FARP2 (FERM, ARH/RhoGEF and pleckstrin domain protein 2)

2014-11-01  

Identity

HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
FIR,FRG,PLEKHC3
FUSION GENES

Other Information

Locus ID:

NCBI: 9855
MIM: 617586
HGNC: 16460
Ensembl: ENSG00000006607

Variants:

dbSNP: 9855
ClinVar: 9855
TCGA: ENSG00000006607
COSMIC: FARP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006607ENST00000264042O94887
ENSG00000006607ENST00000373287O94887
ENSG00000006607ENST00000412332H7C210
ENSG00000006607ENST00000413432H7C3M7
ENSG00000006607ENST00000418082C9JVQ5
ENSG00000006607ENST00000422951H7C3E4
ENSG00000006607ENST00000444371H7C447
ENSG00000006607ENST00000445489C9JWM9
ENSG00000006607ENST00000627550O94887

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Adherens junctionKEGGko04520
Adherens junctionKEGGhsa04520
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesionREACTOMER-HSA-399955

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotation, VariantAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
200620642010Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.91
127711492003Src 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.22
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.17
208558672010Inherited genetic susceptibility to monoclonal B-cell lymphocytosis.12
308724542019The Rho family GEF FARP2 is activated by aPKCι to control tight junction formation and polarity.2

Citation

Dessen P

FARP2 (FERM, ARH/RhoGEF and pleckstrin domain protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63298/farp2