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FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 [ Homo sapiens (human) ]

Gene ID: 9855, updated on 17-Jun-2019

Summary

Official Symbol
FARP2provided by HGNC
Official Full Name
FERM, ARH/RhoGEF and pleckstrin domain protein 2provided by HGNC
Primary source
HGNC:HGNC:16460
See related
Ensembl:ENSG00000006607 MIM:617586
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FIR; FRG; PLEKHC3
Expression
Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See FARP2 in Genome Data Viewer
Location:
2q37.3
Exon count:
35
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241356285..241494841)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242295664..242434256)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high density lipoprotein binding protein Neighboring gene basic proline-rich protein-like Neighboring gene septin 2 Neighboring gene uncharacterized LOC105373973 Neighboring gene potassium channel tetramerization domain containing 5 pseudogene Neighboring gene microRNA 3133 Neighboring gene uncharacterized LOC107985788 Neighboring gene serine/threonine kinase 25 Neighboring gene uncharacterized LOC105373974 Neighboring gene BOK antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
NHGRI GWA Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
    Nectin adhesion pathway, organism-specific biosystem
    Nectin adhesion pathway
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of CDC42 activity, organism-specific biosystem
    Regulation of CDC42 activity
  • SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion, organism-specific biosystem (from REACTOME)
    SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion, organism-specific biosystemSema3A, a prototypical semaphorin, acts as a chemorepellent or a chemoattractant for axons by activating a receptor complex comprising neuropilin-1 as the ligand-binding subunit and plexin-A1 as the ...
  • Semaphorin interactions, organism-specific biosystem (from REACTOME)
    Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rac guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Rho guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Rac protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
hair cycle process IEA
Inferred from Electronic Annotation
more info
 
neuron remodeling IDA
Inferred from Direct Assay
more info
PubMed 
osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
podosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of integrin activation ISS
Inferred from Sequence or Structural Similarity
more info
 
semaphorin-plexin signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
FERM, ARHGEF and pleckstrin domain-containing protein 2
Names
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
pleckstrin homology domain-containing family C member 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282983.2NP_001269912.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform b

    See identical proteins and their annotated locations for NP_001269912.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several 3' exons but includes a novel 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    BC021301, DB451463
    Consensus CDS
    CCDS63197.1
    UniProtKB/Swiss-Prot
    O94887
    Related
    ENSP00000362384.4, ENST00000373287.8
    Conserved Domains (5) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537634
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    cl28033
    Location:358533
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  2. NM_001282984.2NP_001269913.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but includes a novel 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.
    Source sequence(s)
    AK300435, BC021301, DB451463
    Consensus CDS
    CCDS63198.1
    UniProtKB/Swiss-Prot
    O94887
    Related
    ENSP00000486597.1, ENST00000627550.2
    Conserved Domains (6) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537636
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    pfam00373
    Location:131234
    FERM_M; FERM central domain
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    pfam09379
    Location:48111
    FERM_N; FERM N-terminal domain
  3. NM_014808.4NP_055623.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform a

    See identical proteins and their annotated locations for NP_055623.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB018336, DB451463, HY312568
    Consensus CDS
    CCDS33424.1
    UniProtKB/Swiss-Prot
    O94887
    Related
    ENSP00000264042.3, ENST00000264042.8
    Conserved Domains (9) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537720
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:749855
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9281025
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam00169
    Location:9331026
    PH; PH domain
    pfam00373
    Location:131234
    FERM_M; FERM central domain
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    pfam09379
    Location:48111
    FERM_N; FERM N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    241356285..241494841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005417.1XP_016860906.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X3

  2. XM_011512233.1XP_011510535.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011510535.1

    Conserved Domains (7) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537720
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:749862
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9351032
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    cl28033
    Location:358533
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  3. XM_005247050.3XP_005247107.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X5

    Conserved Domains (7) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537720
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    pfam00373
    Location:131234
    FERM_M; FERM central domain
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    pfam09379
    Location:48111
    FERM_N; FERM N-terminal domain
    cl17171
    Location:749777
    PH-like; Pleckstrin homology-like domain
  4. XM_017005420.1XP_016860909.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X7

  5. XM_017005419.2XP_016860908.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X6

  6. XM_024453259.1XP_024309027.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    Conserved Domains (7) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537720
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:749862
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9351032
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    cl28033
    Location:358533
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  7. XM_011512235.1XP_011510537.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X2

    Conserved Domains (9) summary
    smart00295
    Location:11185
    B41; Band 4.1 homologues
    cd00160
    Location:488671
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:700813
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:172292
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:886983
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam00169
    Location:891984
    PH; PH domain
    pfam00373
    Location:82185
    FERM_M; FERM central domain
    pfam08736
    Location:284326
    FA; FERM adjacent (FA)
    pfam09379
    Location:1162
    FERM_N; FERM N-terminal domain
  8. XM_011512234.1XP_011510536.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011510536.1

    Conserved Domains (7) summary
    smart00295
    Location:45234
    B41; Band 4.1 homologues
    cd00160
    Location:537720
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:749862
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:221341
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:9351032
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam08736
    Location:333375
    FA; FERM adjacent (FA)
    cl28033
    Location:358533
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  9. XM_011512236.1XP_011510538.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X4

    See identical proteins and their annotated locations for XP_011510538.1

    Conserved Domains (8) summary
    smart00295
    Location:1148
    B41; Band 4.1 homologues
    cd00160
    Location:451634
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd01220
    Location:663776
    PH1_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 1
    cd13193
    Location:135255
    FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
    cd13235
    Location:849946
    PH2_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins Pleckstrin Homology (PH) domain, repeat 2
    pfam00169
    Location:854947
    PH; PH domain
    pfam00373
    Location:45148
    FERM_M; FERM central domain
    pfam08736
    Location:247289
    FA; FERM adjacent (FA)
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