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

Gene ID: 9855, updated on 3-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

Location:
2q37.3
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241356285..241494841)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241855439..241994178)
105.20220307 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
  • 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_2023_10

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