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FMNL2 formin like 2 [ Homo sapiens (human) ]

Gene ID: 114793, updated on 3-Apr-2024

Summary

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Official Symbol
FMNL2provided by HGNC
Official Full Name
formin like 2provided by HGNC
Primary source
HGNC:HGNC:18267
See related
Ensembl:ENSG00000157827 MIM:616285; AllianceGenome:HGNC:18267
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
Also known as
FHOD2
Summary
This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 47.7), placenta (RPKM 25.7) and 20 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q23.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (152335174..152649826)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (152787273..153102389)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (153191688..153506340)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16646 Neighboring gene uncharacterized LOC105373689 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:153032215-153032738 Neighboring gene uncharacterized LOC105373688 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene signal transducing adaptor molecule 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153183153-153183652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258063-153258564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258565-153259064 Neighboring gene Sharpr-MPRA regulatory region 2662 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:153280187-153280913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153280914-153281639 Neighboring gene Sharpr-MPRA regulatory region 469 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153309665-153310256 Neighboring gene nuclear distribution C pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153310257-153310847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153312623-153313213 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:153357706-153358281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16649 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153474731-153475930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153502126-153503325 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153508427-153509132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:153519134-153520333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153557503-153558702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153558975-153559476 Neighboring gene pre-mRNA processing factor 40 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12013 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153574523-153575228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16656 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:153661367-153661578 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153702825-153704024 Neighboring gene ubiquilin 4 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma. Lee SW, et al. Oncology, 2022. PMID 35772391
  2. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease. Trefzer R, et al. PLoS One, 2021. PMID 34043722, Free PMC Article
  3. Inhibition of formin like 2 promotes the transition of ectopic endometrial stromal cells to epithelial cells in adenomyosis through a MET-like process. Li Y, et al. Gene, 2019 Aug 20. PMID 31175924
  4. A specific FMNL2 isoform is up-regulated in invasive cells. Péladeau C, et al. BMC Cell Biol, 2016 Aug 30. PMID 27578625, Free PMC Article
  5. Down-regulation of formin-like 2 predicts poor prognosis in hepatocellular carcinoma. Liang L, et al. Hum Pathol, 2011 Nov. PMID 21496865

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia].
    Title: [Effect of miR-22 Targeting FMNL2 on Cell Migration and Apoptosis in Childhood Acute Myeloid Leukemia].
  2. Spatiotemporal Regulation of FMNL2 by N-Terminal Myristoylation and C-Terminal Phosphorylation Drives Rapid Filopodia Formation.
    Title: Spatiotemporal Regulation of FMNL2 by N-Terminal Myristoylation and C-Terminal Phosphorylation Drives Rapid Filopodia Formation.
  3. LINC00839 promotes malignancy of liver cancer via binding FMNL2 under hypoxia.
    Title: LINC00839 promotes malignancy of liver cancer via binding FMNL2 under hypoxia.
  4. Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma.
    Title: Formin-Like 2 Is a Potential Biomarker of Poor Prognosis in Nasopharyngeal Carcinoma.
  5. FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease.
    Title: FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease.
  6. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.
    Title: Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.
  7. FMNL2 regulates dynamics of fascin in filopodia.
    Title: FMNL2 regulates dynamics of fascin in filopodia.
  8. CircHIPK3 promotes colorectal cancer cells proliferation and metastasis via modulating of miR-1207-5p/FMNL2 signal.
    Title: CircHIPK3 promotes colorectal cancer cells proliferation and metastasis via modulating of miR-1207-5p/FMNL2 signal.
  9. MicroRNA-22 targets FMNL2 to inhibit melanoma progression via the regulation of the Wnt/beta-catenin signaling pathway and epithelial-mesenchymal transition.
    Title: MicroRNA-22 targets FMNL2 to inhibit melanoma progression via the regulation of the Wnt/β-catenin signaling pathway and epithelial-mesenchymal transition.
  10. Results demonstrated that N-myristoylation-dependent phosphorylation in FMNL2 occurs at a single Ser residue at position 171, which is a Ser residue conserved between FMNL2 and FMNL3, corresponding to Ser-174 in FMNL3
    Title: A strategy to identify protein-N-myristoylation-dependent phosphorylation reactions of cellular proteins by using Phos-tag SDS-PAGE.
Submit: New GeneRIF Correction See all GeneRIFs (32)

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

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37546

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cadherin binding HDA PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cortical actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
formin-like protein 2
Names
formin homology 2 domain containing 2
formin homology 2 domain-containing protein 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.

mRNA and Protein(s)

