FMN2 - formin 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56776

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	References	Source
enables actin binding	IDA IDA: Inferred from direct assay	20082305	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161011	Spire2-FMN2 PPI-IN-1	Inhibitor	/	Unkown
HY-161011A	Spire2-FMN2 PPI-IN-1 dihydrochloride	Inhibitor	98.99%	Unkown
HY-RS05001	FMN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	FMN2	NCBI