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

    Gene ID: 9855, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:16460
    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
    Summary
    Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FARP2 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241356285..241494841)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241855439..241994178)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242295700..242434256)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high density lipoprotein binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242220649-242221149 Neighboring gene HDLBP antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242248819-242249320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255088-242255812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255813-242256537 Neighboring gene septin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12537 Neighboring gene uncharacterized LOC105373973 Neighboring gene Sharpr-MPRA regulatory region 5168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242386413-242387062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242407765-242408327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242422458-242422958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242422959-242423459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242429627-242430140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242430141-242430656 Neighboring gene microRNA 3133 Neighboring gene KCTD5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242445132-242445668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12540 Neighboring gene uncharacterized LOC107985788 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242460159-242460383 Neighboring gene serine/threonine kinase 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12542 Neighboring gene uncharacterized LOC105373974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242486359-242486892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242490880-242491690 Neighboring gene BOK antisense RNA 1 Neighboring gene BCL2 family apoptosis regulator BOK

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0793

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      B7Z6J8, F5GZ84, O94887, Q53QM5, Q8WU27, Q9UFE7
      UniProtKB/TrEMBL
      A0A2X0SSL3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047446511.1XP_047302467.1  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

      UniProtKB/TrEMBL
      A0A2X0SSL3
      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_024453259.2XP_024309027.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SSL3
      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
    4. XM_047446510.1XP_047302466.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B7Z6J8, F5GZ84, O94887, Q53QM5, Q8WU27, Q9UFE7
    5. XM_005247050.4XP_005247107.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X7

      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
    6. XM_011512234.2XP_011510536.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011510536.1

      UniProtKB/TrEMBL
      A0A2X0SSL3
      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_011512236.2XP_011510538.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X6

      See identical proteins and their annotated locations for XP_011510538.1

      UniProtKB/TrEMBL
      A0A2X0SSL3
      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)
    8. XM_047446512.1XP_047302468.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X4

    9. XM_047446513.1XP_047302469.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241855439..241994178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344762.1XP_054200737.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B7Z6J8, F5GZ84, O94887, Q53QM5, Q8WU27, Q9UFE7
    2. XM_054344763.1XP_054200738.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X3

    3. XM_054344759.1XP_054200734.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    4. XM_054344767.1XP_054200742.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X7

    5. XM_054344761.1XP_054200736.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    6. XM_054344760.1XP_054200735.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X1

    7. XM_054344766.1XP_054200741.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X6

    8. XM_054344764.1XP_054200739.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X4

    9. XM_054344765.1XP_054200740.1  FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform X5