Human Gene FARP2 (uc002wbi.2) Description and Page Index
  Description: Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:242,295,664-242,434,256 Size: 138,593 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr2:242,312,523-242,433,540 Size: 121,018 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:242,295,664-242,434,256)mRNA (may differ from genome)Protein (1054 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: FARP2_HUMAN
DESCRIPTION: RecName: Full=FERM, RhoGEF and pleckstrin domain-containing protein 2; AltName: Full=FERM domain including RhoGEF; Short=FIR; AltName: Full=Pleckstrin homology domain-containing family C member 3; Short=PH domain-containing family C member 3;
FUNCTION: Rho-guanine nucleotide exchange factor that activates RAC1. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton (By similarity).
SUBUNIT: 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 (By similarity).
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 2 PH domains.
SEQUENCE CAUTION: Sequence=BAA34513.2; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FARP2
CDC HuGE Published Literature: FARP2
Positive Disease Associations: Chronic lymphocytic leukemia , Leukemia, Lymphocytic, Chronic, B-Cell
Related Studies:
  1. Chronic lymphocytic leukemia
    Crowther-Swanepoel ,et al. 2010, Common variants at 2q37.3, 8q24.21, 15q21.3 abd 16q24.1 influence chronic lymphocytic leukemia risk, Nature genetics 2010 42- 2 : 132-6. [PubMed 20062064]
  2. Leukemia, Lymphocytic, Chronic, B-Cell
    Dalemari Crowther-Swanepoel et al. Nature genetics 2010, Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk., Nature genetics. [PubMed 20062064]

-  MalaCards Disease Associations
  MalaCards Gene Search: FARP2
Diseases sorted by gene-association score: pseudohypoparathyroidism ia (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.87 RPKM in Testis
Total median expression: 142.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -81.70164-0.498 Picture PostScript Text
3' UTR -295.45716-0.413 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR000219 - DH-domain
IPR000798 - Ez/rad/moesin
IPR014847 - FERM-adjacent
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF00373 - FERM central domain
PF00621 - RhoGEF domain
PF08736 - FERM adjacent (FA)
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain

SCOP Domains:
47031 - Second domain of FERM
48065 - DBL homology domain (DH-domain)
49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
50729 - PH domain-like
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on O94887
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0008092 cytoskeletal protein binding
GO:0030676 Rac guanyl-nucleotide exchange factor activity

Biological Process:
GO:0007155 cell adhesion
GO:0016322 neuron remodeling
GO:0016601 Rac protein signal transduction
GO:0022405 hair cycle process
GO:0030316 osteoclast differentiation
GO:0031532 actin cytoskeleton reorganization
GO:0033623 regulation of integrin activation
GO:0035023 regulation of Rho protein signal transduction
GO:0071526 semaphorin-plexin signaling pathway
GO:0071800 podosome assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK300435 - Homo sapiens cDNA FLJ61617 complete cds, highly similar to FERM, RhoGEF and pleckstrin domain-containing protein 2.
AB018336 - Homo sapiens KIAA0793 mRNA for KIAA0793 protein.
BC021301 - Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2, mRNA (cDNA clone MGC:29593 IMAGE:5013180), complete cds.
JF432117 - Synthetic construct Homo sapiens clone IMAGE:100073256 FERM, RhoGEF and pleckstrin domain protein 2 (FARP2) gene, encodes complete protein.
CU676916 - Synthetic construct Homo sapiens gateway clone IMAGE:100018384 5' read FARP2 mRNA.
KJ902031 - Synthetic construct Homo sapiens clone ccsbBroadEn_11425 FARP2 gene, encodes complete protein.
JD141708 - Sequence 122732 from Patent EP1572962.
AK127510 - Homo sapiens cDNA FLJ45603 fis, clone BRTHA3021708, moderately similar to Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1).
AL122052 - Homo sapiens mRNA; cDNA DKFZp434M2221 (from clone DKFZp434M2221).
JD207378 - Sequence 188402 from Patent EP1572962.
JD539608 - Sequence 520632 from Patent EP1572962.
JD058733 - Sequence 39757 from Patent EP1572962.
JD342609 - Sequence 323633 from Patent EP1572962.
JD333131 - Sequence 314155 from Patent EP1572962.
JD386710 - Sequence 367734 from Patent EP1572962.
JD115739 - Sequence 96763 from Patent EP1572962.
JD431140 - Sequence 412164 from Patent EP1572962.
JD205832 - Sequence 186856 from Patent EP1572962.
JD450161 - Sequence 431185 from Patent EP1572962.
JD524577 - Sequence 505601 from Patent EP1572962.
JD264858 - Sequence 245882 from Patent EP1572962.
JD173191 - Sequence 154215 from Patent EP1572962.
JD168965 - Sequence 149989 from Patent EP1572962.
JD484767 - Sequence 465791 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04520 - Adherens junction

Reactome (by CSHL, EBI, and GO)

Protein O94887 (Reactome details) participates in the following event(s):

R-HSA-399936 Inhibition of integrin activation by sequestering PIP5KIgamma
R-HSA-399942 Plexin-A1-4 binds NRP1
R-HSA-399933 Sema3A binds Nrp-1 bound to PlexinA
R-HSA-399938 Activation of Rac1 by FARP2
R-HSA-399955 SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
R-HSA-373755 Semaphorin interactions
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: FARP2_HUMAN, KIAA0793, NM_014808, NP_055623, O94887, PLEKHC3, Q53QM5, Q8WU27, Q9UFE7
UCSC ID: uc002wbi.2
RefSeq Accession: NM_014808
Protein: O94887 (aka FARP2_HUMAN)
CCDS: CCDS33424.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014808.2
exon count: 27CDS single in 3' UTR: no RNA size: 4061
ORF size: 3165CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6520.00frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.