FMN2 - formin 2 Gene

Homo sapiens

Gene ID: 56776 | Gene type: protein coding

About FMN2

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:240,091,883-240,475,187 (from NCBI)

This gene has 18 transcripts (splice variants), 139 orthologues, 18 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues.

Summary

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin Cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]

FMN2 Products(3)

mRNA	Protein	Name
NM_001305424.2	NP_001292353.1	formin-2 isoform 1
NM_001348094.2	NP_001335023.1	formin-2 isoform 3
NM_020066.5	NP_064450.3	formin-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin binding	IDA IDA: Inferred from direct assay	20082305	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	26287480	GOA
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	23375502	GOA
involved in actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	24223803	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	24223803	GOA
involved in cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	23375502	GOA
involved in formin-nucleated actin cable assembly	IDA IDA: Inferred from direct assay	26287480	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	23375502	GOA
involved in negative regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	23375502	GOA
involved in positive regulation of double-strand break repair	IDA IDA: Inferred from direct assay	26287480	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with actin cytoskeleton	IDA IDA: Inferred from direct assay	20082305	GOA
located in cytosol	IDA IDA: Inferred from direct assay	20082305	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	23375502	GOA
located in nucleus	IDA IDA: Inferred from direct assay	26287480	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

FMN2 Protein Structure

Drf_FH1

FH2

0
300
600
900
1200
1500
1722 a.a.

Protein Preferred Names

Protein Names

formin-2

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 47

MRT47	Mental Retardation, Autosomal Recessive 47
Autosomal Recessive Intellectual Developmental Disorder 47	Mental Retardation, Autosomal Recessive, Type 47

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Cryptophthalmos, Unilateral Or Bilateral, Isolated

Isolated Cryptophthalmia	CRYPTOP
Ankyloblepharon, Simple	Cryptophthalmos With Microphthalmia And Peters Anomaly
Unilateral Or Bilateral Isolated Cryptophthalmos

Infertility

Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Dementia, Familial Danish	Fdd
Familial Danish Dementia	Heredopathia Ophthalmootoencephalica
Hooe	Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis
Adan Amyloidosis	Itm2b-Related Cerebral Amyloid Angiopathy 2
Itm2b Amyloidosis	Familial Cerebral Amyloid Angiopathy
Itm2b-Related Amyloidosis	Itm2b-Related Cerebral Amyloid Angiopathy
Familial Dementia, Danish Type	Cerebral Amyloid Angiopathy, Itm2b-Related 2
CAA-ITM2B2	Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis
Dementia, Familial, Danish

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05001	FMN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-161011	Spire2-FMN2 interaction-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FMN2	MGD	MGI:1859252
Felis catus	FMN2	VGNC	VGNC:107876
Canis familiaris	FMN2	VGNC	VGNC:40913
Rattus norvegicus	FMN2	RGD	RGD:2322099
Macaca mulatta	FMN2	VGNC	VGNC:106367

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