  1. NM_052905.4 → NP_443137.2  formin-like protein 2

    See identical proteins and their annotated locations for NP_443137.2

    Status: REVIEWED

    Source sequence(s)
    AB067489, AC012066, AC012443, AC093794
    Consensus CDS
    CCDS46429.1
    UniProtKB/Swiss-Prot
    B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
    Related
    ENSP00000288670.9, ENST00000288670.14
    Conserved Domains (3) summary
    pfam02181
    Location:616 → 967
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding 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
    152335174..152649826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510531.2 → XP_011508833.1  formin-like protein 2 isoform X2

    UniProtKB/TrEMBL
    C9IZY8
    Conserved Domains (3) summary
    pfam02181
    Location:623 → 974
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  2. XM_011510533.4 → XP_011508835.1  formin-like protein 2 isoform X3

    UniProtKB/TrEMBL
    C9IZY8
    Conserved Domains (3) summary
    pfam02181
    Location:623 → 974
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  3. XM_011510530.2 → XP_011508832.1  formin-like protein 2 isoform X1

    UniProtKB/TrEMBL
    C9IZY8
    Related
    ENSP00000418959.3, ENST00000475377.3
    Conserved Domains (3) summary
    pfam02181
    Location:623 → 974
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  4. XM_011510534.2 → XP_011508836.1  formin-like protein 2 isoform X6

    UniProtKB/TrEMBL
    C9IZY8
    Conserved Domains (3) summary
    pfam02181
    Location:623 → 951
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  5. XM_005246263.3 → XP_005246320.1  formin-like protein 2 isoform X4

    See identical proteins and their annotated locations for XP_005246320.1

    UniProtKB/Swiss-Prot
    B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
    Conserved Domains (3) summary
    pfam02181
    Location:616 → 967
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  6. XM_005246265.4 → XP_005246322.1  formin-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_005246322.1

    UniProtKB/Swiss-Prot
    B2RZH5, Q14CC9, Q4ZG52, Q8N3E0, Q96PY5
    Conserved Domains (3) summary
    pfam02181
    Location:616 → 967
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:278 → 475
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 275
    Drf_GBD; Diaphanous GTPase-binding Domain

  7. XM_047443111.1 → XP_047299067.1  formin-like protein 2 isoform X7

  8. XM_047443112.1 → XP_047299068.1  formin-like protein 2 isoform X8

  9. XM_011510535.3 → XP_011508837.1  formin-like protein 2 isoform X9

    UniProtKB/TrEMBL
    C9IZY8
    Conserved Domains (3) summary
    pfam02181
    Location:572 → 923
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:227 → 424
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:23 → 224
    Drf_GBD; Diaphanous GTPase-binding Domain

  10. XM_047443113.1 → XP_047299069.1  formin-like protein 2 isoform X10

  11. XM_047443114.1 → XP_047299070.1  formin-like protein 2 isoform X11

  12. XM_011510536.4 → XP_011508838.1  formin-like protein 2 isoform X12

    Conserved Domains (3) summary
    pfam02181
    Location:384 → 735
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:39 → 236
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:2 → 36
    Drf_GBD; Diaphanous GTPase-binding Domain

RNA

  1. XR_241279.5 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    152787273..153102389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340341.1 → XP_054196316.1  formin-like protein 2 isoform X2

  2. XM_054340342.1 → XP_054196317.1  formin-like protein 2 isoform X3

  3. XM_054340340.1 → XP_054196315.1  formin-like protein 2 isoform X1

  4. XM_054340345.1 → XP_054196320.1  formin-like protein 2 isoform X6

  5. XM_054340343.1 → XP_054196318.1  formin-like protein 2 isoform X4

  6. XM_054340344.1 → XP_054196319.1  formin-like protein 2 isoform X5

  7. XM_054340346.1 → XP_054196321.1  formin-like protein 2 isoform X7

  8. XM_054340347.1 → XP_054196322.1  formin-like protein 2 isoform X8

  9. XM_054340348.1 → XP_054196323.1  formin-like protein 2 isoform X9

  10. XM_054340349.1 → XP_054196324.1  formin-like protein 2 isoform X10

  11. XM_054340350.1 → XP_054196325.1  formin-like protein 2 isoform X11

  12. XM_054340351.1 → XP_054196326.1  formin-like protein 2 isoform X12

RNA

  1. XR_008486257.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001004417.1: Suppressed sequence

    Description
    NM_001004417.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.

  2. NM_001004421.1: Suppressed sequence

    Description
    NM_001004421.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.

  3. NM_001004422.1: Suppressed sequence

    Description
    NM_001004422.1: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96PY5.3 GenPept UniProtKB/Swiss-Prot:Q96PY5

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