FARP2

FARP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4GYV, 4GZU
Identifiers
Aliases	FARP2 , FIR, FRG, PLEKHC3, FERM, ARH/RhoGEF and pleckstrin domain protein 2
External IDs	OMIM: 617586 MGI: 2385126 HomoloGene: 8877 GeneCards: FARP2
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q37.3 Start 241,356,285 bp [1] End 241,494,841 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 D Start 93,439,801 bp [2] End 93,549,698 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve skin of abdomen rectum Achilles tendon corpus callosum secondary oocyte islet of Langerhans thymus duodenum stomach Top expressed in fossa calvaria retinal pigment epithelium left lobe of liver secondary oocyte body of femur molar condyle substantia nigra proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytoskeletal protein binding guanyl-nucleotide exchange factor activity Cellular component cytosol cytoskeleton cytoplasm Biological process osteoclast differentiation neuron remodeling actin cytoskeleton reorganization regulation of integrin activation podosome assembly cell adhesion Rac protein signal transduction regulation of Rho protein signal transduction semaphorin-plexin signaling pathway hair cycle process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9855 227377 Ensembl ENSG00000006607 ENSMUSG00000034066 UniProt O94887 Q91VS8 RefSeq (mRNA) NM_001282983 NM_001282984 NM_014808 NM_145519 RefSeq (protein) NP_001269912 NP_001269913 NP_055623 NP_663494 Location (UCSC) Chr 2: 241.36 – 241.49 Mb Chr 1: 93.44 – 93.55 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

FERM, RhoGEF and pleckstrin domain-containing protein 2 is a protein that in humans is encoded by the FARP2 gene. ^{[5] [6] [7]}

Model organisms

Farp2 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Abnormal
Brain histopathology	Abnormal
Salmonella infection	Normal [8]
Citrobacter infection	Normal [9]
All tests and analysis from [10] [11]

Model organisms have been used in the study of FARP2 function. A conditional knockout mouse line, called Farp2^{tm1a(KOMP)Wtsi [12] [13]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. ^{[14] [15] [16]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[10] [17]} Twenty four tests were carried out on mutant mice and two significant abnormalities were observed. ^[10] Homozygous mutant animals had a thickened cerebral cortex and displayed abnormal hair shedding. ^[10]

Interactions

FARP2 has been shown to interact with PDZK1. ^[18]

References

1. GRCh38: Ensembl release 89: ENSG00000006607 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034066 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Oct 1998). "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". DNA Research. 5 (5): 277–86. doi: 10.1093/dnares/5.5.277 . PMID   9872452.
6. Kubo T, Yamashita T, Yamaguchi A, Sumimoto H, Hosokawa K, Tohyama M (Oct 2002). "A novel FERM domain including guanine nucleotide exchange factor is involved in Rac signaling and regulates neurite remodeling". The Journal of Neuroscience. 22 (19): 8504–13. doi:10.1523/JNEUROSCI.22-19-08504.2002. PMC   6757789 . PMID   12351724.
7. "Entrez Gene: FARP2 FERM, RhoGEF and pleckstrin domain protein 2".
8. "Salmonella infection data for Farp2". Wellcome Trust Sanger Institute.
9. "Citrobacter infection data for Farp2". Wellcome Trust Sanger Institute.
10. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
11. Mouse Resources Portal, Wellcome Trust Sanger Institute.
12. "International Knockout Mouse Consortium".
13. "Mouse Genome Informatics".
14. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
15. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
16. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
17. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.
18. Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (Nov 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi: 10.1046/j.1523-1755.2003.00266.x . PMID   14531806.

Further reading

• Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (Aug 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. doi: 10.1016/j.cub.2004.07.051 . PMID   15324660. S2CID   2371325.
• Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (Nov 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International. 64 (5): 1733–45. doi: 10.1046/j.1523-1755.2003.00266.x . PMID   14531806.
• Miyamoto Y, Yamauchi J, Itoh H (Aug 2003). "Src kinase regulates the activation of a novel FGD-1-related Cdc42 guanine nucleotide exchange factor in the signaling pathway from the endothelin A receptor to JNK". The Journal of Biological Chemistry. 278 (32): 29890–900. doi: 10.1074/jbc.M301559200 . PMID   12771149.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.

External links

• Overview of all the structural information available in the PDB for UniProt : Q91VS8 (FERM, ARHGEF and pleckstrin domain-containing protein 2) at the PDBe-KB .