search FARP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FARP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FARP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FARP2 Gene

Publications for FARP2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  3. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. (PMID: 20062064) Crowther-Swanepoel D … Houlston RS (Nature genetics 2010) 3 41
  4. Inherited genetic susceptibility to monoclonal B-cell lymphocytosis. (PMID: 20855867) Crowther-Swanepoel D … Houlston RS (Blood 2010) 3 41
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

ExternalLinks

View latest publications for FARP2 gene in Mastermind

Products for FARP2 Gene

  • Boster Bio Antibodies for FARP2
  • Boster Bio ELISA Kits for FARP2

Sources for FARP2 Gene