FMN2 formin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FMN2provided by HGNC
Official Full Name: formin 2provided by HGNC
Primary source: HGNC:HGNC:14074
See related: Ensembl:ENSG00000155816 MIM:606373; AllianceGenome:HGNC:14074
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q43

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (240091883..240475187)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (239505207..239886446)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (240255183..240638487)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosomal Circ_FMN2 Derived from the Serum of Colorectal Cancer Patients Promotes Cancer Progression by miR-338-3p/MSI1 Axis.
Title: Exosomal Circ_FMN2 Derived from the Serum of Colorectal Cancer Patients Promotes Cancer Progression by miR-338-3p/MSI1 Axis.
Mechanism of tumor-derived extracellular vesicles in prostatic cancer progression through the circFMN2/KLF2/RNF128 axis.
Title: Mechanism of tumor-derived extracellular vesicles in prostatic cancer progression through the circFMN2/KLF2/RNF128 axis.
Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.
Title: Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.
FMN2 promoter hypermethylation may be an important early event in colorectal cancer, most likely playing a critical role in cancer initiation, and can serve as an ideal diagnostic biomarker in elderly patients with early-stage colon cancer.
Title: Involvement of methylation-associated silencing of formin 2 in colorectal carcinogenesis.
Overexpressing FMN2 reversed the inhibitory effects of miR-144-upregulation on acute lymphoblastic leukemia proliferation and cell-cycle transition
Title: MicroRNA-144 regulates cancer cell proliferation and cell-cycle transition in acute lymphoblastic leukemia through the interaction of FMN2.
Fmn2 mutant mice develop accelerated age-associated memory decline that is further increased in the presence of additional risk factors and is mechanistically linked to a loss of transcriptional homeostasis.
Title: Formin 2 links neuropsychiatric phenotypes at young age to an increased risk for dementia.
This DNA damage-induced nuclear actin assembly requires two biologically and physically linked nucleation factors: Formin-2 and Spire-1/Spire-2.
Title: DNA damage induces nuclear actin filament assembly by Formin -2 and Spire-½ that promotes efficient DNA repair. [corrected].
We therefore characterized co-expressed Spir-2 and Fmn-2 fluorescent protein fusions . The data corroborate a model according to which Spir-2 exists in two different states, a cytosolic monomeric conformation and a membrane-bound state
Title: Membrane targeting of the Spir·formin actin nucleator complex requires a sequential handshake of polar interactions.
FMN2 mutations link intellectual disability either directly or indirectly to the regulation of actin-mediated synaptic spine density.
Title: Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
miR-335 regulates the expression of at least five formin family members, three of which are validated, FMNL3, FMN2 and DAAM2.
Title: Metastasis suppressor microRNA-335 targets the formin family of actin nucleators.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 47 MedGen: C4015444 OMIM: 616193 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143089 (e-PCR)
- UniSTS:171791

AL033858 (e-PCR)
- UniSTS:93734

AL009721 (e-PCR)
- UniSTS:50238

SHGC-148105 (e-PCR)
- UniSTS:176196

D1S2600 (e-PCR)
- UniSTS:31575

G62998 (e-PCR)
- UniSTS:140123

T03659 (e-PCR)
- UniSTS:14455

RH119769 (e-PCR)
- UniSTS:133245

G62053 (e-PCR)
- UniSTS:139161

SHGC-132176 (e-PCR)
- UniSTS:170693

SHGC-145799 (e-PCR)
- UniSTS:174800

RH65279 (e-PCR)
- UniSTS:84197

RH119019 (e-PCR)
- UniSTS:138987

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of meiotic spindle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in formin-nucleated actin cable assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in formin-nucleated actin cable assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in formin-nucleated actin cable assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in homologous chromosome movement towards spindle pole in meiosis I anaphase	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in polar body extrusion after meiotic divisions	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
colocalizes_with actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in microvillus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: formin-2

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_042054.1 RefSeqGene

Range

4999..388303

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001305424.2 → NP_001292353.1 formin-2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB209153, AF225426, AL359918, AL513342, DB476003

UniProtKB/Swiss-Prot

Q9NZ56

UniProtKB/TrEMBL

Q9HBL1

Conserved Domains (3) summary

PHA00666
Location:302 → 416

PHA00666; putative protease

pfam02181
Location:1287 → 1677

FH2; Formin Homology 2 Domain

cl21478
Location:633 → 700

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001348094.2 → NP_001335023.1 formin-2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL359918, AL513342, AL590490, AL646016

Conserved Domains (2) summary

pfam02181
Location:635 → 949

FH2; Formin Homology 2 Domain

cl28033
Location:230 → 500

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_020066.5 → NP_064450.3 formin-2 isoform 2

See identical proteins and their annotated locations for NP_064450.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.

Source sequence(s)

AF218941, AF218942, AF225426, AL359918, DB476003, DN990332

Consensus CDS

CCDS31069.2

UniProtKB/Swiss-Prot

B0QZA7, B4DP05, Q59GF6, Q5VU37, Q9NZ55, Q9NZ56

Related

ENSP00000318884.9, ENST00000319653.14

Conserved Domains (2) summary

PHA00666
Location:302 → 416

PHA00666; putative protease

pfam02181
Location:1283 → 1673

FH2; Formin Homology 2 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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

240091883..240475187

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001837.2 → XP_016857326.1 formin-2 isoform X1
XM_011544237.4 → XP_011542539.1 formin-2 isoform X3

Conserved Domains (2) summary

cl19758
Location:1287 → 1359

FH2; Formin Homology 2 Domain

cl21478
Location:633 → 700

ATP-synt_B; ATP synthase B/B' CF(0)
XM_047425620.1 → XP_047281576.1 formin-2 isoform X4
XM_017001838.2 → XP_016857327.1 formin-2 isoform X2
XM_017001841.3 → XP_016857330.1 formin-2 isoform X5
XM_017001840.3 → XP_016857329.1 formin-2 isoform X5