FARP2 - FERM, ARH/RhoGEF and pleckstrin domain protein 2 Gene

Also Known as FIR; FRG; PLEKHC3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9855

About FARP2

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,356,285-241,494,841 (from NCBI)

This gene has 23 transcripts (splice variants), 215 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues.

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]

FARP2 Products (3)

mRNA Protein Name
NM_001282983.2 NP_001269912.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform b
NM_001282984.2 NP_001269913.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform c
NM_014808.4 NP_055623.1 FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform a
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
12351724 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within Rac protein signal transduction IDA
IDA: Inferred from direct assay
12351724 GOA
acts upstream of or within neuron remodeling IDA
IDA: Inferred from direct assay
12351724 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12351724 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FARP2 Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (48 - 125)

FERM_M

FERM_M: FERM central domain (127 - 234)

FERM_C

FERM_C: FERM C-terminal PH-like domain (238 - 327)

FA

FA: FERM adjacent (FA) (333 - 377)

RhoGEF

RhoGEF: RhoGEF domain (539 - 722)

PH

PH: PH domain (757 - 851)

PH

PH: PH domain (932 - 1025)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1054 a.a.
Protein Preferred Names Protein Names

FERM, ARHGEF and pleckstrin domain-containing protein 2

  • FERM domain including RhoGEF

Related Diseases

Diseases Alias
Chromosome 2q37 Deletion Syndrome
  • Albright Hereditary Osteodystrophy-Like Syndrome

  • 2q37 Microdeletion Syndrome

  • Brachydactyly-Intellectual Disability Syndrome

  • Deletion 2q37

  • 2q37 Deletion Syndrome

  • Brachydactyly-Mental Retardation Syndrome

  • Bdmr

  • Albright Hereditary Osteodystrophy Type 3

  • Del(2)(Q37)

  • Monosomy 2q37qter

  • Albright'S Hereditary Osteodystrophy-Like Syndrome

  • Monosomy 2q37

  • Chromosome Deletion Syndrome 2q37

Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Parkinson Disease 6, Autosomal Recessive Early-Onset
  • Autosomal Recessive Early-Onset Parkinson Disease 6

  • Parkinson Disease 6

  • PARK6

  • Parkinson Disease 6, Early Onset

  • Parkinson'S Disease 6

  • Parkinson Disease 6, Early-Onset

  • Autosomal Recessive Early-Onset Parkinson'S Disease 6

  • Early-Onset Parkinson Disease 6

  • Autosomal Recessive Early-Onset Parkinson Disease Type 6

  • Parkinson Disease 6 Early-Onset

  • Parkinson Disease 6 Late-Onset Susceptibility To

  • Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/Dj1

  • Parkinsonism Young Adult Onset

  • Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

  • Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset

Pathologic Nystagmus
  • Nystagmus

Congenital Nystagmus
  • Nystagmus, Congenital

  • Nystagmus Congenital

Hermansky-Pudlak Syndrome 1
  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • HPS1

  • Delta Storage Pool Disease

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Hermansky-Pudlak Syndrome, Type 1

  • Platelet Storage Pool Deficiency

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FARP2 VGNC VGNC:62150
Canis familiaris FARP2 VGNC VGNC:40731
Macaca mulatta FARP2 VGNC VGNC:72513
Rattus norvegicus FARP2 RGD RGD:1308003
Mus musculus FARP2 MGD MGI:2385126
Bos taurus FARP2 VGNC VGNC:55172
Others FARP2 NCBI